Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Spata31d1c'

311283

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

MMRRC Submission

040843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65033058-65038004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65035160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

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

AlphaFold

E9QAF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099427
AA Change: D172G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: D172G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,582,943	G268R	probably damaging	Het
Amacr	T	A	15: 10,988,929	Y240*	probably null	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,187,220	C106F	probably damaging	Het
Bean1	A	T	8: 104,211,098	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,779,376	N41I	probably benign	Het
Ceacam16	A	G	7: 19,858,633	F117L	probably benign	Het
Col4a1	T	C	8: 11,239,155		probably benign	Het
Csk	A	G	9: 57,630,780	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,906,056	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,443	H399Q	probably benign	Het
Cutal	T	C	2: 34,882,313	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Defb30	C	A	14: 63,035,972	C64F	probably damaging	Het
Eif2a	T	C	3: 58,539,539	I45T	probably benign	Het
Esyt1	T	A	10: 128,511,524	D1044V	probably damaging	Het
Fam196b	G	A	11: 34,402,678	C240Y	probably benign	Het
Gabpb2	A	T	3: 95,188,770	V382E	probably damaging	Het
Glb1	T	A	9: 114,417,064	I61K	probably damaging	Het
Kcnt1	T	C	2: 25,893,214	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,619,670	D1019G	probably benign	Het
Klhl2	A	T	8: 64,743,075	L545M	probably damaging	Het
Klhl2	C	A	8: 64,743,081	G543C	probably damaging	Het
Krt31	G	T	11: 100,048,204	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,731,019	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,414,159	F859L	probably damaging	Het
Map7	C	A	10: 20,267,353	T416K	unknown	Het
Med18	T	A	4: 132,462,940	I45F	probably benign	Het
Mn1	A	T	5: 111,421,770	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,181,611	F469I	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Nrap	G	A	19: 56,381,552	A206V	probably benign	Het
Nuggc	T	C	14: 65,619,093		probably null	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr1335	T	A	4: 118,809,303	Y187F	probably benign	Het
Olfr559	T	C	7: 102,723,752	N246S	probably damaging	Het
Parp3	T	C	9: 106,474,068	D278G	probably damaging	Het
Phc3	T	A	3: 30,936,931	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,966,435	I66T	probably damaging	Het
Plch2	T	C	4: 154,984,798	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,373,183	C264F	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pou4f2	G	T	8: 78,435,438	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,061,457		probably benign	Het
Rapgef1	G	A	2: 29,719,650	V700I	probably benign	Het
Rdh14	A	G	12: 10,394,703	I185V	probably benign	Het
Rnf111	A	T	9: 70,442,325	H785Q	probably damaging	Het
Rttn	C	T	18: 89,017,275	R758W	probably benign	Het
Sik3	G	A	9: 46,202,063	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,178,486	T286A	probably benign	Het
Slc36a3	G	A	11: 55,135,383	T203I	probably benign	Het
Spata31	A	T	13: 64,922,654	Q872L	probably benign	Het
Sphkap	A	T	1: 83,267,494		probably null	Het
Stat6	T	C	10: 127,655,379	V463A	probably damaging	Het
Stx7	T	C	10: 24,185,049	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,473,409		probably benign	Het
Tada2a	A	T	11: 84,103,120	F179L	probably benign	Het
Tas2r103	A	G	6: 133,036,317	L262P	probably benign	Het
Tfap2d	A	G	1: 19,165,963	I382V	possibly damaging	Het
Tshr	C	A	12: 91,537,743	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,553,714	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,985,651	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,653,957		probably null	Het

Other mutations in Spata31d1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Spata31d1c	APN	13	65036089	missense	probably damaging	1.00
IGL02830:Spata31d1c	APN	13	65035366	missense	probably benign	0.25
IGL02947:Spata31d1c	APN	13	65034945	nonsense	probably null
IGL03133:Spata31d1c	APN	13	65034985	missense	probably benign	0.18
IGL03176:Spata31d1c	APN	13	65037011	missense	probably benign	0.01
IGL03183:Spata31d1c	APN	13	65035195	missense	possibly damaging	0.86
IGL03206:Spata31d1c	APN	13	65035593	missense	probably benign	0.41
PIT4382001:Spata31d1c	UTSW	13	65036171	missense	probably benign	0.01
R0054:Spata31d1c	UTSW	13	65033062	start gained	probably benign
R0959:Spata31d1c	UTSW	13	65036315	missense	probably damaging	1.00
R1232:Spata31d1c	UTSW	13	65036614	missense	probably benign
R1347:Spata31d1c	UTSW	13	65035388	missense	probably benign	0.00
R1381:Spata31d1c	UTSW	13	65036554	missense	probably benign	0.08
R1573:Spata31d1c	UTSW	13	65035069	missense	possibly damaging	0.92
R1582:Spata31d1c	UTSW	13	65033224	missense	probably benign
R1639:Spata31d1c	UTSW	13	65036039	missense	probably benign
R1716:Spata31d1c	UTSW	13	65033216	missense	possibly damaging	0.86
R1781:Spata31d1c	UTSW	13	65036171	missense	probably benign	0.01
R1907:Spata31d1c	UTSW	13	65035876	missense	probably benign	0.03
R2012:Spata31d1c	UTSW	13	65035227	missense	possibly damaging	0.91
R2152:Spata31d1c	UTSW	13	65033965	critical splice donor site	probably null
R2211:Spata31d1c	UTSW	13	65035939	missense	probably benign	0.04
R2571:Spata31d1c	UTSW	13	65036384	missense	probably damaging	1.00
R2908:Spata31d1c	UTSW	13	65033191	missense	possibly damaging	0.63
R3978:Spata31d1c	UTSW	13	65035160	missense	possibly damaging	0.61
R3979:Spata31d1c	UTSW	13	65035160	missense	possibly damaging	0.61
R3981:Spata31d1c	UTSW	13	65035111	missense	possibly damaging	0.68
R4014:Spata31d1c	UTSW	13	65035399	missense	probably damaging	0.99
R4255:Spata31d1c	UTSW	13	65035688	nonsense	probably null
R4255:Spata31d1c	UTSW	13	65035717	missense	probably benign	0.04
R4592:Spata31d1c	UTSW	13	65036060	missense	probably damaging	0.99
R4597:Spata31d1c	UTSW	13	65035613	nonsense	probably null
R4624:Spata31d1c	UTSW	13	65036597	missense	probably benign
R4641:Spata31d1c	UTSW	13	65035048	missense	probably benign	0.01
R4863:Spata31d1c	UTSW	13	65035790	nonsense	probably null
R5084:Spata31d1c	UTSW	13	65035130	missense	probably damaging	0.98
R5152:Spata31d1c	UTSW	13	65035595	missense	probably damaging	1.00
R5230:Spata31d1c	UTSW	13	65035434	missense	probably benign	0.41
R5267:Spata31d1c	UTSW	13	65035904	missense	probably damaging	0.98
R5615:Spata31d1c	UTSW	13	65035264	missense	possibly damaging	0.61
R5755:Spata31d1c	UTSW	13	65036527	missense	probably benign	0.12
R5935:Spata31d1c	UTSW	13	65037080	missense	possibly damaging	0.68
R6017:Spata31d1c	UTSW	13	65035079	missense	possibly damaging	0.91
R6131:Spata31d1c	UTSW	13	65035671	missense	probably benign	0.10
R6359:Spata31d1c	UTSW	13	65035592	missense	possibly damaging	0.63
R6723:Spata31d1c	UTSW	13	65035944	missense	probably benign	0.01
R7028:Spata31d1c	UTSW	13	65036063	missense	probably damaging	0.98
R7336:Spata31d1c	UTSW	13	65036128	missense	probably damaging	0.99
R7426:Spata31d1c	UTSW	13	65035361	missense	probably benign
R7552:Spata31d1c	UTSW	13	65036123	missense	probably damaging	0.98
R7605:Spata31d1c	UTSW	13	65035840	missense	probably benign	0.00
R7666:Spata31d1c	UTSW	13	65036000	missense	probably benign	0.01
R8403:Spata31d1c	UTSW	13	65036230	missense	probably benign	0.42
R8445:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8513:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8515:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8523:Spata31d1c	UTSW	13	65033177	missense	probably damaging	0.98
R8799:Spata31d1c	UTSW	13	65036326	missense	possibly damaging	0.92
R8817:Spata31d1c	UTSW	13	65034562	missense	probably damaging	0.98
R8854:Spata31d1c	UTSW	13	65035990	missense	possibly damaging	0.82
R8917:Spata31d1c	UTSW	13	65035615	missense	probably benign	0.02
R9084:Spata31d1c	UTSW	13	65035145	missense	probably benign
R9197:Spata31d1c	UTSW	13	65035876	missense	probably benign	0.01
R9201:Spata31d1c	UTSW	13	65036959	missense	possibly damaging	0.48
R9261:Spata31d1c	UTSW	13	65036866	missense	probably damaging	0.99
R9516:Spata31d1c	UTSW	13	65036226	missense	probably damaging	1.00
X0022:Spata31d1c	UTSW	13	65036927	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- CAGATCCCTACTGTGGTGTG -3'
(R):5'- GAAGCAGTTCTGTTTCCGGAG -3'

Sequencing Primer
(F):5'- GTGTGTAATGGAGCAACTGC -3'
(R):5'- CTGTTTCCGGAGTGACATATTG -3'

Posted On

2015-04-29