Mutagenetix > Incidental Mutation

Incidental Mutation 'R2203:Spata31d1d'

238854

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1d

Ensembl Gene

ENSMUSG00000043986

Gene Name

spermatogenesis associated 31 subfamily D, member 1D

Synonyms

4932411G14Rik, Fam75d1d

MMRRC Submission

040205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2203 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59873739-59879566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59879435 bp (GRCm39)

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: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abcc5	C	G	16: 20,224,632 (GRCm39)	L44F	possibly damaging	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Brca2	T	A	5: 150,462,967 (GRCm39)	D910E	possibly damaging	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Ccdc66	T	A	14: 27,208,790 (GRCm39)	D488V	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Clptm1	G	T	7: 19,367,817 (GRCm39)	F598L	possibly damaging	Het
Cntrl	G	A	2: 35,033,749 (GRCm39)	V257I	possibly damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Crebbp	A	C	16: 3,956,641 (GRCm39)	M394R	possibly damaging	Het
Ctnnd1	A	G	2: 84,447,024 (GRCm39)	L407P	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gapdh	A	T	6: 125,139,569 (GRCm39)	S165T	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Grik4	T	A	9: 42,458,951 (GRCm39)	S596C	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Htr5b	T	C	1: 121,455,693 (GRCm39)	T76A	probably damaging	Het
Iars1	A	G	13: 49,876,151 (GRCm39)	E812G	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Kcnj5	T	C	9: 32,234,196 (GRCm39)	T40A	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Med26	T	C	8: 73,249,746 (GRCm39)	E451G	probably damaging	Het
Nbeal1	T	A	1: 60,323,165 (GRCm39)	M2081K	probably benign	Het
Nectin4	G	A	1: 171,213,797 (GRCm39)	V433M	possibly damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pkd1	G	T	17: 24,799,863 (GRCm39)	A591S	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Rabep1	A	C	11: 70,825,400 (GRCm39)	E689A	probably damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Saxo1	A	C	4: 86,363,998 (GRCm39)	Y162D	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l2	A	T	8: 126,218,366 (GRCm39)	W324R	probably damaging	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc26a8	G	T	17: 28,866,981 (GRCm39)	L583I	probably benign	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Ttc39a	A	G	4: 109,288,785 (GRCm39)	N293S	probably benign	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfp712	T	A	13: 67,190,048 (GRCm39)	T160S	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
R1736:Spata31d1d	UTSW	13	59,874,311 (GRCm39)	missense	probably benign	0.02
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
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'- TCCACAGTATCGTAACAGCTCAGG -3'
(R):5'- TTCCCTGCTCTGTGATGCAG -3'

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

Posted On

2014-10-02