Mutagenetix > Incidental Mutation

Incidental Mutation 'R1347:Spata31d1c'

156542

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

MMRRC Submission

039412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65180872-65185816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65183202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 248 (T248I)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

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

AlphaFold

E9QAF1

Predicted Effect

probably benign
Transcript: ENSMUST00000099427
AA Change: T248I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: T248I

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: 98.2%
3x: 96.4%
10x: 88.6%
20x: 71.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Arpc1a	G	T	5: 145,034,082 (GRCm39)	W150L	probably damaging	Het
Filip1l	A	G	16: 57,391,350 (GRCm39)	D646G	probably damaging	Het
Foxa1	A	T	12: 57,589,070 (GRCm39)	H383Q	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,011 (GRCm39)	T117A	probably benign	Het
Fry	A	T	5: 150,419,283 (GRCm39)	E905V	probably damaging	Het
Glyr1	T	C	16: 4,839,203 (GRCm39)	D338G	probably damaging	Het
Gpd2	A	T	2: 57,247,683 (GRCm39)	K542M	probably damaging	Het
Itpr3	T	C	17: 27,330,535 (GRCm39)	F1679L	probably benign	Het
Kif23	A	G	9: 61,834,438 (GRCm39)	M427T	probably damaging	Het
Kpna1	T	A	16: 35,829,696 (GRCm39)	I83N	probably benign	Het
Man2a1	T	C	17: 65,019,445 (GRCm39)	F770L	probably damaging	Het
Mrpl44	T	A	1: 79,755,669 (GRCm39)	F92I	probably damaging	Het
Or2a56	A	C	6: 42,932,639 (GRCm39)	D69A	probably damaging	Het
Or5b105	T	C	19: 13,080,054 (GRCm39)	I199V	probably benign	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Rims3	G	A	4: 120,740,322 (GRCm39)	G90S	probably damaging	Het
Rock2	G	A	12: 17,027,625 (GRCm39)	C1314Y	possibly damaging	Het
Serpinb6e	C	T	13: 34,025,180 (GRCm39)	C37Y	possibly damaging	Het
Tbx15	C	A	3: 99,259,427 (GRCm39)	Q433K	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Zim1	C	A	7: 6,680,430 (GRCm39)	C411F	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCATGTGAGCCTTCTCTACAGTC -3'
(R):5'- GCTCTCCAAAGAATGGGAAACTGCC -3'

Sequencing Primer
(F):5'- TTTCATCTCACCAAAGTGAGTACC -3'
(R):5'- TGTCTCAAGTAGTGCCACG -3'

Posted On

2014-02-11