Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Spatc1l'

210178

Institutional Source

Beutler Lab

Gene Symbol

Spatc1l

Ensembl Gene

ENSMUSG00000009115

Gene Name

spermatogenesis and centriole associated 1 like

Synonyms

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76562272-76570201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76563917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000101054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009259] [ENSMUST00000105414]

AlphaFold

Q9D9W0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009259
AA Change: D91G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: D91G

Domain	Start	End	E-Value	Type
Pfam:Speriolin_N	1	155	1.9e-49	PFAM
Pfam:Speriolin_C	197	342	3e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105414
AA Change: D91G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101054
Gene: ENSMUSG00000009115
AA Change: D91G

Domain	Start	End	E-Value	Type
Pfam:Speriolin_N	1	155	3.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136382

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	A	7: 34,258,036 (GRCm38)	I59L	probably benign	Het
9530053A07Rik	T	C	7: 28,144,348 (GRCm38)	V887A	possibly damaging	Het
Aarsd1	A	C	11: 101,410,231 (GRCm38)		probably null	Het
Abcc5	A	G	16: 20,376,509 (GRCm38)		probably null	Het
Abcc6	T	C	7: 46,020,134 (GRCm38)		probably null	Het
Adam15	C	A	3: 89,345,330 (GRCm38)	M317I	probably benign	Het
Ago3	T	C	4: 126,346,737 (GRCm38)	T111A	probably damaging	Het
Amz1	G	T	5: 140,752,461 (GRCm38)	S492I	probably benign	Het
Arid1a	T	C	4: 133,693,761 (GRCm38)	N911S	unknown	Het
Arntl2	A	T	6: 146,810,810 (GRCm38)	E111V	probably benign	Het
Ascl2	C	A	7: 142,968,163 (GRCm38)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,984,528 (GRCm38)	V1238A	probably benign	Het
Asxl2	G	T	12: 3,474,577 (GRCm38)	V202F	probably damaging	Het
Atp10a	A	T	7: 58,828,712 (GRCm38)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,452,208 (GRCm38)	I374L	probably benign	Het
Bmx	T	C	X: 164,239,415 (GRCm38)	H157R	probably benign	Het
Camk4	T	A	18: 33,158,816 (GRCm38)		probably null	Het
Ccdc103	G	A	11: 102,882,566 (GRCm38)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,793,361 (GRCm38)	N70K	probably damaging	Het
Cebpz	A	T	17: 78,934,907 (GRCm38)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm38)	S122R	probably benign	Het
Cnst	T	C	1: 179,622,791 (GRCm38)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,312,133 (GRCm38)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,703,378 (GRCm38)		probably null	Het
Crim1	C	T	17: 78,313,127 (GRCm38)	T332I	probably benign	Het
Csmd1	A	T	8: 15,906,116 (GRCm38)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,058 (GRCm38)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,718,815 (GRCm38)	A587G	probably damaging	Het
Dach1	C	T	14: 97,901,393 (GRCm38)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,409,982 (GRCm38)	I752V	probably damaging	Het
Dhx33	A	G	11: 70,989,107 (GRCm38)	V359A	probably benign	Het
Dip2c	A	T	13: 9,533,350 (GRCm38)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,662,629 (GRCm38)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,177,272 (GRCm38)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,432,937 (GRCm38)	S462P	probably damaging	Het
Elmod2	G	C	8: 83,316,369 (GRCm38)	R277G	probably benign	Het
Epg5	T	A	18: 77,959,032 (GRCm38)	D555E	probably benign	Het
Ercc8	A	T	13: 108,175,566 (GRCm38)	K172*	probably null	Het
Fat3	T	C	9: 15,998,115 (GRCm38)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,145,992 (GRCm38)	V972A	possibly damaging	Het
Fes	T	C	7: 80,386,861 (GRCm38)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,757,481 (GRCm38)	H34N	probably benign	Het
Galnt17	T	A	5: 131,111,838 (GRCm38)	Y147F	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm38)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,786,002 (GRCm38)		probably null	Het
Gm15448	A	T	7: 3,822,919 (GRCm38)	I317N	probably benign	Het
Gm2381	A	T	7: 42,819,928 (GRCm38)	H257Q	probably damaging	Het
Gm6904	A	T	14: 59,258,613 (GRCm38)	S17R	probably benign	Het
Gm9844	T	C	7: 24,862,306 (GRCm38)	I10T	possibly damaging	Het
Hivep1	A	T	13: 42,155,646 (GRCm38)	K454M	probably benign	Het
Hmmr	T	A	11: 40,708,098 (GRCm38)	E566D	probably damaging	Het
Hydin	T	G	8: 110,587,772 (GRCm38)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,474,914 (GRCm38)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,743,828 (GRCm38)	D667G	probably benign	Het
Lama3	T	C	18: 12,581,798 (GRCm38)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,498,408 (GRCm38)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm38)		probably benign	Het
Mga	T	A	2: 119,926,594 (GRCm38)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,689,800 (GRCm38)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,703,313 (GRCm38)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,274,227 (GRCm38)	I594N	probably damaging	Het
Olfr1294	T	A	2: 111,538,014 (GRCm38)	I92F	probably damaging	Het
Olfr60	T	C	7: 140,345,465 (GRCm38)	I175V	probably benign	Het
Olfr618	A	G	7: 103,597,343 (GRCm38)	N9S	probably benign	Het
Olfr635	G	A	7: 103,979,790 (GRCm38)	W199*	probably null	Het
Olfr698	T	C	7: 106,752,995 (GRCm38)	N131S	probably benign	Het
Paxbp1	T	C	16: 91,044,305 (GRCm38)		probably benign	Het
Pcdhb8	A	G	18: 37,355,962 (GRCm38)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,433,461 (GRCm38)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,250,239 (GRCm38)	V217A	probably benign	Het
Pirb	A	T	7: 3,714,588 (GRCm38)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm38)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,997,288 (GRCm38)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191 (GRCm38)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prkca	A	T	11: 107,939,612 (GRCm38)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,723,337 (GRCm38)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,444,675 (GRCm38)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,925,434 (GRCm38)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,668,423 (GRCm38)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,985,491 (GRCm38)	F409L	probably benign	Het
Ryr2	A	T	13: 11,700,349 (GRCm38)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,331,352 (GRCm38)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,640,905 (GRCm38)	M786K	probably benign	Het
Sema4g	C	A	19: 44,997,622 (GRCm38)	R301S	probably damaging	Het
Senp6	A	T	9: 80,113,774 (GRCm38)	E245D	possibly damaging	Het
Setx	T	C	2: 29,163,009 (GRCm38)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,400,142 (GRCm38)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,209,400 (GRCm38)	N74D	probably damaging	Het
Slc28a1	T	A	7: 81,142,035 (GRCm38)	F316L	probably damaging	Het
Slfn8	G	A	11: 83,003,621 (GRCm38)	Q731*	probably null	Het
Slitrk4	A	G	X: 64,272,623 (GRCm38)	I146T	probably damaging	Het
Smg1	A	G	7: 118,154,199 (GRCm38)		probably benign	Het
Smg8	G	T	11: 87,080,613 (GRCm38)	Y777*	probably null	Het
Smyd1	T	A	6: 71,239,579 (GRCm38)	K61N	probably benign	Het
Sod2	T	C	17: 13,015,169 (GRCm38)	*223R	probably null	Het
Sp6	G	T	11: 97,021,508 (GRCm38)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,702,695 (GRCm38)	Y540D	probably damaging	Het
Spg7	A	G	8: 123,080,741 (GRCm38)	T419A	probably benign	Het
St5	G	A	7: 109,525,326 (GRCm38)	Q686*	probably null	Het
St8sia4	A	G	1: 95,627,573 (GRCm38)	I244T	probably damaging	Het
Tbl2	C	T	5: 135,152,991 (GRCm38)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,274,694 (GRCm38)	P47L	probably damaging	Het
Tmtc1	T	C	6: 148,444,048 (GRCm38)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,284,054 (GRCm38)		probably null	Het
Unc13d	A	G	11: 116,070,295 (GRCm38)	F412S	probably damaging	Het
Unc45b	A	C	11: 82,926,087 (GRCm38)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,363,987 (GRCm38)	M687V	probably benign	Het
Vmn2r68	T	A	7: 85,234,052 (GRCm38)	H164L	probably benign	Het
Vps51	A	G	19: 6,069,469 (GRCm38)	V625A	probably benign	Het
Wapl	T	A	14: 34,691,912 (GRCm38)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,823,403 (GRCm38)	T794I	probably benign	Het

Other mutations in Spatc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Spatc1l	APN	10	76,569,656 (GRCm38)	splice site	probably benign
R0587:Spatc1l	UTSW	10	76,564,177 (GRCm38)	missense	possibly damaging	0.76
R1079:Spatc1l	UTSW	10	76,563,907 (GRCm38)	missense	probably damaging	1.00
R2050:Spatc1l	UTSW	10	76,564,058 (GRCm38)	missense	probably damaging	1.00
R3786:Spatc1l	UTSW	10	76,563,902 (GRCm38)	missense	probably benign	0.00
R4016:Spatc1l	UTSW	10	76,562,489 (GRCm38)	missense	probably benign	0.00
R4803:Spatc1l	UTSW	10	76,569,372 (GRCm38)	missense	probably damaging	1.00
R6620:Spatc1l	UTSW	10	76,569,922 (GRCm38)	missense	probably damaging	1.00
R6896:Spatc1l	UTSW	10	76,569,408 (GRCm38)	missense	probably damaging	1.00
R7143:Spatc1l	UTSW	10	76,569,931 (GRCm38)	missense	probably damaging	1.00
R7832:Spatc1l	UTSW	10	76,562,390 (GRCm38)	missense	probably benign	0.02
R9285:Spatc1l	UTSW	10	76,562,430 (GRCm38)	missense	probably damaging	1.00
R9293:Spatc1l	UTSW	10	76,569,366 (GRCm38)	missense	probably damaging	1.00
R9774:Spatc1l	UTSW	10	76,569,334 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTCTATCTCCAGATGAAATGCC -3'
(R):5'- AAGCAGTGTTTTGTCAGCCAG -3'

Sequencing Primer
(F):5'- CTATCTCCAGATGAAATGCCAGGGG -3'
(R):5'- TTTGTCAGCCAGGGAGTCC -3'

Posted On

2014-06-30