Mutagenetix > Incidental Mutation

Incidental Mutation 'R6359:Spata31d1a'

514200

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

1700013B16Rik, Fam75d3, Fam75d1a

MMRRC Submission

044509-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59847897-59854401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59850920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 403 (S403P)

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: S403P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S403P

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: S403P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic5	A	T	3: 81,911,803 (GRCm39)	D133V	possibly damaging	Het
Atp11b	A	G	3: 35,832,210 (GRCm39)	I22V	probably benign	Het
Ccdc18	C	T	5: 108,283,391 (GRCm39)	T34I	probably damaging	Het
Ces2a	A	G	8: 105,462,710 (GRCm39)	I100V	probably benign	Het
Ddi2	T	A	4: 141,411,899 (GRCm39)	T338S	probably damaging	Het
Dync1li1	A	G	9: 114,542,638 (GRCm39)	I267V	probably benign	Het
Eif1ad14	G	A	12: 87,886,275 (GRCm39)	T118M	probably benign	Het
Fbxo10	A	T	4: 45,041,796 (GRCm39)	V637E	possibly damaging	Het
Gak	T	C	5: 108,719,766 (GRCm39)	E458G	probably damaging	Het
Glp1r	G	T	17: 31,148,946 (GRCm39)	V287F	probably damaging	Het
Gsdmc2	T	C	15: 63,696,866 (GRCm39)	E435G	probably damaging	Het
Hsd11b1	T	A	1: 192,924,660 (GRCm39)		probably benign	Het
Igkv13-84	T	G	6: 68,916,592 (GRCm39)	F3V	probably benign	Het
Igsf9b	C	A	9: 27,220,895 (GRCm39)	A87E	probably benign	Het
Ints1	G	T	5: 139,741,972 (GRCm39)	L1796I	probably benign	Het
Ipo8	A	G	6: 148,678,748 (GRCm39)	L950P	probably benign	Het
Lama5	T	C	2: 179,837,775 (GRCm39)	D931G	probably benign	Het
Lamb1	A	G	12: 31,332,715 (GRCm39)	E327G	probably damaging	Het
Lrp1b	T	C	2: 41,185,608 (GRCm39)	Y1369C	probably damaging	Het
Mapk3	A	G	7: 126,359,928 (GRCm39)	T67A	probably benign	Het
Mrpl4	T	A	9: 20,919,030 (GRCm39)	V225E	probably damaging	Het
Ncln	C	T	10: 81,326,118 (GRCm39)	G278S	probably damaging	Het
Nlrp3	G	A	11: 59,439,392 (GRCm39)	R323Q	probably damaging	Het
Nol8	A	G	13: 49,817,546 (GRCm39)	D774G	probably benign	Het
Or11i1	A	T	3: 106,729,731 (GRCm39)	I48N	probably damaging	Het
Or52p1	T	C	7: 104,267,510 (GRCm39)	V208A	probably damaging	Het
Plekha8	G	T	6: 54,590,104 (GRCm39)	C23F	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Spata31d1c	A	T	13: 65,183,406 (GRCm39)	N316I	possibly damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Ttn	T	G	2: 76,569,300 (GRCm39)	N18871H	possibly damaging	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Spata31d1a	APN	13	59,849,999 (GRCm39)	missense	probably benign	0.27
IGL01397:Spata31d1a	APN	13	59,849,552 (GRCm39)	missense	probably damaging	0.99
IGL01448:Spata31d1a	APN	13	59,849,373 (GRCm39)	missense	probably benign	0.06
IGL02715:Spata31d1a	APN	13	59,851,549 (GRCm39)	missense	probably benign	0.44
IGL02983:Spata31d1a	APN	13	59,851,508 (GRCm39)	missense	possibly damaging	0.65
IGL03224:Spata31d1a	APN	13	59,848,840 (GRCm39)	missense	possibly damaging	0.85
PIT1430001:Spata31d1a	UTSW	13	59,849,010 (GRCm39)	missense	probably benign
R0302:Spata31d1a	UTSW	13	59,850,964 (GRCm39)	missense	probably benign
R0387:Spata31d1a	UTSW	13	59,851,315 (GRCm39)	missense	probably damaging	0.99
R0464:Spata31d1a	UTSW	13	59,849,573 (GRCm39)	missense	possibly damaging	0.85
R0606:Spata31d1a	UTSW	13	59,850,245 (GRCm39)	missense	probably benign	0.03
R0617:Spata31d1a	UTSW	13	59,850,073 (GRCm39)	missense	possibly damaging	0.53
R0691:Spata31d1a	UTSW	13	59,848,199 (GRCm39)	missense	possibly damaging	0.93
R0746:Spata31d1a	UTSW	13	59,850,077 (GRCm39)	missense	possibly damaging	0.95
R1019:Spata31d1a	UTSW	13	59,850,182 (GRCm39)	missense	probably benign
R1397:Spata31d1a	UTSW	13	59,852,853 (GRCm39)	splice site	probably benign
R1543:Spata31d1a	UTSW	13	59,850,056 (GRCm39)	missense	probably benign
R1619:Spata31d1a	UTSW	13	59,850,247 (GRCm39)	nonsense	probably null
R1799:Spata31d1a	UTSW	13	59,851,216 (GRCm39)	missense	probably benign
R1820:Spata31d1a	UTSW	13	59,849,069 (GRCm39)	missense	possibly damaging	0.86
R1885:Spata31d1a	UTSW	13	59,849,821 (GRCm39)	missense	probably damaging	0.99
R1909:Spata31d1a	UTSW	13	59,850,509 (GRCm39)	missense	probably damaging	0.99
R2012:Spata31d1a	UTSW	13	59,850,370 (GRCm39)	missense	possibly damaging	0.93
R2099:Spata31d1a	UTSW	13	59,853,885 (GRCm39)	missense	probably damaging	0.97
R2132:Spata31d1a	UTSW	13	59,848,857 (GRCm39)	missense	probably damaging	0.96
R2224:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2225:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2226:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2358:Spata31d1a	UTSW	13	59,851,702 (GRCm39)	missense	probably benign	0.00
R2495:Spata31d1a	UTSW	13	59,849,807 (GRCm39)	missense	possibly damaging	0.93
R3081:Spata31d1a	UTSW	13	59,850,907 (GRCm39)	missense	probably benign	0.15
R3151:Spata31d1a	UTSW	13	59,849,180 (GRCm39)	missense	probably benign	0.06
R3971:Spata31d1a	UTSW	13	59,849,971 (GRCm39)	missense	possibly damaging	0.85
R4156:Spata31d1a	UTSW	13	59,852,861 (GRCm39)	missense	possibly damaging	0.92
R4760:Spata31d1a	UTSW	13	59,849,459 (GRCm39)	missense	probably damaging	1.00
R4767:Spata31d1a	UTSW	13	59,848,969 (GRCm39)	missense	probably benign	0.03
R4877:Spata31d1a	UTSW	13	59,850,337 (GRCm39)	missense	probably damaging	0.99
R4894:Spata31d1a	UTSW	13	59,849,542 (GRCm39)	missense	probably damaging	0.98
R4961:Spata31d1a	UTSW	13	59,849,716 (GRCm39)	missense	possibly damaging	0.86
R4990:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R4991:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R4992:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R5088:Spata31d1a	UTSW	13	59,848,966 (GRCm39)	splice site	probably null
R5094:Spata31d1a	UTSW	13	59,852,858 (GRCm39)	critical splice donor site	probably null
R5330:Spata31d1a	UTSW	13	59,848,217 (GRCm39)	missense	possibly damaging	0.86
R5587:Spata31d1a	UTSW	13	59,850,432 (GRCm39)	missense	probably damaging	0.96
R5832:Spata31d1a	UTSW	13	59,849,380 (GRCm39)	missense	probably damaging	0.98
R6073:Spata31d1a	UTSW	13	59,850,808 (GRCm39)	missense	probably damaging	0.98
R6208:Spata31d1a	UTSW	13	59,848,378 (GRCm39)	missense	probably damaging	0.98
R6224:Spata31d1a	UTSW	13	59,854,134 (GRCm39)	start gained	probably benign
R6250:Spata31d1a	UTSW	13	59,849,615 (GRCm39)	missense	possibly damaging	0.93
R6806:Spata31d1a	UTSW	13	59,851,032 (GRCm39)	missense	probably benign
R6848:Spata31d1a	UTSW	13	59,849,777 (GRCm39)	missense	possibly damaging	0.91
R6851:Spata31d1a	UTSW	13	59,851,725 (GRCm39)	missense	unknown
R6985:Spata31d1a	UTSW	13	59,850,907 (GRCm39)	missense	probably benign	0.15
R7007:Spata31d1a	UTSW	13	59,851,448 (GRCm39)	missense	probably benign
R7037:Spata31d1a	UTSW	13	59,848,138 (GRCm39)	missense	possibly damaging	0.96
R7124:Spata31d1a	UTSW	13	59,850,301 (GRCm39)	missense	probably damaging	0.99
R7271:Spata31d1a	UTSW	13	59,849,913 (GRCm39)	missense	probably benign	0.00
R7346:Spata31d1a	UTSW	13	59,851,015 (GRCm39)	missense	probably benign
R7556:Spata31d1a	UTSW	13	59,849,798 (GRCm39)	missense	probably benign	0.00
R7581:Spata31d1a	UTSW	13	59,851,953 (GRCm39)	critical splice donor site	probably null
R7891:Spata31d1a	UTSW	13	59,848,139 (GRCm39)	missense	possibly damaging	0.96
R7995:Spata31d1a	UTSW	13	59,848,924 (GRCm39)	missense	probably benign	0.06
R8379:Spata31d1a	UTSW	13	59,850,668 (GRCm39)	missense	probably benign	0.00
R8497:Spata31d1a	UTSW	13	59,848,988 (GRCm39)	missense	possibly damaging	0.91
R8837:Spata31d1a	UTSW	13	59,850,596 (GRCm39)	missense	possibly damaging	0.92
R9108:Spata31d1a	UTSW	13	59,850,982 (GRCm39)	missense	probably benign	0.00
Z1177:Spata31d1a	UTSW	13	59,850,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGAATGACTGCCTGTGG -3'
(R):5'- GGATCATTTGTCTCCCAGCC -3'

Sequencing Primer
(F):5'- CCTGTGGAGGCCTGAGC -3'
(R):5'- GATGTCTTAGCACTCTTCACGAAG -3'

Posted On

2018-04-27