Mutagenetix > Incidental Mutation

Incidental Mutation 'R8513:Spata31d1c'

655994

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

MMRRC Submission

067889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65180872-65185816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65180991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 30 (S30I)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

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

AlphaFold

E9QAF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099427
AA Change: S30I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: S30I

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoe	C	A	7: 19,430,565 (GRCm39)	G226W	probably damaging	Het
Armc9	T	C	1: 86,090,405 (GRCm39)	F67L	probably damaging	Het
Bsn	T	C	9: 107,991,709 (GRCm39)	I1348V	possibly damaging	Het
Cdc73	C	A	1: 143,493,129 (GRCm39)	E402*	probably null	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117 (GRCm39)		probably null	Het
Cpt2	G	A	4: 107,764,123 (GRCm39)	A547V	probably damaging	Het
Cpxm2	A	T	7: 131,745,431 (GRCm39)	H131Q	probably benign	Het
Ctdp1	G	A	18: 80,492,678 (GRCm39)	L606F	possibly damaging	Het
Dot1l	T	C	10: 80,627,260 (GRCm39)	S1494P	possibly damaging	Het
Evpl	C	T	11: 116,120,570 (GRCm39)		probably null	Het
Fgd3	T	C	13: 49,417,400 (GRCm39)	T688A	probably benign	Het
Galnt3	A	T	2: 65,924,064 (GRCm39)	C401*	probably null	Het
Gml2	C	G	15: 74,696,004 (GRCm39)	P133A	probably damaging	Het
Hepacam	A	G	9: 37,291,930 (GRCm39)	E86G	probably benign	Het
Ilf3	A	G	9: 21,299,932 (GRCm39)	E39G	possibly damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Kiz	A	G	2: 146,712,684 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,227,370 (GRCm39)	L147H	probably damaging	Het
Naa15	T	A	3: 51,367,444 (GRCm39)	V539E	probably damaging	Het
Nlrp6	A	C	7: 140,502,743 (GRCm39)	D283A	possibly damaging	Het
Ntf5	A	G	7: 45,065,179 (GRCm39)	T104A	probably damaging	Het
Or1e28-ps1	A	G	11: 73,615,148 (GRCm39)	V234A	unknown	Het
Pacsin3	A	C	2: 91,093,150 (GRCm39)	N214T	probably benign	Het
Pcdha6	T	C	18: 37,102,229 (GRCm39)	I474T	probably damaging	Het
Pcdhgb1	A	G	18: 37,813,581 (GRCm39)	Y24C	probably damaging	Het
Pde2a	A	T	7: 101,158,972 (GRCm39)	N749Y	probably damaging	Het
Ptpn3	G	A	4: 57,270,085 (GRCm39)	R26*	probably null	Het
Rab7	T	C	6: 87,981,250 (GRCm39)	Y144C	probably benign	Het
Ralgps1	T	C	2: 33,226,626 (GRCm39)	S22G	probably damaging	Het
Setdb2	G	A	14: 59,639,839 (GRCm39)	T668M	probably damaging	Het
Slit2	T	A	5: 48,382,050 (GRCm39)	C510*	probably null	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata2l	T	C	8: 123,960,438 (GRCm39)	M284V	probably benign	Het
Stab1	C	A	14: 30,871,747 (GRCm39)		probably null	Het
Tmem184b	A	T	15: 79,254,123 (GRCm39)	S142T	probably benign	Het
Tmem201	A	T	4: 149,812,380 (GRCm39)	M312K	probably damaging	Het
Tpp1	A	T	7: 105,398,786 (GRCm39)	D214E	possibly damaging	Het
Trav7-2	C	T	14: 53,628,478 (GRCm39)	S72F	probably damaging	Het
Vmn1r37	A	G	6: 66,708,820 (GRCm39)	T149A	probably benign	Het
Zfp512	T	C	5: 31,637,425 (GRCm39)	S505P	probably damaging	Het
Zfp942	T	C	17: 22,147,282 (GRCm39)	D449G	probably benign	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
IGL02830:Spata31d1c	APN	13	65,183,180 (GRCm39)	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTTGCTCTGTGATGCAG -3'
(R):5'- ATGCCCTAGGACAGCAATG -3'

Sequencing Primer
(F):5'- TGATGCAGACCTAGGCCTACAG -3'
(R):5'- TCATGTTTCTGAGACAGACAGGC -3'

Posted On

2020-10-20