Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Spata31d1d'

506845

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1d

Ensembl Gene

ENSMUSG00000043986

Gene Name

spermatogenesis associated 31 subfamily D, member 1D

Synonyms

4932411G14Rik, Fam75d1d

MMRRC Submission

044437-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59873739-59879566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59873797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1246 (Q1246R)

Ref Sequence

ENSEMBL: ENSMUSP00000128200 (fasta)

Gene Model

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

AlphaFold

E9Q5W2

Predicted Effect

probably benign
Transcript: ENSMUST00000052978
AA Change: Q1246R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: Q1246R

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Ddx5	A	G	11: 106,679,139 (GRCm39)	S2P	possibly damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Itga7	T	A	10: 128,779,955 (GRCm39)	D501E	probably benign	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2	A	G	15: 103,159,378 (GRCm39)	I31T	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Or52e19b	C	A	7: 103,032,403 (GRCm39)	V269F	possibly damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Smurf1	A	G	5: 144,818,541 (GRCm39)	V633A	probably damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,619 (GRCm39)	Y324*	probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	probably damaging	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
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
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'- GAATGAACCCAGCCCTTTCC -3'
(R):5'- CCCAGAAATGTGAGGCTTTACAG -3'

Sequencing Primer
(F):5'- TTCCCTAAACACGAGCCCTGTG -3'
(R):5'- TACAGCCTCGCCCATCCG -3'

Posted On

2018-03-15