Mutagenetix > Incidental Mutation

Incidental Mutation 'R4641:Spata31d1c'

351657

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1c

Ensembl Gene

ENSMUSG00000074849

Gene Name

spermatogenesis associated 31 subfamily D, member 1C

Synonyms

4932441B19Rik, Fam75d1c

MMRRC Submission

041903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65180872-65185816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65182862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 135 (Q135K)

Ref Sequence

ENSEMBL: ENSMUSP00000097024 (fasta)

Gene Model

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

AlphaFold

E9QAF1

Predicted Effect

probably benign
Transcript: ENSMUST00000099427
AA Change: Q135K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: Q135K

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	A	10: 79,841,615 (GRCm39)		probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Dsg3	T	A	18: 20,653,615 (GRCm39)	F54I	probably benign	Het
Ehbp1	G	A	11: 22,045,892 (GRCm39)	S619L	probably benign	Het
Eif1ad3	A	G	12: 87,843,446 (GRCm39)	Y31C	probably damaging	Het
Eif1ad5	A	G	12: 87,946,852 (GRCm39)	D98G	probably benign	Het
Erlec1	G	A	11: 30,898,442 (GRCm39)	Q10*	probably null	Het
Fbxw14	A	G	9: 109,107,750 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,056,224 (GRCm39)	R1163H	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm4846	G	A	1: 166,311,462 (GRCm39)	P466S	probably damaging	Het
Ift122	A	T	6: 115,865,726 (GRCm39)	K339*	probably null	Het
Il6st	T	C	13: 112,625,064 (GRCm39)	S227P	probably damaging	Het
Letmd1	A	G	15: 100,375,708 (GRCm39)	Y198C	probably damaging	Het
Map3k4	A	T	17: 12,482,932 (GRCm39)	L595Q	probably damaging	Het
Mdc1	C	G	17: 36,168,361 (GRCm39)	R1656G	probably benign	Het
Megf11	C	T	9: 64,597,407 (GRCm39)	S662L	possibly damaging	Het
Mrps25	T	C	6: 92,160,881 (GRCm39)	E25G	probably benign	Het
Myh2	G	T	11: 67,085,520 (GRCm39)	G1815C	probably damaging	Het
Myo15a	A	G	11: 60,393,867 (GRCm39)	D2353G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
P2rx5	A	T	11: 73,058,390 (GRCm39)	H275L	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Rnf123	T	C	9: 107,935,786 (GRCm39)	D920G	probably damaging	Het
Slc44a2	A	G	9: 21,258,178 (GRCm39)	Y474C	probably damaging	Het
Slc9a4	T	A	1: 40,646,285 (GRCm39)	F439I	probably damaging	Het
Snap91	A	G	9: 86,761,528 (GRCm39)	V26A	probably damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 98,110,114 (GRCm39)		probably benign	Het
Tlk2	T	C	11: 105,166,809 (GRCm39)	I669T	probably benign	Het
Tmem273	A	G	14: 32,528,839 (GRCm39)	D68G	probably damaging	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Ttn	T	A	2: 76,617,155 (GRCm39)	Y16403F	probably damaging	Het
Ttyh2	G	T	11: 114,592,609 (GRCm39)	W213L	probably damaging	Het
Ugt2a2	A	T	5: 87,610,755 (GRCm39)	D360E	probably damaging	Het
Vwa5b2	A	T	16: 20,423,393 (GRCm39)	H1102L	probably damaging	Het
Zbtb41	A	T	1: 139,370,557 (GRCm39)	T665S	probably damaging	Het
Zfp292	T	C	4: 34,807,828 (GRCm39)	I1739V	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
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
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'- CAGGCAGGCCCTTTTCAATTC -3'
(R):5'- TAGTAGAGAGCCACCCAGTG -3'

Sequencing Primer
(F):5'- GCAGGCCCTTTTCAATTCTGGTC -3'
(R):5'- GAAAGTGTGTCTTCTAGGTACTCAC -3'

Posted On

2015-10-08