Mutagenetix > Incidental Mutation

Incidental Mutation 'R1232:Spata31d1c'

152327

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

MMRRC Submission

039301-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65033058-65038004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65036614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 657 (C657S)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

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

AlphaFold

E9QAF1

Predicted Effect

probably benign
Transcript: ENSMUST00000099427
AA Change: C657S

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

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: C657S

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

1x: 99.1%
3x: 98.0%
10x: 95.0%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,641,730	L751M	probably damaging	Het
Arhgap29	A	G	3: 122,003,340	D525G	probably damaging	Het
Ces2h	T	C	8: 105,014,655	M93T	probably benign	Het
Cyp4a12b	A	T	4: 115,432,563	D209V	possibly damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Fbxo38	A	G	18: 62,510,811	V925A	probably damaging	Het
Glp1r	A	C	17: 30,918,931	H112P	probably benign	Het
Gm8251	T	C	1: 44,056,592	Y1782C	possibly damaging	Het
Gtf3c5	A	G	2: 28,571,215	W296R	probably damaging	Het
Ints8	A	G	4: 11,234,587	I415T	possibly damaging	Het
Krt2	A	G	15: 101,811,784	S513P	probably damaging	Het
Loxhd1	G	A	18: 77,406,003		probably null	Het
Mfsd3	A	G	15: 76,703,182	Q355R	probably damaging	Het
Mms22l	C	T	4: 24,536,274	T621I	probably benign	Het
Olfr969	G	A	9: 39,795,968	V198I	probably benign	Het
Pcdhb8	A	G	18: 37,355,775	N169D	probably benign	Het
Rnls	T	G	19: 33,202,646	I135L	probably benign	Het
Sgsm1	G	T	5: 113,273,711	C558*	probably null	Het
Vmn2r15	T	C	5: 109,293,302	D230G	probably benign	Het
Zfp429	T	C	13: 67,390,632	Y231C	possibly damaging	Het

Other mutations in Spata31d1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Spata31d1c	APN	13	65,036,089 (GRCm38)	missense	probably damaging	1.00
IGL02830:Spata31d1c	APN	13	65,035,366 (GRCm38)	missense	probably benign	0.25
IGL02947:Spata31d1c	APN	13	65,034,945 (GRCm38)	nonsense	probably null
IGL03133:Spata31d1c	APN	13	65,034,985 (GRCm38)	missense	probably benign	0.18
IGL03176:Spata31d1c	APN	13	65,037,011 (GRCm38)	missense	probably benign	0.01
IGL03183:Spata31d1c	APN	13	65,035,195 (GRCm38)	missense	possibly damaging	0.86
IGL03206:Spata31d1c	APN	13	65,035,593 (GRCm38)	missense	probably benign	0.41
PIT4382001:Spata31d1c	UTSW	13	65,036,171 (GRCm38)	missense	probably benign	0.01
R0054:Spata31d1c	UTSW	13	65,033,062 (GRCm38)	start gained	probably benign
R0959:Spata31d1c	UTSW	13	65,036,315 (GRCm38)	missense	probably damaging	1.00
R1347:Spata31d1c	UTSW	13	65,035,388 (GRCm38)	missense	probably benign	0.00
R1381:Spata31d1c	UTSW	13	65,036,554 (GRCm38)	missense	probably benign	0.08
R1573:Spata31d1c	UTSW	13	65,035,069 (GRCm38)	missense	possibly damaging	0.92
R1582:Spata31d1c	UTSW	13	65,033,224 (GRCm38)	missense	probably benign
R1639:Spata31d1c	UTSW	13	65,036,039 (GRCm38)	missense	probably benign
R1716:Spata31d1c	UTSW	13	65,033,216 (GRCm38)	missense	possibly damaging	0.86
R1781:Spata31d1c	UTSW	13	65,036,171 (GRCm38)	missense	probably benign	0.01
R1907:Spata31d1c	UTSW	13	65,035,876 (GRCm38)	missense	probably benign	0.03
R2012:Spata31d1c	UTSW	13	65,035,227 (GRCm38)	missense	possibly damaging	0.91
R2152:Spata31d1c	UTSW	13	65,033,965 (GRCm38)	critical splice donor site	probably null
R2211:Spata31d1c	UTSW	13	65,035,939 (GRCm38)	missense	probably benign	0.04
R2571:Spata31d1c	UTSW	13	65,036,384 (GRCm38)	missense	probably damaging	1.00
R2908:Spata31d1c	UTSW	13	65,033,191 (GRCm38)	missense	possibly damaging	0.63
R3978:Spata31d1c	UTSW	13	65,035,160 (GRCm38)	missense	possibly damaging	0.61
R3979:Spata31d1c	UTSW	13	65,035,160 (GRCm38)	missense	possibly damaging	0.61
R3980:Spata31d1c	UTSW	13	65,035,160 (GRCm38)	missense	possibly damaging	0.61
R3981:Spata31d1c	UTSW	13	65,035,111 (GRCm38)	missense	possibly damaging	0.68
R4014:Spata31d1c	UTSW	13	65,035,399 (GRCm38)	missense	probably damaging	0.99
R4255:Spata31d1c	UTSW	13	65,035,717 (GRCm38)	missense	probably benign	0.04
R4255:Spata31d1c	UTSW	13	65,035,688 (GRCm38)	nonsense	probably null
R4592:Spata31d1c	UTSW	13	65,036,060 (GRCm38)	missense	probably damaging	0.99
R4597:Spata31d1c	UTSW	13	65,035,613 (GRCm38)	nonsense	probably null
R4624:Spata31d1c	UTSW	13	65,036,597 (GRCm38)	missense	probably benign
R4641:Spata31d1c	UTSW	13	65,035,048 (GRCm38)	missense	probably benign	0.01
R4863:Spata31d1c	UTSW	13	65,035,790 (GRCm38)	nonsense	probably null
R5084:Spata31d1c	UTSW	13	65,035,130 (GRCm38)	missense	probably damaging	0.98
R5152:Spata31d1c	UTSW	13	65,035,595 (GRCm38)	missense	probably damaging	1.00
R5230:Spata31d1c	UTSW	13	65,035,434 (GRCm38)	missense	probably benign	0.41
R5267:Spata31d1c	UTSW	13	65,035,904 (GRCm38)	missense	probably damaging	0.98
R5615:Spata31d1c	UTSW	13	65,035,264 (GRCm38)	missense	possibly damaging	0.61
R5755:Spata31d1c	UTSW	13	65,036,527 (GRCm38)	missense	probably benign	0.12
R5935:Spata31d1c	UTSW	13	65,037,080 (GRCm38)	missense	possibly damaging	0.68
R6017:Spata31d1c	UTSW	13	65,035,079 (GRCm38)	missense	possibly damaging	0.91
R6131:Spata31d1c	UTSW	13	65,035,671 (GRCm38)	missense	probably benign	0.10
R6359:Spata31d1c	UTSW	13	65,035,592 (GRCm38)	missense	possibly damaging	0.63
R6723:Spata31d1c	UTSW	13	65,035,944 (GRCm38)	missense	probably benign	0.01
R7028:Spata31d1c	UTSW	13	65,036,063 (GRCm38)	missense	probably damaging	0.98
R7336:Spata31d1c	UTSW	13	65,036,128 (GRCm38)	missense	probably damaging	0.99
R7426:Spata31d1c	UTSW	13	65,035,361 (GRCm38)	missense	probably benign
R7552:Spata31d1c	UTSW	13	65,036,123 (GRCm38)	missense	probably damaging	0.98
R7605:Spata31d1c	UTSW	13	65,035,840 (GRCm38)	missense	probably benign	0.00
R7666:Spata31d1c	UTSW	13	65,036,000 (GRCm38)	missense	probably benign	0.01
R8403:Spata31d1c	UTSW	13	65,036,230 (GRCm38)	missense	probably benign	0.42
R8445:Spata31d1c	UTSW	13	65,033,177 (GRCm38)	missense	probably damaging	0.98
R8513:Spata31d1c	UTSW	13	65,033,177 (GRCm38)	missense	probably damaging	0.98
R8515:Spata31d1c	UTSW	13	65,033,177 (GRCm38)	missense	probably damaging	0.98
R8523:Spata31d1c	UTSW	13	65,033,177 (GRCm38)	missense	probably damaging	0.98
R8799:Spata31d1c	UTSW	13	65,036,326 (GRCm38)	missense	possibly damaging	0.92
R8817:Spata31d1c	UTSW	13	65,034,562 (GRCm38)	missense	probably damaging	0.98
R8854:Spata31d1c	UTSW	13	65,035,990 (GRCm38)	missense	possibly damaging	0.82
R8917:Spata31d1c	UTSW	13	65,035,615 (GRCm38)	missense	probably benign	0.02
R9084:Spata31d1c	UTSW	13	65,035,145 (GRCm38)	missense	probably benign
R9197:Spata31d1c	UTSW	13	65,035,876 (GRCm38)	missense	probably benign	0.01
R9201:Spata31d1c	UTSW	13	65,036,959 (GRCm38)	missense	possibly damaging	0.48
R9261:Spata31d1c	UTSW	13	65,036,866 (GRCm38)	missense	probably damaging	0.99
R9516:Spata31d1c	UTSW	13	65,036,226 (GRCm38)	missense	probably damaging	1.00
X0022:Spata31d1c	UTSW	13	65,036,927 (GRCm38)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TCAGGCAGAACTTCCAGAGTCACC -3'
(R):5'- CACATCTGAGCTGTGTCTATTGCCC -3'

Sequencing Primer
(F):5'- TTCCAGAGTCACCCTCAGC -3'
(R):5'- GCTAGTGATCTGACGCTCAATG -3'

Posted On

2014-01-29