Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Spag17'

512019

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 #

FR4548 ()

Quality Score

193.468

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 AGGCGG 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: 99.5%
10x: 98.3%
20x: 94.9%

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: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,668,452		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4932415D10Rik	G	GTCATTA	10: 82,290,996		probably benign	Homo
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
Ahdc1	TCC	TCCCCC	4: 133,062,757		probably benign	Homo
Ahdc1	T	TCCC	4: 133,062,760		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,425,231		probably benign	Het
AI837181	CG	CGGGG	19: 5,425,237		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,480,203		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,281,998		probably benign	Het
Apol6	T	TGTTA	15: 77,051,445		probably null	Homo
BC051142	GCA	GCATCA	17: 34,460,065		probably benign	Het
Blm	CTAC	CTACTTAC	7: 80,463,769		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Bud31	C	T	5: 145,146,535	R63C	probably benign	Het
C4b	C	T	17: 34,740,997	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,717		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,620,058		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,561,026		probably benign	Het
Cckbr	GGGC	G	7: 105,434,681		probably benign	Homo
Cd3eap	GGATG	GG	7: 19,357,244		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,486,319		probably benign	Homo
Ces1b	T	C	8: 93,068,092	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,724,717		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,579		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,189,594		probably benign	Het
Ctsm	GTGA	GTGAATGA	13: 61,537,837		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,463		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,673		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,334,422		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	TTC	TTCATC	2: 58,048,075		probably benign	Het
Ermn	TC	TCTCC	2: 58,048,088		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,098		probably null	Het
Fscb	A	G	12: 64,472,563	S710P	unknown	Het
Fscb	T	A	12: 64,472,565	Q709L	unknown	Het
Glod4	A	C	11: 76,243,310		probably benign	Homo
Gm14401	A	G	2: 177,086,868	D249G	probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,196,070		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,073		probably benign	Het
Gm8104	C	T	14: 43,110,009	T178I	probably benign	Het
Gm8104	T	C	14: 43,110,011	S179P	probably damaging	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 78,842,175		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Ifi211	G	A	1: 173,906,193	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 68,226,186		probably benign	Het
Igkv9-129	G	A	6: 67,840,034	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,386,275		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,221,851		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,586,380		probably benign	Het
Kng2	G	A	16: 23,000,552	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,281,050		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,389,276		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 95,940,625		probably benign	Het
Las1l	GAG	GAGAAG	X: 95,940,823		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,813		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,816		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,543,188		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,736,318		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Mn1	GCA	GCACCA	5: 111,419,698		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,076,109		probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,149,345		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,149,346		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,599,752		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,599,760		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,173,596		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 34,854,070		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,559,115		probably benign	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,240,100		probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,397,271		probably benign	Homo
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr318	T	G	11: 58,720,371	I226L	probably benign	Het
Olfr585	T	TTAG	7: 103,098,309		probably null	Homo
Olfr624	CAAA	CAAAAAA	7: 103,670,960		probably benign	Homo
Olfr624	G	GAAC	7: 103,670,967		probably null	Homo
Osmr	CTC	CTCTTC	15: 6,837,703		probably benign	Homo
Patl2	GCT	GCTCCT	2: 122,126,135		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,279,512		probably benign	Homo
Phldb3	GACCC	G	7: 24,628,978		probably null	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,103,885		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,462,174		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Homo
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,914,456		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,394,201		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,785,313		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,569,749		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,569,755		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,423,064		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,423,065		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GGC	GGCCGC	17: 85,621,363		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 125,154,214		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,664		probably benign	Het
Supt20	CA	CAGCAGAA	3: 54,727,673		probably benign	Het
Syne1	C	A	10: 5,032,969	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,455		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,469		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Het
Triobp	TCG	TCGGCG	15: 78,993,387		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,993,390		probably benign	Homo
Tsen2	GAG	GAGAAG	6: 115,560,068		probably benign	Het
Ttf2	TC	TCCGC	3: 100,963,160		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,335,303		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,306,958		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,633,941		probably benign	Homo
Vars	TGG	TGGAGTCCTGGGGGG	17: 35,015,989		probably benign	Homo
Vars	G	GAGTCCTGGGTGC	17: 35,015,991		probably benign	Het
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,323,599		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,942,168		probably null	Het
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,907,472		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het
Zfp986	G	T	4: 145,899,358	R196I	probably benign	Het
Zfp992	G	T	4: 146,466,007	E62*	probably null	Het

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
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	100056254	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'- TGTGCAGTTCTGTCCAGAG -3'

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

Posted On

2018-04-05