Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Spata31d1d'

199739

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1d

Ensembl Gene

ENSMUSG00000043986

Gene Name

spermatogenesis associated 31 subfamily D, member 1D

Synonyms

4932411G14Rik, Fam75d1d

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59873739-59879566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59874311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1075 (G1075R)

Ref Sequence

ENSEMBL: ENSMUSP00000128200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052978]

AlphaFold

E9Q5W2

Predicted Effect

probably benign
Transcript: ENSMUST00000052978
AA Change: G1075R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: G1075R

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:DUF4599	70	155	5.4e-28	PFAM
low complexity region	228	238	N/A	INTRINSIC
low complexity region	284	298	N/A	INTRINSIC
Pfam:FAM75	383	733	2.6e-93	PFAM
low complexity region	1017	1030	N/A	INTRINSIC
low complexity region	1111	1129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224724

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	probably benign	Het

Other mutations in Spata31d1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Spata31d1d	APN	13	59,878,029 (GRCm39)	splice site	probably benign
IGL02399:Spata31d1d	APN	13	59,877,954 (GRCm39)	splice site	probably benign
IGL02531:Spata31d1d	APN	13	59,875,748 (GRCm39)	missense	possibly damaging	0.86
IGL02687:Spata31d1d	APN	13	59,875,678 (GRCm39)	missense	possibly damaging	0.71
IGL02815:Spata31d1d	APN	13	59,874,678 (GRCm39)	missense	possibly damaging	0.72
IGL02893:Spata31d1d	APN	13	59,873,793 (GRCm39)	missense	possibly damaging	0.72
IGL03037:Spata31d1d	APN	13	59,873,947 (GRCm39)	missense	possibly damaging	0.86
IGL02796:Spata31d1d	UTSW	13	59,876,057 (GRCm39)	missense	possibly damaging	0.93
R0612:Spata31d1d	UTSW	13	59,875,787 (GRCm39)	missense	probably benign	0.06
R1345:Spata31d1d	UTSW	13	59,873,838 (GRCm39)	missense	possibly damaging	0.72
R1572:Spata31d1d	UTSW	13	59,876,005 (GRCm39)	missense	probably benign	0.01
R1750:Spata31d1d	UTSW	13	59,876,509 (GRCm39)	missense	probably benign	0.33
R1894:Spata31d1d	UTSW	13	59,875,936 (GRCm39)	missense	probably benign	0.09
R2202:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2203:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2204:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2913:Spata31d1d	UTSW	13	59,874,769 (GRCm39)	missense	possibly damaging	0.72
R3942:Spata31d1d	UTSW	13	59,875,276 (GRCm39)	missense	probably benign	0.18
R4513:Spata31d1d	UTSW	13	59,876,368 (GRCm39)	missense	probably benign	0.32
R4824:Spata31d1d	UTSW	13	59,877,055 (GRCm39)	missense	possibly damaging	0.86
R4959:Spata31d1d	UTSW	13	59,875,102 (GRCm39)	missense	probably damaging	1.00
R4970:Spata31d1d	UTSW	13	59,875,334 (GRCm39)	missense	probably benign	0.33
R5406:Spata31d1d	UTSW	13	59,876,592 (GRCm39)	missense	probably benign	0.33
R5618:Spata31d1d	UTSW	13	59,874,214 (GRCm39)	missense	probably benign	0.01
R5688:Spata31d1d	UTSW	13	59,874,322 (GRCm39)	missense	probably damaging	0.98
R5741:Spata31d1d	UTSW	13	59,876,500 (GRCm39)	missense	possibly damaging	0.86
R5867:Spata31d1d	UTSW	13	59,875,054 (GRCm39)	missense	possibly damaging	0.53
R5930:Spata31d1d	UTSW	13	59,874,829 (GRCm39)	missense	probably benign
R6263:Spata31d1d	UTSW	13	59,873,797 (GRCm39)	missense	probably benign	0.18
R6267:Spata31d1d	UTSW	13	59,876,278 (GRCm39)	missense	possibly damaging	0.93
R6296:Spata31d1d	UTSW	13	59,876,278 (GRCm39)	missense	possibly damaging	0.93
R6597:Spata31d1d	UTSW	13	59,873,871 (GRCm39)	missense	probably benign	0.01
R6985:Spata31d1d	UTSW	13	59,879,429 (GRCm39)	missense	probably benign	0.00
R7032:Spata31d1d	UTSW	13	59,876,046 (GRCm39)	missense	probably benign
R7174:Spata31d1d	UTSW	13	59,876,394 (GRCm39)	missense	possibly damaging	0.72
R7322:Spata31d1d	UTSW	13	59,874,790 (GRCm39)	missense	probably benign
R7444:Spata31d1d	UTSW	13	59,875,007 (GRCm39)	missense	probably benign	0.33
R7946:Spata31d1d	UTSW	13	59,878,606 (GRCm39)	missense	probably benign	0.02
R8206:Spata31d1d	UTSW	13	59,879,344 (GRCm39)	missense	probably benign	0.03
R8912:Spata31d1d	UTSW	13	59,875,136 (GRCm39)	missense	possibly damaging	0.53
R8995:Spata31d1d	UTSW	13	59,874,421 (GRCm39)	missense	probably benign	0.33
R9215:Spata31d1d	UTSW	13	59,875,823 (GRCm39)	missense	probably benign	0.32
R9800:Spata31d1d	UTSW	13	59,874,637 (GRCm39)	missense	possibly damaging	0.53
Z1176:Spata31d1d	UTSW	13	59,873,981 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ACTGGGTCTGTTGGGACGCAATAC -3'
(R):5'- GTCTGAACAAGGACAGCCCTCAATC -3'

Sequencing Primer
(F):5'- GGGACGCAATACTCTCTCTTCG -3'
(R):5'- TCAATCTGCCAAGAGGTCGTG -3'

Posted On

2014-05-23