Mutagenetix > Incidental Mutation

Incidental Mutation 'R2204:Spata31d1d'

238928

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1d

Ensembl Gene

ENSMUSG00000043986

Gene Name

spermatogenesis associated 31 subfamily D, member 1D

Synonyms

MMRRC Submission

040206-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2204 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59725925-59731752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59731621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 34 (C34R)

Ref Sequence

ENSEMBL: ENSMUSP00000128200 (fasta)

Gene Model

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

AlphaFold

E9Q5W2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052978
AA Change: C34R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: C34R

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: ENSMUST00000181528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225577

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	C	T	3: 108,475,043	G270E	probably damaging	Het
A630076J17Rik	A	G	3: 107,233,627		probably benign	Het
Abca1	G	A	4: 53,090,291	T386I	probably damaging	Het
Acsf3	C	T	8: 122,813,644	S527F	probably damaging	Het
Adamts7	A	T	9: 90,180,676	K394N	probably damaging	Het
Ankrd2	C	A	19: 42,044,119	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,523,882	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,767,015	Q138P	probably benign	Het
Bap1	T	C	14: 31,256,701	V23A	probably benign	Het
C87499	A	T	4: 88,628,118	L329Q	probably damaging	Het
Cartpt	A	T	13: 99,900,625	S4T	probably benign	Het
Cdan1	C	A	2: 120,720,760	C1093F	probably damaging	Het
Ceacam11	C	T	7: 17,975,348	T157I	possibly damaging	Het
Cfap45	T	C	1: 172,532,161	V76A	probably benign	Het
Chil3	T	C	3: 106,164,246	D34G	probably benign	Het
Chrnb4	G	A	9: 55,043,848	R44C	probably damaging	Het
Col6a4	T	C	9: 106,060,132	D1395G	probably damaging	Het
Cpa1	A	G	6: 30,641,819	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,694	D976A	probably benign	Het
Espl1	A	G	15: 102,305,905	E693G	probably damaging	Het
Fat1	G	T	8: 45,023,700	A1928S	probably damaging	Het
Fiz1	C	T	7: 5,008,686	E278K	probably benign	Het
Flnc	C	T	6: 29,459,508	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,493,729	D241E	probably benign	Het
Hlcs	T	C	16: 94,231,152	T451A	probably benign	Het
Hmgcr	A	G	13: 96,656,633	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,291,183	I134N	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,341	E239K	probably benign	Het
Ift52	G	A	2: 163,031,230	S221N	probably benign	Het
Knstrn	T	A	2: 118,830,975		probably null	Het
Map3k14	T	A	11: 103,239,454	K212N	possibly damaging	Het
Ndufb7	A	G	8: 83,570,899	H61R	probably damaging	Het
Nop56	T	A	2: 130,277,568	I51N	probably damaging	Het
Nudt5	A	T	2: 5,855,983	I22F	possibly damaging	Het
Olfr1198	C	G	2: 88,746,609	G93A	probably benign	Het
Olfr418	T	A	1: 173,270,136		probably null	Het
Olfr867	T	C	9: 20,055,211	N84S	possibly damaging	Het
P3h4	G	A	11: 100,414,006	A185V	probably benign	Het
Pdcl	A	T	2: 37,352,044	N231K	probably benign	Het
Plcb4	T	C	2: 136,002,594	I144T	probably benign	Het
Prrc2b	C	A	2: 32,223,464	Q1970K	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sars2	T	C	7: 28,749,674	V302A	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Speg	A	T	1: 75,430,477	T3137S	probably benign	Het
Ssh3	A	G	19: 4,269,073	L3P	probably damaging	Het
Stard9	GAAA	GAA	2: 120,698,531		probably null	Het
Stoml2	G	T	4: 43,030,243	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843	L531P	possibly damaging	Het
Taco1	C	T	11: 106,071,934	A149V	probably benign	Het
Tenm3	T	C	8: 48,674,550	E31G	probably benign	Het
Tmc1	A	T	19: 20,940,905	L2M	probably benign	Het
Tmem39b	A	C	4: 129,693,923	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,190,638	D198G	possibly damaging	Het
Trabd2b	T	C	4: 114,602,994	L443P	probably damaging	Het
Trip4	T	A	9: 65,864,265	I328F	probably damaging	Het
Trpc3	A	G	3: 36,650,149	F553S	possibly damaging	Het
Tssk2	A	G	16: 17,898,739	D2G	possibly damaging	Het
Ttn	T	C	2: 76,771,641	N18559S	possibly damaging	Het
Vmn1r23	T	C	6: 57,926,619	D58G	probably benign	Het
Zfp651	A	G	9: 121,762,637	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,183,446	A139D	probably damaging	Het

Other mutations in Spata31d1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Spata31d1d	APN	13	59730215	splice site	probably benign
IGL02399:Spata31d1d	APN	13	59730140	splice site	probably benign
IGL02531:Spata31d1d	APN	13	59727934	missense	possibly damaging	0.86
IGL02687:Spata31d1d	APN	13	59727864	missense	possibly damaging	0.71
IGL02815:Spata31d1d	APN	13	59726864	missense	possibly damaging	0.72
IGL02893:Spata31d1d	APN	13	59725979	missense	possibly damaging	0.72
IGL03037:Spata31d1d	APN	13	59726133	missense	possibly damaging	0.86
IGL02796:Spata31d1d	UTSW	13	59728243	missense	possibly damaging	0.93
R0612:Spata31d1d	UTSW	13	59727973	missense	probably benign	0.06
R1345:Spata31d1d	UTSW	13	59726024	missense	possibly damaging	0.72
R1572:Spata31d1d	UTSW	13	59728191	missense	probably benign	0.01
R1736:Spata31d1d	UTSW	13	59726497	missense	probably benign	0.02
R1750:Spata31d1d	UTSW	13	59728695	missense	probably benign	0.33
R1894:Spata31d1d	UTSW	13	59728122	missense	probably benign	0.09
R2202:Spata31d1d	UTSW	13	59731621	missense	possibly damaging	0.82
R2203:Spata31d1d	UTSW	13	59731621	missense	possibly damaging	0.82
R2913:Spata31d1d	UTSW	13	59726955	missense	possibly damaging	0.72
R3942:Spata31d1d	UTSW	13	59727462	missense	probably benign	0.18
R4513:Spata31d1d	UTSW	13	59728554	missense	probably benign	0.32
R4824:Spata31d1d	UTSW	13	59729241	missense	possibly damaging	0.86
R4959:Spata31d1d	UTSW	13	59727288	missense	probably damaging	1.00
R4970:Spata31d1d	UTSW	13	59727520	missense	probably benign	0.33
R5406:Spata31d1d	UTSW	13	59728778	missense	probably benign	0.33
R5618:Spata31d1d	UTSW	13	59726400	missense	probably benign	0.01
R5688:Spata31d1d	UTSW	13	59726508	missense	probably damaging	0.98
R5741:Spata31d1d	UTSW	13	59728686	missense	possibly damaging	0.86
R5867:Spata31d1d	UTSW	13	59727240	missense	possibly damaging	0.53
R5930:Spata31d1d	UTSW	13	59727015	missense	probably benign
R6263:Spata31d1d	UTSW	13	59725983	missense	probably benign	0.18
R6267:Spata31d1d	UTSW	13	59728464	missense	possibly damaging	0.93
R6296:Spata31d1d	UTSW	13	59728464	missense	possibly damaging	0.93
R6597:Spata31d1d	UTSW	13	59726057	missense	probably benign	0.01
R6985:Spata31d1d	UTSW	13	59731615	missense	probably benign	0.00
R7032:Spata31d1d	UTSW	13	59728232	missense	probably benign
R7174:Spata31d1d	UTSW	13	59728580	missense	possibly damaging	0.72
R7322:Spata31d1d	UTSW	13	59726976	missense	probably benign
R7444:Spata31d1d	UTSW	13	59727193	missense	probably benign	0.33
R7946:Spata31d1d	UTSW	13	59730792	missense	probably benign	0.02
R8206:Spata31d1d	UTSW	13	59731530	missense	probably benign	0.03
R8912:Spata31d1d	UTSW	13	59727322	missense	possibly damaging	0.53
R8995:Spata31d1d	UTSW	13	59726607	missense	probably benign	0.33
R9215:Spata31d1d	UTSW	13	59728009	missense	probably benign	0.32
R9800:Spata31d1d	UTSW	13	59726823	missense	possibly damaging	0.53
Z1176:Spata31d1d	UTSW	13	59726167	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CCTCTCCACAGTATCGTAACAG -3'
(R):5'- TTCCCTGCTCTGTGATGCAG -3'

Sequencing Primer
(F):5'- AGTATCGTAACAGCTCAGGTAC -3'
(R):5'- AGGCCTGCCCACTTACAG -3'

Posted On

2014-10-02