Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03224:Spata31d1a'

413740

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 #

IGL03224

Quality Score

Status

Chromosome

Chromosomal Location

59847897-59854401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59848840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1096 (V1096A)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

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

AlphaFold

E9QA35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066510
AA Change: V1096A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: V1096A

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

possibly damaging
Transcript: ENSMUST00000224982
AA Change: V1096A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	C	3: 88,942,575 (GRCm39)		probably benign	Het
Capn10	T	G	1: 92,867,046 (GRCm39)	V92G	probably damaging	Het
Cntn2	A	G	1: 132,450,780 (GRCm39)	C532R	probably damaging	Het
Csf1r	T	C	18: 61,245,134 (GRCm39)	F233L	probably damaging	Het
Cts6	T	C	13: 61,349,547 (GRCm39)	D82G	probably damaging	Het
Cym	T	C	3: 107,126,048 (GRCm39)	S72G	possibly damaging	Het
Cyp4a29	T	A	4: 115,104,247 (GRCm39)	M105K	probably damaging	Het
Dhx35	T	C	2: 158,699,052 (GRCm39)		probably benign	Het
Dnah5	C	A	15: 28,459,300 (GRCm39)	D4506E	probably damaging	Het
Dok5	T	C	2: 170,674,807 (GRCm39)	F139L	possibly damaging	Het
Dync2h1	T	C	9: 7,076,235 (GRCm39)	D2974G	probably benign	Het
Frem3	C	T	8: 81,340,092 (GRCm39)	T795I	probably damaging	Het
Ints6l	A	G	X: 55,543,287 (GRCm39)	T525A	probably damaging	Het
Lrp1b	T	C	2: 41,361,043 (GRCm39)	T587A	possibly damaging	Het
Meikin	A	G	11: 54,289,286 (GRCm39)	M220V	probably benign	Het
Mmp12	T	A	9: 7,350,002 (GRCm39)		probably benign	Het
Mpp7	T	C	18: 7,403,269 (GRCm39)	D347G	probably benign	Het
Myo3b	A	G	2: 70,180,283 (GRCm39)	Y1190C	probably benign	Het
Myo5c	A	G	9: 75,185,525 (GRCm39)	K963E	probably benign	Het
Nipbl	T	C	15: 8,322,569 (GRCm39)	D2614G	probably damaging	Het
Ppp1r3f	A	G	X: 7,426,821 (GRCm39)	V480A	probably benign	Het
Prkcb	A	T	7: 122,116,147 (GRCm39)	K209*	probably null	Het
Rasgef1a	A	G	6: 118,066,767 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,784,681 (GRCm39)	C233*	probably null	Het
Scn8a	A	G	15: 100,933,520 (GRCm39)	R1534G	probably damaging	Het
Slitrk3	A	T	3: 72,957,263 (GRCm39)	L503H	possibly damaging	Het
Spag17	A	G	3: 99,918,156 (GRCm39)	K380E	possibly damaging	Het
Synrg	C	T	11: 83,930,492 (GRCm39)	T1278M	possibly damaging	Het
Teddm1a	G	T	1: 153,767,763 (GRCm39)	V76F	possibly damaging	Het
Troap	A	G	15: 98,979,758 (GRCm39)	T365A	probably benign	Het
Vps35l	A	G	7: 118,391,776 (GRCm39)		probably benign	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
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

2016-08-02