Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00915:Spata31d1a'

28838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

1700013B16Rik, Fam75d3, Fam75d1a

Accession Numbers

Essential gene?

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

Stock #

IGL00915

Quality Score

Status

Chromosome

Chromosomal Location

59847897-59854401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59849999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 710 (S710G)

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: S710G

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S710G

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: S710G

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,593,220 (GRCm39)	Y206N	probably damaging	Het
Aebp2	A	G	6: 140,587,980 (GRCm39)	N350S	probably benign	Het
Cerkl	A	G	2: 79,171,843 (GRCm39)	S367P	probably benign	Het
Ddx60	T	G	8: 62,440,465 (GRCm39)	V1039G	possibly damaging	Het
Fstl4	A	T	11: 53,067,825 (GRCm39)	M563L	probably benign	Het
Fzd9	C	T	5: 135,278,323 (GRCm39)	V521M	probably damaging	Het
Gorab	C	T	1: 163,224,426 (GRCm39)	R125Q	probably benign	Het
Macc1	G	A	12: 119,410,749 (GRCm39)	D506N	probably benign	Het
Mettl17	C	A	14: 52,124,746 (GRCm39)	F119L	probably benign	Het
Nbas	C	A	12: 13,424,753 (GRCm39)	C997*	probably null	Het
Neil1	A	G	9: 57,051,261 (GRCm39)		probably null	Het
Or2r11	A	G	6: 42,437,884 (GRCm39)	I23T	probably benign	Het
Prune2	A	G	19: 16,993,617 (GRCm39)	E185G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,442 (GRCm39)	S1522P	probably damaging	Het
Scd1	A	G	19: 44,388,796 (GRCm39)	L218P	possibly damaging	Het
Setdb1	A	T	3: 95,254,099 (GRCm39)	F234L	probably damaging	Het
Sos1	A	G	17: 80,741,367 (GRCm39)	S473P	probably benign	Het
Srp72	C	A	5: 77,126,460 (GRCm39)	C87*	probably null	Het
Tas2r126	T	A	6: 42,412,283 (GRCm39)	I272K	possibly damaging	Het
Trim38	A	T	13: 23,975,015 (GRCm39)	Y318F	possibly damaging	Het
Trnt1	A	G	6: 106,756,387 (GRCm39)	K433E	probably benign	Het
Umodl1	A	G	17: 31,227,724 (GRCm39)		probably benign	Het
Urb1	A	G	16: 90,575,986 (GRCm39)	F857L	possibly damaging	Het
Vps45	A	G	3: 95,953,662 (GRCm39)		probably null	Het
Zfhx4	A	T	3: 5,310,583 (GRCm39)	I989F	probably damaging	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6359:Spata31d1a	UTSW	13	59,850,920 (GRCm39)	missense	probably benign
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

Posted On

2013-04-17