Mutagenetix > Incidental Mutation

Incidental Mutation 'R7536:Spata31d1e'

583612

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1e

Ensembl Gene

ENSMUSG00000051054

Gene Name

spermatogenesis associated 31 subfamily D, member 1E

Synonyms

1700014D04Rik

MMRRC Submission

045608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59888656-59894566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59889556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 755 (V755M)

Ref Sequence

ENSEMBL: ENSMUSP00000136424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]

AlphaFold

J3QMS2

Predicted Effect

probably benign
Transcript: ENSMUST00000055343

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178508

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	99	7.4e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180139
AA Change: V755M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: V755M

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	439	6.9e-97	PFAM
low complexity region	622	633	N/A	INTRINSIC
low complexity region	671	693	N/A	INTRINSIC
low complexity region	737	763	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
AI597479	C	G	1: 43,150,505 (GRCm39)	A205G	possibly damaging	Het
Akr1c14	T	A	13: 4,113,690 (GRCm39)	V74E	probably damaging	Het
Armh4	G	T	14: 50,011,703 (GRCm39)		probably null	Het
Bbs9	A	T	9: 22,582,096 (GRCm39)	Q596L	probably damaging	Het
Bub3	A	G	7: 131,170,432 (GRCm39)	D318G	probably damaging	Het
Cela1	A	G	15: 100,573,245 (GRCm39)	V248A	probably damaging	Het
Cer1	C	A	4: 82,803,205 (GRCm39)	R39L	probably benign	Het
Clec16a	A	G	16: 10,456,708 (GRCm39)	T624A	possibly damaging	Het
Coro1c	C	A	5: 113,983,350 (GRCm39)	G393W	probably damaging	Het
Crym	A	G	7: 119,800,331 (GRCm39)	L97P	probably damaging	Het
Cyp2a5	T	G	7: 26,539,903 (GRCm39)	L317R	probably damaging	Het
Cyp2j6	C	A	4: 96,423,774 (GRCm39)	G198V	probably damaging	Het
Dnajb6	A	G	5: 29,962,804 (GRCm39)	E238G	possibly damaging	Het
Dnhd1	C	A	7: 105,358,768 (GRCm39)	T3419K	probably damaging	Het
Dpep3	A	T	8: 106,704,032 (GRCm39)	I262K	probably damaging	Het
Dscam	T	G	16: 96,442,226 (GRCm39)		probably null	Het
Farsb	A	G	1: 78,420,391 (GRCm39)	V500A	possibly damaging	Het
Fbxl20	A	T	11: 97,986,209 (GRCm39)	C136*	probably null	Het
Fbxo43	G	T	15: 36,161,997 (GRCm39)	D403E	probably benign	Het
Frem1	A	G	4: 82,874,432 (GRCm39)	S1397P	probably damaging	Het
Fut8	A	G	12: 77,521,852 (GRCm39)	Y497C	probably damaging	Het
Gbp3	A	T	3: 142,272,156 (GRCm39)	R219S	probably damaging	Het
Gm14295	T	A	2: 176,502,722 (GRCm39)	H737Q	possibly damaging	Het
Gpr89	C	A	3: 96,798,209 (GRCm39)	R149L	probably damaging	Het
Greb1	A	T	12: 16,732,186 (GRCm39)	Y1592N	probably damaging	Het
Gria4	A	C	9: 4,464,298 (GRCm39)	Y555D	probably damaging	Het
Hspa1b	T	A	17: 35,177,851 (GRCm39)	T45S	possibly damaging	Het
Kif5b	A	T	18: 6,216,235 (GRCm39)	N571K	probably benign	Het
Mapkbp1	T	A	2: 119,849,066 (GRCm39)	M694K	probably damaging	Het
Med24	G	A	11: 98,603,447 (GRCm39)	H439Y	possibly damaging	Het
Mgl2	G	T	11: 70,027,833 (GRCm39)	R347L	probably benign	Het
Mms22l	T	A	4: 24,581,240 (GRCm39)	L850Q	probably damaging	Het
Mrpl51	T	C	6: 125,169,530 (GRCm39)	V44A	possibly damaging	Het
Mylk3	T	C	8: 86,080,233 (GRCm39)	I485V	probably benign	Het
Or10ag54	C	T	2: 87,099,943 (GRCm39)	Q273*	probably null	Het
Or7e174	C	A	9: 20,012,826 (GRCm39)	T257K	probably damaging	Het
Pde4dip	A	G	3: 97,664,560 (GRCm39)	L434P	probably damaging	Het
Pla2g4a	T	C	1: 149,755,768 (GRCm39)	Y223C	probably damaging	Het
Plcl1	C	T	1: 55,752,640 (GRCm39)	Q995*	probably null	Het
Pls1	C	T	9: 95,644,110 (GRCm39)	C462Y	probably damaging	Het
Ppp6r3	T	C	19: 3,557,341 (GRCm39)	E249G	possibly damaging	Het
Prb1a	T	A	6: 132,184,184 (GRCm39)	N483I	unknown	Het
R3hdm1	A	G	1: 128,109,948 (GRCm39)		probably null	Het
Rasgrp3	T	C	17: 75,821,128 (GRCm39)	F445S	probably damaging	Het
Rnf39	G	T	17: 37,254,009 (GRCm39)	L10F	probably damaging	Het
Rnh1	T	C	7: 140,740,725 (GRCm39)	D410G	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bp2	A	G	5: 34,700,901 (GRCm39)	T35A	probably benign	Het
Skint6	T	A	4: 112,668,744 (GRCm39)		probably null	Het
Slc13a1	A	T	6: 24,100,330 (GRCm39)	D384E	probably damaging	Het
Slc27a6	A	G	18: 58,689,698 (GRCm39)	T55A	probably damaging	Het
Slc46a2	G	A	4: 59,914,141 (GRCm39)	Q261*	probably null	Het
St7	C	G	6: 17,886,019 (GRCm39)	P327R	probably damaging	Het
Stx1a	T	C	5: 135,078,694 (GRCm39)	I268T	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tmem145	T	C	7: 25,007,294 (GRCm39)	S171P	probably damaging	Het
Traf2	A	G	2: 25,427,118 (GRCm39)	Y78H	possibly damaging	Het
Tsc22d1	A	G	14: 76,742,203 (GRCm39)	Y16C	probably benign	Het
Ttc39b	A	T	4: 83,158,215 (GRCm39)	Y503*	probably null	Het
Ttn	T	C	2: 76,547,681 (GRCm39)	D32163G	probably benign	Het
Uba6	A	T	5: 86,272,191 (GRCm39)	S833T	probably benign	Het
Wdtc1	A	G	4: 133,022,561 (GRCm39)	L595P	probably damaging	Het

Other mutations in Spata31d1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:Spata31d1e	UTSW	13	59,891,565 (GRCm39)	missense	probably damaging	1.00
BB020:Spata31d1e	UTSW	13	59,891,565 (GRCm39)	missense	probably damaging	1.00
R0838:Spata31d1e	UTSW	13	59,890,282 (GRCm39)	missense	possibly damaging	0.75
R1483:Spata31d1e	UTSW	13	59,890,717 (GRCm39)	missense	probably damaging	0.99
R1794:Spata31d1e	UTSW	13	59,890,434 (GRCm39)	missense	probably benign	0.22
R1842:Spata31d1e	UTSW	13	59,890,320 (GRCm39)	missense	probably damaging	1.00
R1969:Spata31d1e	UTSW	13	59,890,599 (GRCm39)	missense	probably damaging	0.98
R2027:Spata31d1e	UTSW	13	59,890,401 (GRCm39)	missense	possibly damaging	0.48
R2206:Spata31d1e	UTSW	13	59,890,920 (GRCm39)	missense	probably benign	0.40
R2207:Spata31d1e	UTSW	13	59,890,920 (GRCm39)	missense	probably benign	0.40
R2882:Spata31d1e	UTSW	13	59,890,757 (GRCm39)	missense	probably benign	0.00
R3508:Spata31d1e	UTSW	13	59,890,319 (GRCm39)	nonsense	probably null
R4447:Spata31d1e	UTSW	13	59,890,012 (GRCm39)	missense	probably benign	0.03
R4560:Spata31d1e	UTSW	13	59,889,571 (GRCm39)	missense	probably damaging	1.00
R4846:Spata31d1e	UTSW	13	59,890,047 (GRCm39)	missense	probably benign	0.00
R5186:Spata31d1e	UTSW	13	59,891,553 (GRCm39)	missense	probably damaging	1.00
R5510:Spata31d1e	UTSW	13	59,890,234 (GRCm39)	splice site	probably null
R5580:Spata31d1e	UTSW	13	59,890,070 (GRCm39)	missense	probably benign	0.00
R5752:Spata31d1e	UTSW	13	59,891,016 (GRCm39)	missense	probably damaging	0.96
R6266:Spata31d1e	UTSW	13	59,890,126 (GRCm39)	missense	probably benign	0.33
R6267:Spata31d1e	UTSW	13	59,890,497 (GRCm39)	missense	probably benign	0.13
R6296:Spata31d1e	UTSW	13	59,890,497 (GRCm39)	missense	probably benign	0.13
R6939:Spata31d1e	UTSW	13	59,889,872 (GRCm39)	missense	possibly damaging	0.75
R6973:Spata31d1e	UTSW	13	59,890,521 (GRCm39)	missense	probably benign	0.14
R7107:Spata31d1e	UTSW	13	59,889,997 (GRCm39)	nonsense	probably null
R7123:Spata31d1e	UTSW	13	59,891,254 (GRCm39)	nonsense	probably null
R7254:Spata31d1e	UTSW	13	59,889,790 (GRCm39)	missense	probably benign	0.01
R7354:Spata31d1e	UTSW	13	59,889,648 (GRCm39)	nonsense	probably null
R7729:Spata31d1e	UTSW	13	59,889,437 (GRCm39)	missense	not run
R7912:Spata31d1e	UTSW	13	59,890,329 (GRCm39)	missense	probably damaging	1.00
R7933:Spata31d1e	UTSW	13	59,891,565 (GRCm39)	missense	probably damaging	1.00
R8029:Spata31d1e	UTSW	13	59,890,191 (GRCm39)	missense	possibly damaging	0.79
R8347:Spata31d1e	UTSW	13	59,890,050 (GRCm39)	missense	possibly damaging	0.63
R8370:Spata31d1e	UTSW	13	59,891,766 (GRCm39)	missense	probably benign
R8395:Spata31d1e	UTSW	13	59,889,540 (GRCm39)	missense	probably benign	0.00
R8508:Spata31d1e	UTSW	13	59,891,412 (GRCm39)	missense	probably benign	0.02
R8930:Spata31d1e	UTSW	13	59,890,015 (GRCm39)	missense	possibly damaging	0.76
R8932:Spata31d1e	UTSW	13	59,890,015 (GRCm39)	missense	possibly damaging	0.76
R9127:Spata31d1e	UTSW	13	59,890,828 (GRCm39)	missense	probably benign	0.00
R9262:Spata31d1e	UTSW	13	59,890,402 (GRCm39)	missense	probably benign	0.00
R9401:Spata31d1e	UTSW	13	59,890,012 (GRCm39)	missense	probably benign	0.03
R9514:Spata31d1e	UTSW	13	59,890,806 (GRCm39)	missense	probably damaging	0.96
R9786:Spata31d1e	UTSW	13	59,890,498 (GRCm39)	missense	possibly damaging	0.84
X0024:Spata31d1e	UTSW	13	59,890,539 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGATGTTCCCTCTTGCTTG -3'
(R):5'- GGCAGAGCCCATCAAAGATG -3'

Sequencing Primer
(F):5'- AATTCCTGAGGGTCGCTTC -3'
(R):5'- AGATGTCAGTCCCTGAAGAGCC -3'

Posted On

2019-10-17