Mutagenetix > Incidental Mutation

Incidental Mutation 'R1253:Spata31'

151854

Institutional Source

Beutler Lab

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

Fam75a, Spata31a, 4930458L03Rik

MMRRC Submission

039320-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R1253 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65069838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 662 (Y662C)

Ref Sequence

ENSEMBL: ENSMUSP00000097025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070216] [ENSMUST00000221202]

AlphaFold

E9QAF0

Predicted Effect

probably benign
Transcript: ENSMUST00000070216
AA Change: Y662C

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: Y662C

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC
low complexity region	91	106	N/A	INTRINSIC
Pfam:FAM75	149	431	1.7e-83	PFAM
Pfam:FAM75	426	462	4.5e-9	PFAM
low complexity region	478	491	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221202

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	G	A	6: 83,499,869 (GRCm39)	T127I	probably damaging	Het
Aph1b	T	A	9: 66,697,931 (GRCm39)	K102*	probably null	Het
Caskin1	A	G	17: 24,724,047 (GRCm39)	K945R	probably damaging	Het
Ccdc137	C	A	11: 120,349,005 (GRCm39)	A12E	probably benign	Het
Cdhr1	A	G	14: 36,801,582 (GRCm39)	M787T	probably benign	Het
Cic	T	A	7: 24,990,373 (GRCm39)	V1958E	probably damaging	Het
Col6a6	T	A	9: 105,651,502 (GRCm39)	I1170F	probably null	Het
Cyp2c54	T	A	19: 40,034,629 (GRCm39)	Y347F	probably damaging	Het
Kntc1	AGTGT	AGT	5: 123,948,925 (GRCm39)		probably null	Het
Large1	T	C	8: 73,775,050 (GRCm39)	Y220C	probably damaging	Het
Macf1	A	T	4: 123,351,760 (GRCm39)	D1592E	probably damaging	Het
Mtus2	C	T	5: 148,240,380 (GRCm39)	Q76*	probably null	Het
Olfm3	A	T	3: 114,916,418 (GRCm39)	D450V	probably damaging	Het
Or1l4b	T	A	2: 37,036,884 (GRCm39)	V220D	possibly damaging	Het
Or4k6	A	G	14: 50,475,581 (GRCm39)	C254R	probably damaging	Het
Or5ae1	T	A	7: 84,565,917 (GRCm39)	I310K	probably benign	Het
Ormdl1	G	A	1: 53,344,681 (GRCm39)	R81K	possibly damaging	Het
Pcdhb12	G	A	18: 37,568,874 (GRCm39)	V7I	possibly damaging	Het
Ptprt	A	G	2: 162,120,146 (GRCm39)	I107T	probably damaging	Het
Rbm27	A	C	18: 42,434,839 (GRCm39)	D301A	probably damaging	Het
Rexo2	A	T	9: 48,380,232 (GRCm39)	I200N	probably damaging	Het
Rtn4ip1	A	T	10: 43,786,867 (GRCm39)	I192L	probably benign	Het
Serpinb9e	T	C	13: 33,439,102 (GRCm39)	F176S	possibly damaging	Het
Sorcs3	C	A	19: 48,195,175 (GRCm39)	A186E	possibly damaging	Het
Sphkap	G	A	1: 83,256,619 (GRCm39)	P377S	possibly damaging	Het
Srrt	T	C	5: 137,298,598 (GRCm39)	K222R	probably benign	Het
Tas2r129	T	C	6: 132,928,999 (GRCm39)	I312T	probably benign	Het
Thbs4	G	T	13: 92,913,413 (GRCm39)	P169Q	probably benign	Het
Tmtc3	T	C	10: 100,287,252 (GRCm39)	M515V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r92	T	A	17: 18,387,028 (GRCm39)	N122K	probably benign	Het

Other mutations in Spata31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Spata31	APN	13	65,070,602 (GRCm39)	nonsense	probably null
IGL01143:Spata31	APN	13	65,068,630 (GRCm39)	nonsense	probably null
IGL01321:Spata31	APN	13	65,069,568 (GRCm39)	missense	probably benign	0.01
IGL01624:Spata31	APN	13	65,069,399 (GRCm39)	missense	probably damaging	1.00
IGL01844:Spata31	APN	13	65,068,968 (GRCm39)	missense	possibly damaging	0.49
IGL02259:Spata31	APN	13	65,069,297 (GRCm39)	missense	possibly damaging	0.90
IGL02358:Spata31	APN	13	65,069,032 (GRCm39)	missense	probably benign
IGL02377:Spata31	APN	13	65,068,194 (GRCm39)	missense	probably damaging	0.98
IGL02723:Spata31	APN	13	65,068,463 (GRCm39)	missense	probably benign	0.10
IGL03125:Spata31	APN	13	65,068,703 (GRCm39)	missense	probably benign	0.09
IGL03343:Spata31	APN	13	65,067,587 (GRCm39)	missense	probably benign	0.41
BB006:Spata31	UTSW	13	65,069,532 (GRCm39)	missense	probably benign	0.04
BB016:Spata31	UTSW	13	65,069,532 (GRCm39)	missense	probably benign	0.04
F5770:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
IGL02991:Spata31	UTSW	13	65,068,533 (GRCm39)	missense	probably benign	0.05
P0043:Spata31	UTSW	13	65,068,820 (GRCm39)	splice site	probably null
PIT4366001:Spata31	UTSW	13	65,069,319 (GRCm39)	nonsense	probably null
PIT4458001:Spata31	UTSW	13	65,069,664 (GRCm39)	missense	probably benign	0.01
PIT4687001:Spata31	UTSW	13	65,069,151 (GRCm39)	missense	probably benign	0.02
R0042:Spata31	UTSW	13	65,070,377 (GRCm39)	missense	probably benign	0.00
R0042:Spata31	UTSW	13	65,070,377 (GRCm39)	missense	probably benign	0.00
R0064:Spata31	UTSW	13	65,069,912 (GRCm39)	missense	probably damaging	0.98
R0064:Spata31	UTSW	13	65,069,912 (GRCm39)	missense	probably damaging	0.98
R0639:Spata31	UTSW	13	65,070,027 (GRCm39)	missense	probably benign	0.02
R1536:Spata31	UTSW	13	65,069,196 (GRCm39)	missense	probably damaging	1.00
R1656:Spata31	UTSW	13	65,068,953 (GRCm39)	missense	probably benign
R1802:Spata31	UTSW	13	65,070,197 (GRCm39)	missense	probably benign	0.01
R1813:Spata31	UTSW	13	65,069,612 (GRCm39)	missense	probably benign	0.32
R1916:Spata31	UTSW	13	65,070,359 (GRCm39)	nonsense	probably null
R1917:Spata31	UTSW	13	65,068,679 (GRCm39)	missense	possibly damaging	0.92
R1933:Spata31	UTSW	13	65,068,424 (GRCm39)	missense	probably benign	0.02
R2910:Spata31	UTSW	13	65,068,250 (GRCm39)	missense	probably benign	0.12
R3750:Spata31	UTSW	13	65,069,557 (GRCm39)	missense	probably benign	0.01
R3876:Spata31	UTSW	13	65,068,745 (GRCm39)	missense	probably benign	0.03
R3980:Spata31	UTSW	13	65,070,468 (GRCm39)	missense	probably benign	0.24
R4056:Spata31	UTSW	13	65,069,469 (GRCm39)	missense	probably benign	0.00
R4300:Spata31	UTSW	13	65,067,575 (GRCm39)	missense	probably benign	0.08
R4797:Spata31	UTSW	13	65,070,556 (GRCm39)	nonsense	probably null
R4997:Spata31	UTSW	13	65,067,537 (GRCm39)	missense	probably benign	0.00
R5185:Spata31	UTSW	13	65,065,340 (GRCm39)	missense	possibly damaging	0.93
R5366:Spata31	UTSW	13	65,068,273 (GRCm39)	missense	probably damaging	0.98
R5539:Spata31	UTSW	13	65,070,783 (GRCm39)	missense	probably benign	0.00
R5704:Spata31	UTSW	13	65,069,855 (GRCm39)	missense	probably benign	0.32
R5748:Spata31	UTSW	13	65,068,127 (GRCm39)	makesense	probably null
R5834:Spata31	UTSW	13	65,070,480 (GRCm39)	missense	probably benign	0.19
R5926:Spata31	UTSW	13	65,068,539 (GRCm39)	missense	possibly damaging	0.82
R6476:Spata31	UTSW	13	65,065,456 (GRCm39)	missense	possibly damaging	0.68
R6603:Spata31	UTSW	13	65,070,479 (GRCm39)	missense	probably damaging	1.00
R6620:Spata31	UTSW	13	65,067,571 (GRCm39)	missense	possibly damaging	0.68
R6965:Spata31	UTSW	13	65,070,648 (GRCm39)	missense	possibly damaging	0.90
R7086:Spata31	UTSW	13	65,070,043 (GRCm39)	missense	probably benign	0.02
R7140:Spata31	UTSW	13	65,068,913 (GRCm39)	missense	probably benign
R7396:Spata31	UTSW	13	65,068,547 (GRCm39)	missense	probably benign
R7545:Spata31	UTSW	13	65,070,359 (GRCm39)	nonsense	probably null
R7575:Spata31	UTSW	13	65,070,726 (GRCm39)	missense	unknown
R7607:Spata31	UTSW	13	65,069,406 (GRCm39)	missense	probably damaging	1.00
R7929:Spata31	UTSW	13	65,069,532 (GRCm39)	missense	probably benign	0.04
R8024:Spata31	UTSW	13	65,070,618 (GRCm39)	missense	probably benign	0.12
R8088:Spata31	UTSW	13	65,068,679 (GRCm39)	missense	probably benign	0.31
R8323:Spata31	UTSW	13	65,070,065 (GRCm39)	missense	possibly damaging	0.61
R8362:Spata31	UTSW	13	65,070,044 (GRCm39)	missense	possibly damaging	0.58
R8870:Spata31	UTSW	13	65,068,818 (GRCm39)	missense	probably benign
R9429:Spata31	UTSW	13	65,070,336 (GRCm39)	missense	probably benign	0.43
R9465:Spata31	UTSW	13	65,068,527 (GRCm39)	missense	probably damaging	1.00
R9542:Spata31	UTSW	13	65,070,077 (GRCm39)	missense	probably damaging	0.96
R9627:Spata31	UTSW	13	65,065,409 (GRCm39)	missense	possibly damaging	0.95
V7580:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
V7581:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
V7583:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
Z1176:Spata31	UTSW	13	65,069,786 (GRCm39)	nonsense	probably null
Z1177:Spata31	UTSW	13	65,069,786 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGCTCTTCAGAGAAGCTTGCC -3'
(R):5'- TGTCTGCCACCACAATGTCACC -3'

Sequencing Primer
(F):5'- GGTGGAGTCTACCCCTTAAGATAC -3'
(R):5'- GCCACCACAATGTCACCTAATAC -3'

Posted On

2014-01-29