Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Spag17'

511822

Institutional Source

Beutler Lab

Gene Symbol

Spag17

Ensembl Gene

ENSMUSG00000027867

Gene Name

sperm associated antigen 17

Synonyms

4931427F14Rik, PF6

Accession Numbers

Genbank: NM_028892; MGI: 1921612

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4976 ()

Quality Score

190.468

Status

Not validated

Chromosome

Chromosomal Location

99885406-100143322 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

AGG to AGGTGG at 100056254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164539]

AlphaFold

Q5S003

Predicted Effect

probably benign
Transcript: ENSMUST00000164539

SMART Domains

Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867

Domain	Start	End	E-Value	Type
low complexity region	155	170	N/A	INTRINSIC
low complexity region	384	400	N/A	INTRINSIC
low complexity region	876	887	N/A	INTRINSIC
coiled coil region	909	964	N/A	INTRINSIC
coiled coil region	1079	1120	N/A	INTRINSIC
low complexity region	1179	1190	N/A	INTRINSIC
low complexity region	1192	1205	N/A	INTRINSIC
low complexity region	1209	1220	N/A	INTRINSIC
low complexity region	1223	1238	N/A	INTRINSIC
low complexity region	1394	1405	N/A	INTRINSIC
low complexity region	1931	1942	N/A	INTRINSIC
Pfam:PapD-like	2171	2277	1.2e-15	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 96.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygous null mice exhibit immotile respiratory cilia with axoneme structural defects, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelium, enlarged brain ventricles consistent with evolving hydrocephalus, failure to suckle, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 221 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,668,447		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,739		probably benign	Het
4930402H24Rik	TCC	TCCACC	2: 130,770,742		probably benign	Het
4930402H24Rik	C	CTCG	2: 130,770,753		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,229		probably benign	Het
Akap12	AAA	AAACAA	10: 4,353,837		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,244,561		probably null	Homo
Alg9	G	GCGA	9: 50,775,431		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,272,532		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	AAGC	AAGCCAATATAGC	18: 34,282,004		probably null	Het
Apc	CCAATAAAG	CCAATAAAGTCAATAAAG	18: 34,281,998		probably benign	Het
Apc	AATAAAGC	AATAAAGCCTATAAAGC	18: 34,282,000		probably benign	Het
Atad3a	C	A	4: 155,753,939	R207L	probably damaging	Homo
BC051142	AGC	AGCGGC	17: 34,460,058		probably benign	Het
BC051142	AGC	AGCGGC	17: 34,460,061		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,907		probably benign	Het
Blm	ACCT	ACCTCCCT	7: 80,463,767		probably benign	Homo
Bmp5	GAGGAGT	G	9: 75,776,375		probably benign	Homo
Bpifa6	A	T	2: 153,986,376	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,986,398	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,717		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 84,638,726		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,262		probably benign	Het
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,397,795		probably benign	Het
Catsper2	C	CTTTTACTTTTTT	2: 121,397,542		probably benign	Homo
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Homo
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,561,008		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,561,029		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,019,867		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,869		probably benign	Het
Cep112	G	GCTCT	11: 108,425,352		probably benign	Het
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,122,131		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,520		probably benign	Het
Cnpy3	CCT	CCTACT	17: 46,736,747		probably null	Het
Cntnap1	A	ACCCCCC	11: 101,189,569		probably benign	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,585		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,588		probably benign	Het
Col4a3	CGTTTTTTTTTTTTTTTT	C	1: 82,718,906		probably null	Het
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,537,836		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,461		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,467		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,850		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,856		probably benign	Het
Cybrd1	GAAT	G	2: 71,138,511		probably benign	Homo
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,689		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,692		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,583,701		probably benign	Het
Dbr1	GG	GGAGGAAG	9: 99,583,702		probably benign	Het
Dcaf8	C	T	1: 172,172,856	H194Y	probably damaging	Homo
Dnajc19	AC	ACGC	3: 34,057,994		probably null	Het
Dthd1	GAC	GACTAC	5: 62,843,024		probably benign	Homo
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,080		probably benign	Het
Ermn	TC	TCTAC	2: 58,048,088		probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618		probably benign	Homo
Fam45a	T	TTCA	19: 60,814,622		probably benign	Homo
Fbxo38	TGCAGC	TGC	18: 62,515,347		probably benign	Het
Frem3	CT	CTTGT	8: 80,615,241		probably benign	Homo
Fsip2	TTTTT	TTTTTGTTTT	2: 82,984,362		probably benign	Het
Fsip2	TT	TTTTTCT	2: 82,984,365		probably benign	Het
Gabre	AGGCT	AGGCTGCGGCT	X: 72,270,418		probably benign	Homo
Gabre	T	TGAGGCC	X: 72,270,422		probably benign	Homo
Gm10800	A	AC	2: 98,667,033		probably null	Homo
Gm14393	T	G	2: 175,061,820	N98T	probably benign	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,327,323		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gm7534	TG	TGCCG	4: 134,202,630		probably benign	Homo
Golga5	G	A	12: 102,475,660		probably null	Homo
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 78,842,173		probably null	Het
Gpatch11	AGGAA	AGGAAGTGGAA	17: 78,842,180		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,170		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,172		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 117,975,808		probably benign	Homo
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Igf1r	C	CTGGAGATGGAGA	7: 68,226,186		probably benign	Het
Il17rd	CGG	CGGTGG	14: 27,082,677		probably benign	Het
Il2	GG	GGGGCTTGAAGTAG	3: 37,125,829		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,616,676		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,931,715		probably null	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,360		probably benign	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,586,362		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,373		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,315,763		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,598,004		probably benign	Homo
Las1l	AGG	AGGGGG	X: 95,940,827		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Las1l	A	AGGC	X: 95,940,833		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 93,018,148		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,450,572		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,803,910		probably benign	Homo
Lrmp	CACATTG	CACATTGAGGACATTG	6: 145,173,785		probably benign	Homo
Mamld1	GCAACA	GCAACAACA	X: 71,118,812		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,818		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247		probably null	Homo
Mast4	TGG	TGGGGGCGG	13: 102,736,312		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,977		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,702		probably benign	Het
Morf4l2	T	C	X: 136,733,622	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,149,350		probably benign	Het
Nacad	A	ACCAGGG	11: 6,599,749		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,599,756		probably benign	Het
Nacad	C	CAGGGTA	11: 6,599,763		probably benign	Het
Nars	CCACTCAC	CCAC	18: 64,510,445		probably benign	Homo
Ndufc2	C	T	7: 97,400,274	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	CTG	CTGGTG	4: 156,240,098		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,081,356		probably benign	Het
Nolc1	AGC	AGCAGCAGCGGC	19: 46,081,375		probably benign	Het
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr547	A	AAACCG	7: 102,535,681		probably null	Homo
Olfr585	T	TTAC	7: 103,098,309		probably benign	Homo
Olfr624	AG	AGAGG	7: 103,670,966		probably benign	Homo
Patl2	CTG	CTGGTG	2: 122,126,139		probably benign	Het
Patl2	GCT	GCTTCT	2: 122,126,141		probably benign	Het
Patl2	GC	GCTTC	2: 122,126,144		probably benign	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Homo
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,805,023		probably benign	Het
Pick1	TTC	TTCTC	15: 79,255,946		probably null	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,635,654		probably null	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pogz	GTAAT	G	3: 94,874,695		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,540,738		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,462,171		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,462,176		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,318,519		probably benign	Het
Rpgrip1	GGA	GGATGA	14: 52,149,394		probably benign	Het
Rpgrip1	GGAAGAAGA	GGA	14: 52,149,544		probably benign	Het
Rps19	AGCGG	AG	7: 24,888,996		probably benign	Homo
Rsf1	G	GACC	7: 97,579,909		probably benign	Homo
Serpina3m	A	G	12: 104,358,623		probably null	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,785,316		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,423,055		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,423,060		probably benign	Homo
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,358		probably benign	Het
Six3	CG	CGGGG	17: 85,621,371		probably benign	Het
Skint8	C	T	4: 111,938,902	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,401,562		probably benign	Homo
Smpx	CCCCCA	C	X: 157,720,924		probably benign	Homo
Snx1	TC	TCTGC	9: 66,104,929		probably benign	Homo
Snx1	C	CTTT	9: 66,104,930		probably benign	Homo
Sp110	CT	CTAAT	1: 85,587,489		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841		probably benign	Homo
Stard8	AGG	AGGTGG	X: 99,066,513		probably benign	Het
Stard8	AGG	AGGTGG	X: 99,066,525		probably benign	Het
Stk10	CCCA	C	11: 32,614,520		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,205,699		probably benign	Homo
Tbc1d5	G	C	17: 50,799,931	H532Q	probably benign	Homo
Tbc1d5	C	G	17: 50,799,943	Q528H	probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tmcc1	G	A	6: 116,193,380		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Het
Trav15-2-dv6-2	G	GAAC	14: 53,649,757		probably benign	Homo
Trav15-2-dv6-2	GAA	GAATAA	14: 53,649,754		probably null	Het
Trim16	GTGA	GTGATGA	11: 62,820,689		probably benign	Homo
Tsen2	AGG	AGGCGG	6: 115,560,066		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,306,959		probably benign	Het
Vmn1r124	G	T	7: 21,259,936	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,748,121	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,823,404		probably benign	Homo
Zfp111	T	G	7: 24,199,037	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 24,199,807		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,904,790		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,907,478		probably benign	Het
Zfp459	TGA	TGAGAGA	13: 67,408,274		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp459	A	AGTGG	13: 67,408,276		probably null	Homo
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760		probably benign	Het
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,679,372		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,782		probably benign	Het
Zfp683	AG	AGGGG	4: 134,058,879		probably benign	Homo

Other mutations in Spag17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Spag17	APN	3	100063375	missense	probably benign	0.00
IGL01143:Spag17	APN	3	99939298	missense	probably benign	0.00
IGL01329:Spag17	APN	3	100095549	missense	probably benign	0.16
IGL01393:Spag17	APN	3	100027610	missense	possibly damaging	0.53
IGL01617:Spag17	APN	3	100109508	missense	possibly damaging	0.65
IGL01705:Spag17	APN	3	100022730	missense	probably benign	0.01
IGL01928:Spag17	APN	3	99940074	splice site	probably benign
IGL01981:Spag17	APN	3	100058833	missense	probably benign	0.03
IGL02435:Spag17	APN	3	99982444	missense	possibly damaging	0.53
IGL02452:Spag17	APN	3	100027391	missense	probably benign	0.00
IGL02465:Spag17	APN	3	100075871	missense	probably damaging	0.96
IGL02615:Spag17	APN	3	100072085	missense	probably benign	0.09
IGL02751:Spag17	APN	3	100010794	nonsense	probably null
IGL02803:Spag17	APN	3	100109397	missense	probably benign
IGL02898:Spag17	APN	3	100101386	missense	probably benign	0.00
IGL03037:Spag17	APN	3	100072170	splice site	probably null
IGL03068:Spag17	APN	3	100080205	missense	probably benign	0.35
IGL03131:Spag17	APN	3	100010759	missense	possibly damaging	0.85
IGL03224:Spag17	APN	3	100010840	missense	possibly damaging	0.53
FR4342:Spag17	UTSW	3	100056249	small insertion	probably benign
FR4342:Spag17	UTSW	3	100056252	small insertion	probably benign
FR4548:Spag17	UTSW	3	100056254	small insertion	probably benign
FR4589:Spag17	UTSW	3	100056245	small insertion	probably benign
FR4589:Spag17	UTSW	3	100056258	small insertion	probably benign
FR4737:Spag17	UTSW	3	100056257	small insertion	probably benign
FR4976:Spag17	UTSW	3	100056255	small insertion	probably benign
N/A:Spag17	UTSW	3	99982254	splice site	probably benign
PIT4504001:Spag17	UTSW	3	100103110	critical splice acceptor site	probably null
PIT4514001:Spag17	UTSW	3	100013211	missense	possibly damaging	0.53
R0107:Spag17	UTSW	3	100050787	missense	possibly damaging	0.72
R0230:Spag17	UTSW	3	100106827	missense	probably benign	0.08
R0243:Spag17	UTSW	3	100085368	missense	probably benign	0.04
R0321:Spag17	UTSW	3	100101403	missense	probably damaging	0.99
R0375:Spag17	UTSW	3	100027590	missense	probably benign
R0417:Spag17	UTSW	3	100065554	missense	probably benign	0.11
R0490:Spag17	UTSW	3	99982411	missense	probably damaging	0.97
R0537:Spag17	UTSW	3	100125302	missense	probably damaging	0.98
R0714:Spag17	UTSW	3	100080156	missense	probably damaging	0.97
R0844:Spag17	UTSW	3	100004785	missense	probably benign
R0919:Spag17	UTSW	3	100071943	splice site	probably benign
R0926:Spag17	UTSW	3	100072116	missense	probably benign
R1037:Spag17	UTSW	3	100103117	missense	probably benign	0.01
R1075:Spag17	UTSW	3	100093676	missense	probably damaging	0.99
R1109:Spag17	UTSW	3	100027351	missense	possibly damaging	0.86
R1213:Spag17	UTSW	3	100095638	missense	probably benign	0.01
R1221:Spag17	UTSW	3	99982268	missense	possibly damaging	0.72
R1576:Spag17	UTSW	3	99939363	missense	possibly damaging	0.73
R1586:Spag17	UTSW	3	100021752	missense	possibly damaging	0.53
R1768:Spag17	UTSW	3	100027352	missense	possibly damaging	0.53
R1782:Spag17	UTSW	3	100010754	missense	probably benign	0.02
R1789:Spag17	UTSW	3	99939356	missense	possibly damaging	0.73
R1945:Spag17	UTSW	3	99939982	missense	probably benign
R2065:Spag17	UTSW	3	100013208	missense	probably benign	0.03
R2118:Spag17	UTSW	3	100049240	missense	possibly damaging	0.72
R2265:Spag17	UTSW	3	100061866	splice site	probably null
R2266:Spag17	UTSW	3	100061866	splice site	probably null
R2267:Spag17	UTSW	3	100061866	splice site	probably null
R2268:Spag17	UTSW	3	100061866	splice site	probably null
R2271:Spag17	UTSW	3	100106797	missense	probably damaging	1.00
R2389:Spag17	UTSW	3	100106837	missense	probably benign	0.27
R2420:Spag17	UTSW	3	100027619	missense	probably benign
R2422:Spag17	UTSW	3	100027619	missense	probably benign
R2423:Spag17	UTSW	3	100103456	missense	probably benign
R3407:Spag17	UTSW	3	100085299	missense	probably benign	0.09
R3801:Spag17	UTSW	3	100053853	missense	possibly damaging	0.53
R3856:Spag17	UTSW	3	100106759	missense	probably damaging	1.00
R4021:Spag17	UTSW	3	100049230	missense	probably benign	0.00
R4022:Spag17	UTSW	3	100049230	missense	probably benign	0.00
R4408:Spag17	UTSW	3	100103378	missense	probably benign
R4468:Spag17	UTSW	3	100085366	missense	probably damaging	0.98
R4540:Spag17	UTSW	3	100088381	missense	probably damaging	1.00
R4621:Spag17	UTSW	3	100103243	missense	probably benign	0.08
R4622:Spag17	UTSW	3	100103243	missense	probably benign	0.08
R4756:Spag17	UTSW	3	100103385	missense	possibly damaging	0.68
R4797:Spag17	UTSW	3	99984479	missense	possibly damaging	0.70
R4855:Spag17	UTSW	3	100063333	missense	probably benign	0.02
R4887:Spag17	UTSW	3	100050831	missense	probably damaging	1.00
R4962:Spag17	UTSW	3	100027623	missense	probably benign
R5030:Spag17	UTSW	3	100085341	nonsense	probably null
R5042:Spag17	UTSW	3	100072149	missense	probably damaging	1.00
R5074:Spag17	UTSW	3	100080118	missense	possibly damaging	0.94
R5195:Spag17	UTSW	3	100101388	missense	probably benign	0.16
R5200:Spag17	UTSW	3	100063471	nonsense	probably null
R5267:Spag17	UTSW	3	100061948	missense	probably damaging	0.98
R5360:Spag17	UTSW	3	100109410	missense	probably benign	0.00
R5444:Spag17	UTSW	3	100056152	missense	probably benign	0.06
R5498:Spag17	UTSW	3	100103345	missense	possibly damaging	0.83
R5503:Spag17	UTSW	3	100027244	missense	possibly damaging	0.72
R5540:Spag17	UTSW	3	100056272	missense	possibly damaging	0.91
R5547:Spag17	UTSW	3	100056152	missense	probably benign	0.06
R5575:Spag17	UTSW	3	100053822	missense	possibly damaging	0.85
R5629:Spag17	UTSW	3	100080119	missense	probably benign	0.33
R5639:Spag17	UTSW	3	100056166	missense	probably damaging	1.00
R5842:Spag17	UTSW	3	99939250	missense	possibly damaging	0.85
R5976:Spag17	UTSW	3	100095791	nonsense	probably null
R6082:Spag17	UTSW	3	100124185	missense	possibly damaging	0.46
R6228:Spag17	UTSW	3	100022602	missense	probably benign	0.33
R6254:Spag17	UTSW	3	100065585	missense	probably benign	0.03
R6321:Spag17	UTSW	3	100088427	missense	probably benign	0.05
R6446:Spag17	UTSW	3	100103132	missense	probably benign
R6687:Spag17	UTSW	3	100092950	missense	probably benign	0.07
R6853:Spag17	UTSW	3	100013235	missense	possibly damaging	0.86
R6946:Spag17	UTSW	3	100004683	missense	possibly damaging	0.53
R6953:Spag17	UTSW	3	100034975	missense	possibly damaging	0.53
R7038:Spag17	UTSW	3	99984609	missense	probably benign	0.00
R7084:Spag17	UTSW	3	99939270	missense	probably benign	0.18
R7126:Spag17	UTSW	3	100101435	missense	probably benign	0.00
R7144:Spag17	UTSW	3	100027401	splice site	probably null
R7198:Spag17	UTSW	3	100095572	missense	probably benign	0.02
R7318:Spag17	UTSW	3	99939983	missense	probably benign	0.00
R7403:Spag17	UTSW	3	99939375	missense	possibly damaging	0.53
R7409:Spag17	UTSW	3	100027231	missense	possibly damaging	0.73
R7409:Spag17	UTSW	3	100034159	missense	probably benign	0.00
R7537:Spag17	UTSW	3	99939247	missense	possibly damaging	0.96
R7609:Spag17	UTSW	3	100095595	nonsense	probably null
R7772:Spag17	UTSW	3	100080118	missense	probably damaging	0.98
R7842:Spag17	UTSW	3	100053858	missense	probably benign	0.18
R7963:Spag17	UTSW	3	100022638	missense	probably benign	0.02
R8168:Spag17	UTSW	3	100034984	missense	possibly damaging	0.96
R8291:Spag17	UTSW	3	100060850	missense	probably benign
R8347:Spag17	UTSW	3	100027641	missense	probably benign
R8383:Spag17	UTSW	3	100085392	missense	probably damaging	0.98
R8474:Spag17	UTSW	3	100027270	missense	probably benign	0.00
R8528:Spag17	UTSW	3	100124185	missense	possibly damaging	0.46
R8804:Spag17	UTSW	3	99967190	missense	probably benign
R8809:Spag17	UTSW	3	99982422	missense	probably benign	0.33
R8818:Spag17	UTSW	3	100013227	missense	probably benign	0.02
R8830:Spag17	UTSW	3	100125435	missense	possibly damaging	0.77
R8890:Spag17	UTSW	3	100004678	missense	possibly damaging	0.73
R9008:Spag17	UTSW	3	100027626	missense	possibly damaging	0.73
R9095:Spag17	UTSW	3	100004776	missense	possibly damaging	0.86
R9143:Spag17	UTSW	3	100027590	missense	probably benign
R9182:Spag17	UTSW	3	100058842	missense	possibly damaging	0.92
R9211:Spag17	UTSW	3	100125298	critical splice acceptor site	probably benign
R9344:Spag17	UTSW	3	100103477	missense	probably benign	0.01
R9354:Spag17	UTSW	3	100027589	missense	probably benign
R9527:Spag17	UTSW	3	100063461	missense	probably damaging	1.00
R9658:Spag17	UTSW	3	100027616	missense	possibly damaging	0.93
R9738:Spag17	UTSW	3	100027210	missense	possibly damaging	0.53
X0025:Spag17	UTSW	3	100101451	missense	probably benign	0.31
Z1088:Spag17	UTSW	3	100095630	missense	probably benign	0.09
Z1176:Spag17	UTSW	3	100012993	missense	probably benign	0.18
Z1177:Spag17	UTSW	3	100088399	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGTTGGTACGGCAGCTG -3'
(R):5'- GTGTGCAGTTCTGTCCAGAG -3'

Sequencing Primer
(F):5'- CCACTAGCATTTTGTCAAGGTG -3'
(R):5'- CCAGAGCTGGGCTGACC -3'

Posted On

2018-04-05