Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Spata31d1a'

54172

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0606 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

59699806-59710330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59702431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 628 (S628G)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]

AlphaFold

E9QA35

Predicted Effect

probably benign
Transcript: ENSMUST00000066510
AA Change: S628G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S628G

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	66	150	3.7e-25	PFAM
low complexity region	196	217	N/A	INTRINSIC
low complexity region	240	266	N/A	INTRINSIC
Pfam:FAM75	400	772	2.9e-108	PFAM
low complexity region	1144	1154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224469

Predicted Effect

probably benign
Transcript: ENSMUST00000224982
AA Change: S628G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,089 (GRCm38)	Y128H	probably damaging	Het
Actl9	T	C	17: 33,433,598 (GRCm38)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,174,647 (GRCm38)		probably benign	Het
Adtrp	A	G	13: 41,767,405 (GRCm38)	F197L	probably damaging	Het
Ankrd11	G	A	8: 122,892,832 (GRCm38)	T1406I	probably benign	Het
Arhgap24	A	T	5: 102,897,220 (GRCm38)	R620W	probably damaging	Het
Atg13	A	G	2: 91,682,073 (GRCm38)	Y284H	probably benign	Het
Atrn	A	G	2: 130,906,856 (GRCm38)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,016,494 (GRCm38)		probably benign	Het
Ccr3	T	A	9: 124,028,802 (GRCm38)	M58K	probably benign	Het
Cdk18	G	T	1: 132,117,617 (GRCm38)		probably benign	Het
Chst5	A	G	8: 111,890,919 (GRCm38)	V23A	probably benign	Het
Col4a3	T	C	1: 82,672,586 (GRCm38)		probably benign	Het
Col4a6	A	G	X: 141,192,223 (GRCm38)		probably benign	Het
Csmd3	T	C	15: 48,457,662 (GRCm38)	I251V	probably benign	Het
Csnk1g3	G	A	18: 53,917,028 (GRCm38)	V115M	probably damaging	Het
Cst7	A	T	2: 150,570,519 (GRCm38)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,527,843 (GRCm38)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,906,004 (GRCm38)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,830,746 (GRCm38)		probably benign	Het
Dhx58	T	A	11: 100,702,251 (GRCm38)	H210L	probably benign	Het
Dnah9	T	C	11: 65,841,333 (GRCm38)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,048,893 (GRCm38)	L990H	probably damaging	Het
Faap24	T	C	7: 35,394,963 (GRCm38)		probably benign	Het
Fryl	T	A	5: 73,124,734 (GRCm38)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm38)	W15R	probably benign	Het
Gif	A	T	19: 11,752,294 (GRCm38)	I206F	possibly damaging	Het
Gm15446	T	C	5: 109,943,481 (GRCm38)	V533A	probably benign	Het
Gm6760	T	A	X: 64,151,653 (GRCm38)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm38)	E444K	possibly damaging	Het
Gpr173	T	A	X: 152,347,040 (GRCm38)	M146L	possibly damaging	Het
Hira	C	T	16: 18,935,047 (GRCm38)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,863,984 (GRCm38)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,658,390 (GRCm38)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,832,588 (GRCm38)	I40F	probably benign	Het
Hydin	C	T	8: 110,549,798 (GRCm38)		probably benign	Het
Ift172	A	G	5: 31,254,313 (GRCm38)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,959,901 (GRCm38)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,504,272 (GRCm38)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,261 (GRCm38)		probably benign	Het
Itgb1	A	T	8: 128,722,372 (GRCm38)		probably benign	Het
Kctd21	G	A	7: 97,347,601 (GRCm38)	E94K	probably benign	Het
Kir3dl2	A	G	X: 136,453,511 (GRCm38)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,220,224 (GRCm38)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,029,621 (GRCm38)	C401S	probably damaging	Het
Lmna	T	C	3: 88,482,578 (GRCm38)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,150 (GRCm38)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,391,389 (GRCm38)	R116*	probably null	Het
Ndrg2	G	T	14: 51,906,217 (GRCm38)	R333S	probably damaging	Het
Nf2	A	G	11: 4,782,194 (GRCm38)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,749,290 (GRCm38)		probably benign	Het
Nkx3-1	G	A	14: 69,191,006 (GRCm38)		probably benign	Het
Npat	T	C	9: 53,556,481 (GRCm38)		probably null	Het
Nrxn1	T	C	17: 90,565,373 (GRCm38)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,026,929 (GRCm38)	I1402N	possibly damaging	Het
Olfr1168	G	T	2: 88,185,280 (GRCm38)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,856,760 (GRCm38)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,312,481 (GRCm38)	S182N	probably benign	Het
Pdia3	G	A	2: 121,432,377 (GRCm38)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,840,704 (GRCm38)	F669L	probably benign	Het
Plekha8	A	G	6: 54,629,820 (GRCm38)	K367E	probably damaging	Het
Pola1	A	G	X: 93,488,087 (GRCm38)		probably benign	Het
Ppm1d	C	T	11: 85,345,877 (GRCm38)	T494I	probably benign	Het
Pramef25	T	A	4: 143,949,883 (GRCm38)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,314,194 (GRCm38)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,444,444 (GRCm38)	G45D	probably damaging	Het
Rev1	T	A	1: 38,059,123 (GRCm38)	R780W	probably null	Het
Rnf139	T	A	15: 58,899,827 (GRCm38)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,514,348 (GRCm38)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,999,940 (GRCm38)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,088,723 (GRCm38)	H221L	probably benign	Het
Smo	A	C	6: 29,753,604 (GRCm38)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,179,300 (GRCm38)		probably benign	Het
Snf8	G	T	11: 96,034,973 (GRCm38)		probably benign	Het
Sphkap	A	T	1: 83,280,424 (GRCm38)	D199E	probably damaging	Het
Stxbp5l	T	C	16: 37,204,521 (GRCm38)	T572A	possibly damaging	Het
Thada	C	A	17: 84,416,303 (GRCm38)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm38)	Q735R	probably benign	Het
Tmem29	C	T	X: 150,398,364 (GRCm38)	A144T	probably benign	Het
Trim24	G	A	6: 37,871,234 (GRCm38)	E42K	probably benign	Het
Trnt1	T	A	6: 106,777,908 (GRCm38)		probably benign	Het
Ttbk2	A	T	2: 120,773,872 (GRCm38)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,943,459 (GRCm38)		probably benign	Het
Ube3c	A	G	5: 29,590,928 (GRCm38)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,530,983 (GRCm38)		probably benign	Het
Usp36	A	G	11: 118,263,028 (GRCm38)		probably benign	Het
Vmn2r102	T	C	17: 19,678,844 (GRCm38)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,588,130 (GRCm38)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,926,683 (GRCm38)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,638,208 (GRCm38)		probably benign	Het
Zar1	G	T	5: 72,580,543 (GRCm38)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,423,610 (GRCm38)	Y154H	probably benign	Het
Zer1	G	T	2: 30,104,797 (GRCm38)		probably benign	Het
Zfp454	A	G	11: 50,874,185 (GRCm38)	F140S	probably benign	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Spata31d1a	APN	13	59,702,185 (GRCm38)	missense	probably benign	0.27
IGL01397:Spata31d1a	APN	13	59,701,738 (GRCm38)	missense	probably damaging	0.99
IGL01448:Spata31d1a	APN	13	59,701,559 (GRCm38)	missense	probably benign	0.06
IGL02715:Spata31d1a	APN	13	59,703,735 (GRCm38)	missense	probably benign	0.44
IGL02983:Spata31d1a	APN	13	59,703,694 (GRCm38)	missense	possibly damaging	0.65
IGL03224:Spata31d1a	APN	13	59,701,026 (GRCm38)	missense	possibly damaging	0.85
PIT1430001:Spata31d1a	UTSW	13	59,701,196 (GRCm38)	missense	probably benign
R0302:Spata31d1a	UTSW	13	59,703,150 (GRCm38)	missense	probably benign
R0387:Spata31d1a	UTSW	13	59,703,501 (GRCm38)	missense	probably damaging	0.99
R0464:Spata31d1a	UTSW	13	59,701,759 (GRCm38)	missense	possibly damaging	0.85
R0617:Spata31d1a	UTSW	13	59,702,259 (GRCm38)	missense	possibly damaging	0.53
R0691:Spata31d1a	UTSW	13	59,700,385 (GRCm38)	missense	possibly damaging	0.93
R0746:Spata31d1a	UTSW	13	59,702,263 (GRCm38)	missense	possibly damaging	0.95
R1019:Spata31d1a	UTSW	13	59,702,368 (GRCm38)	missense	probably benign
R1397:Spata31d1a	UTSW	13	59,705,039 (GRCm38)	splice site	probably benign
R1543:Spata31d1a	UTSW	13	59,702,242 (GRCm38)	missense	probably benign
R1619:Spata31d1a	UTSW	13	59,702,433 (GRCm38)	nonsense	probably null
R1799:Spata31d1a	UTSW	13	59,703,402 (GRCm38)	missense	probably benign
R1820:Spata31d1a	UTSW	13	59,701,255 (GRCm38)	missense	possibly damaging	0.86
R1885:Spata31d1a	UTSW	13	59,702,007 (GRCm38)	missense	probably damaging	0.99
R1909:Spata31d1a	UTSW	13	59,702,695 (GRCm38)	missense	probably damaging	0.99
R2012:Spata31d1a	UTSW	13	59,702,556 (GRCm38)	missense	possibly damaging	0.93
R2099:Spata31d1a	UTSW	13	59,706,071 (GRCm38)	missense	probably damaging	0.97
R2132:Spata31d1a	UTSW	13	59,701,043 (GRCm38)	missense	probably damaging	0.96
R2224:Spata31d1a	UTSW	13	59,703,715 (GRCm38)	missense	probably benign
R2225:Spata31d1a	UTSW	13	59,703,715 (GRCm38)	missense	probably benign
R2226:Spata31d1a	UTSW	13	59,703,715 (GRCm38)	missense	probably benign
R2358:Spata31d1a	UTSW	13	59,703,888 (GRCm38)	missense	probably benign	0.00
R2495:Spata31d1a	UTSW	13	59,701,993 (GRCm38)	missense	possibly damaging	0.93
R3081:Spata31d1a	UTSW	13	59,703,093 (GRCm38)	missense	probably benign	0.15
R3151:Spata31d1a	UTSW	13	59,701,366 (GRCm38)	missense	probably benign	0.06
R3971:Spata31d1a	UTSW	13	59,702,157 (GRCm38)	missense	possibly damaging	0.85
R4156:Spata31d1a	UTSW	13	59,705,047 (GRCm38)	missense	possibly damaging	0.92
R4760:Spata31d1a	UTSW	13	59,701,645 (GRCm38)	missense	probably damaging	1.00
R4767:Spata31d1a	UTSW	13	59,701,155 (GRCm38)	missense	probably benign	0.03
R4877:Spata31d1a	UTSW	13	59,702,523 (GRCm38)	missense	probably damaging	0.99
R4894:Spata31d1a	UTSW	13	59,701,728 (GRCm38)	missense	probably damaging	0.98
R4961:Spata31d1a	UTSW	13	59,701,902 (GRCm38)	missense	possibly damaging	0.86
R4990:Spata31d1a	UTSW	13	59,703,151 (GRCm38)	missense	probably benign	0.00
R4991:Spata31d1a	UTSW	13	59,703,151 (GRCm38)	missense	probably benign	0.00
R4992:Spata31d1a	UTSW	13	59,703,151 (GRCm38)	missense	probably benign	0.00
R5088:Spata31d1a	UTSW	13	59,701,152 (GRCm38)	splice site	probably null
R5094:Spata31d1a	UTSW	13	59,705,044 (GRCm38)	critical splice donor site	probably null
R5330:Spata31d1a	UTSW	13	59,700,403 (GRCm38)	missense	possibly damaging	0.86
R5587:Spata31d1a	UTSW	13	59,702,618 (GRCm38)	missense	probably damaging	0.96
R5832:Spata31d1a	UTSW	13	59,701,566 (GRCm38)	missense	probably damaging	0.98
R6073:Spata31d1a	UTSW	13	59,702,994 (GRCm38)	missense	probably damaging	0.98
R6208:Spata31d1a	UTSW	13	59,700,564 (GRCm38)	missense	probably damaging	0.98
R6224:Spata31d1a	UTSW	13	59,706,320 (GRCm38)	start gained	probably benign
R6250:Spata31d1a	UTSW	13	59,701,801 (GRCm38)	missense	possibly damaging	0.93
R6359:Spata31d1a	UTSW	13	59,703,106 (GRCm38)	missense	probably benign
R6806:Spata31d1a	UTSW	13	59,703,218 (GRCm38)	missense	probably benign
R6848:Spata31d1a	UTSW	13	59,701,963 (GRCm38)	missense	possibly damaging	0.91
R6851:Spata31d1a	UTSW	13	59,703,911 (GRCm38)	missense	unknown
R6985:Spata31d1a	UTSW	13	59,703,093 (GRCm38)	missense	probably benign	0.15
R7007:Spata31d1a	UTSW	13	59,703,634 (GRCm38)	missense	probably benign
R7037:Spata31d1a	UTSW	13	59,700,324 (GRCm38)	missense	possibly damaging	0.96
R7124:Spata31d1a	UTSW	13	59,702,487 (GRCm38)	missense	probably damaging	0.99
R7271:Spata31d1a	UTSW	13	59,702,099 (GRCm38)	missense	probably benign	0.00
R7346:Spata31d1a	UTSW	13	59,703,201 (GRCm38)	missense	probably benign
R7556:Spata31d1a	UTSW	13	59,701,984 (GRCm38)	missense	probably benign	0.00
R7581:Spata31d1a	UTSW	13	59,704,139 (GRCm38)	critical splice donor site	probably null
R7891:Spata31d1a	UTSW	13	59,700,325 (GRCm38)	missense	possibly damaging	0.96
R7995:Spata31d1a	UTSW	13	59,701,110 (GRCm38)	missense	probably benign	0.06
R8379:Spata31d1a	UTSW	13	59,702,854 (GRCm38)	missense	probably benign	0.00
R8497:Spata31d1a	UTSW	13	59,701,174 (GRCm38)	missense	possibly damaging	0.91
R8837:Spata31d1a	UTSW	13	59,702,782 (GRCm38)	missense	possibly damaging	0.92
R9108:Spata31d1a	UTSW	13	59,703,168 (GRCm38)	missense	probably benign	0.00
Z1177:Spata31d1a	UTSW	13	59,703,085 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGCACTGTCTGACCCATGAAG -3'
(R):5'- TCATCCAAGGTCCATGCTCCCAAG -3'

Sequencing Primer
(F):5'- GTAGCTCCACAGGACTTACATTG -3'
(R):5'- AAGACAATCCTTCCTGGAGAC -3'

Posted On

2013-07-11