Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02830:Spata31d1c'

361368

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

65180872-65185816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65183180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 241 (T241A)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099427]

AlphaFold

E9QAF1

Predicted Effect

probably benign
Transcript: ENSMUST00000099427
AA Change: T241A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: T241A

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:DUF4599	63	148	2.4e-31	PFAM
low complexity region	178	190	N/A	INTRINSIC
low complexity region	196	213	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
Pfam:FAM75	380	742	1.4e-120	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,348,235 (GRCm39)	E67D	possibly damaging	Het
Acad11	T	A	9: 103,953,118 (GRCm39)	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298 (GRCm38)	T160I	probably damaging	Het
Anxa7	A	T	14: 20,506,608 (GRCm39)	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,297,711 (GRCm39)	D423G	probably benign	Het
Cela3a	T	C	4: 137,128,946 (GRCm39)	N282S	probably benign	Het
Cyp2c50	G	A	19: 40,086,500 (GRCm39)	V296I	probably benign	Het
Fcgbpl1	C	A	7: 27,862,348 (GRCm39)	H2471Q	probably damaging	Het
Fgd3	A	G	13: 49,418,107 (GRCm39)		probably benign	Het
Gfus	C	T	15: 75,797,437 (GRCm39)	V275I	probably benign	Het
Gimap8	G	A	6: 48,633,239 (GRCm39)	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787 (GRCm39)	M900L	possibly damaging	Het
H1f0	T	G	15: 78,913,511 (GRCm39)		probably benign	Het
Heatr1	T	C	13: 12,441,093 (GRCm39)	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096 (GRCm39)	S157T	possibly damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Klc1	T	C	12: 111,743,341 (GRCm39)	Y223H	probably damaging	Het
Klhl33	C	T	14: 51,129,214 (GRCm39)	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,592,393 (GRCm39)	L34F	probably damaging	Het
Nalcn	C	T	14: 123,530,881 (GRCm39)	V1386I	probably damaging	Het
Or14c39	T	G	7: 86,344,382 (GRCm39)	C239W	probably damaging	Het
Or4b13	A	T	2: 90,083,125 (GRCm39)	I69N	probably damaging	Het
Or51b6	C	T	7: 103,555,651 (GRCm39)	P2S	probably benign	Het
Or5ac19	A	G	16: 59,089,416 (GRCm39)	S205P	possibly damaging	Het
Orc5	A	T	5: 22,734,265 (GRCm39)	L173Q	probably damaging	Het
Otud4	T	G	8: 80,399,930 (GRCm39)	D880E	probably benign	Het
Pde12	T	C	14: 26,389,740 (GRCm39)	Y323C	probably damaging	Het
Pde8b	G	T	13: 95,189,409 (GRCm39)	D198E	probably benign	Het
Prom2	T	A	2: 127,376,989 (GRCm39)	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,283,488 (GRCm39)	T952I	probably benign	Het
Ribc2	T	A	15: 85,016,458 (GRCm39)		probably benign	Het
Sec31b	C	T	19: 44,520,142 (GRCm39)	R214K	probably damaging	Het
Senp5	G	A	16: 31,802,303 (GRCm39)		probably benign	Het
Sh3pxd2a	G	A	19: 47,271,517 (GRCm39)	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,711,441 (GRCm39)		probably null	Het
Tac1	G	A	6: 7,555,650 (GRCm39)	V13I	probably benign	Het
Tnnc2	T	A	2: 164,619,430 (GRCm39)	D138V	probably null	Het
Tspan32	T	A	7: 142,571,329 (GRCm39)	M159K	possibly damaging	Het
Ttc28	A	T	5: 111,434,105 (GRCm39)	T2380S	probably benign	Het
Ubc	T	A	5: 125,464,377 (GRCm39)	I317F	probably damaging	Het
Usp24	T	C	4: 106,204,584 (GRCm39)	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,356,884 (GRCm39)	H850Q	probably benign	Het
Xrn1	T	C	9: 95,900,234 (GRCm39)		probably null	Het
Zfp329	A	C	7: 12,544,043 (GRCm39)	C494G	probably damaging	Het
Zfp54	T	C	17: 21,653,718 (GRCm39)	S71P	probably damaging	Het

Other mutations in Spata31d1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Spata31d1c	APN	13	65,183,903 (GRCm39)	missense	probably damaging	1.00
IGL02947:Spata31d1c	APN	13	65,182,759 (GRCm39)	nonsense	probably null
IGL03133:Spata31d1c	APN	13	65,182,799 (GRCm39)	missense	probably benign	0.18
IGL03176:Spata31d1c	APN	13	65,184,825 (GRCm39)	missense	probably benign	0.01
IGL03183:Spata31d1c	APN	13	65,183,009 (GRCm39)	missense	possibly damaging	0.86
IGL03206:Spata31d1c	APN	13	65,183,407 (GRCm39)	missense	probably benign	0.41
PIT4382001:Spata31d1c	UTSW	13	65,183,985 (GRCm39)	missense	probably benign	0.01
R0054:Spata31d1c	UTSW	13	65,180,876 (GRCm39)	start gained	probably benign
R0959:Spata31d1c	UTSW	13	65,184,129 (GRCm39)	missense	probably damaging	1.00
R1232:Spata31d1c	UTSW	13	65,184,428 (GRCm39)	missense	probably benign
R1347:Spata31d1c	UTSW	13	65,183,202 (GRCm39)	missense	probably benign	0.00
R1347:Spata31d1c	UTSW	13	65,183,202 (GRCm39)	missense	probably benign	0.00
R1381:Spata31d1c	UTSW	13	65,184,368 (GRCm39)	missense	probably benign	0.08
R1573:Spata31d1c	UTSW	13	65,182,883 (GRCm39)	missense	possibly damaging	0.92
R1582:Spata31d1c	UTSW	13	65,181,038 (GRCm39)	missense	probably benign
R1639:Spata31d1c	UTSW	13	65,183,853 (GRCm39)	missense	probably benign
R1716:Spata31d1c	UTSW	13	65,181,030 (GRCm39)	missense	possibly damaging	0.86
R1781:Spata31d1c	UTSW	13	65,183,985 (GRCm39)	missense	probably benign	0.01
R1907:Spata31d1c	UTSW	13	65,183,690 (GRCm39)	missense	probably benign	0.03
R2012:Spata31d1c	UTSW	13	65,183,041 (GRCm39)	missense	possibly damaging	0.91
R2152:Spata31d1c	UTSW	13	65,181,779 (GRCm39)	critical splice donor site	probably null
R2211:Spata31d1c	UTSW	13	65,183,753 (GRCm39)	missense	probably benign	0.04
R2571:Spata31d1c	UTSW	13	65,184,198 (GRCm39)	missense	probably damaging	1.00
R2908:Spata31d1c	UTSW	13	65,181,005 (GRCm39)	missense	possibly damaging	0.63
R3978:Spata31d1c	UTSW	13	65,182,974 (GRCm39)	missense	possibly damaging	0.61
R3979:Spata31d1c	UTSW	13	65,182,974 (GRCm39)	missense	possibly damaging	0.61
R3980:Spata31d1c	UTSW	13	65,182,974 (GRCm39)	missense	possibly damaging	0.61
R3981:Spata31d1c	UTSW	13	65,182,925 (GRCm39)	missense	possibly damaging	0.68
R4014:Spata31d1c	UTSW	13	65,183,213 (GRCm39)	missense	probably damaging	0.99
R4255:Spata31d1c	UTSW	13	65,183,531 (GRCm39)	missense	probably benign	0.04
R4255:Spata31d1c	UTSW	13	65,183,502 (GRCm39)	nonsense	probably null
R4592:Spata31d1c	UTSW	13	65,183,874 (GRCm39)	missense	probably damaging	0.99
R4597:Spata31d1c	UTSW	13	65,183,427 (GRCm39)	nonsense	probably null
R4624:Spata31d1c	UTSW	13	65,184,411 (GRCm39)	missense	probably benign
R4641:Spata31d1c	UTSW	13	65,182,862 (GRCm39)	missense	probably benign	0.01
R4863:Spata31d1c	UTSW	13	65,183,604 (GRCm39)	nonsense	probably null
R5084:Spata31d1c	UTSW	13	65,182,944 (GRCm39)	missense	probably damaging	0.98
R5152:Spata31d1c	UTSW	13	65,183,409 (GRCm39)	missense	probably damaging	1.00
R5230:Spata31d1c	UTSW	13	65,183,248 (GRCm39)	missense	probably benign	0.41
R5267:Spata31d1c	UTSW	13	65,183,718 (GRCm39)	missense	probably damaging	0.98
R5615:Spata31d1c	UTSW	13	65,183,078 (GRCm39)	missense	possibly damaging	0.61
R5755:Spata31d1c	UTSW	13	65,184,341 (GRCm39)	missense	probably benign	0.12
R5935:Spata31d1c	UTSW	13	65,184,894 (GRCm39)	missense	possibly damaging	0.68
R6017:Spata31d1c	UTSW	13	65,182,893 (GRCm39)	missense	possibly damaging	0.91
R6131:Spata31d1c	UTSW	13	65,183,485 (GRCm39)	missense	probably benign	0.10
R6359:Spata31d1c	UTSW	13	65,183,406 (GRCm39)	missense	possibly damaging	0.63
R6723:Spata31d1c	UTSW	13	65,183,758 (GRCm39)	missense	probably benign	0.01
R7028:Spata31d1c	UTSW	13	65,183,877 (GRCm39)	missense	probably damaging	0.98
R7336:Spata31d1c	UTSW	13	65,183,942 (GRCm39)	missense	probably damaging	0.99
R7426:Spata31d1c	UTSW	13	65,183,175 (GRCm39)	missense	probably benign
R7552:Spata31d1c	UTSW	13	65,183,937 (GRCm39)	missense	probably damaging	0.98
R7605:Spata31d1c	UTSW	13	65,183,654 (GRCm39)	missense	probably benign	0.00
R7666:Spata31d1c	UTSW	13	65,183,814 (GRCm39)	missense	probably benign	0.01
R8403:Spata31d1c	UTSW	13	65,184,044 (GRCm39)	missense	probably benign	0.42
R8445:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8513:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8515:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8523:Spata31d1c	UTSW	13	65,180,991 (GRCm39)	missense	probably damaging	0.98
R8799:Spata31d1c	UTSW	13	65,184,140 (GRCm39)	missense	possibly damaging	0.92
R8817:Spata31d1c	UTSW	13	65,182,376 (GRCm39)	missense	probably damaging	0.98
R8854:Spata31d1c	UTSW	13	65,183,804 (GRCm39)	missense	possibly damaging	0.82
R8917:Spata31d1c	UTSW	13	65,183,429 (GRCm39)	missense	probably benign	0.02
R9084:Spata31d1c	UTSW	13	65,182,959 (GRCm39)	missense	probably benign
R9197:Spata31d1c	UTSW	13	65,183,690 (GRCm39)	missense	probably benign	0.01
R9201:Spata31d1c	UTSW	13	65,184,773 (GRCm39)	missense	possibly damaging	0.48
R9261:Spata31d1c	UTSW	13	65,184,680 (GRCm39)	missense	probably damaging	0.99
R9516:Spata31d1c	UTSW	13	65,184,040 (GRCm39)	missense	probably damaging	1.00
X0022:Spata31d1c	UTSW	13	65,184,741 (GRCm39)	missense	probably benign	0.35

Posted On

2015-12-18