Mutagenetix > Incidental Mutation

Incidental Mutation 'R4300:Spata31'

322390

Institutional Source

Beutler Lab

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

Fam75a, Spata31a, 4930458L03Rik

MMRRC Submission

041657-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R4300 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65067575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 79 (H79L)

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: H79L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: H79L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	A	3: 146,356,675 (GRCm39)	R78*	probably null	Het
A2m	G	A	6: 121,650,434 (GRCm39)	V1181I	probably benign	Het
Cacna1b	T	C	2: 24,525,251 (GRCm39)	S1639G	probably damaging	Het
Ccs	T	C	19: 4,884,285 (GRCm39)	T56A	probably benign	Het
Cd177	T	C	7: 24,449,845 (GRCm39)	I547V	possibly damaging	Het
Ckmt2	C	A	13: 92,011,457 (GRCm39)		probably null	Het
Cyth1	A	G	11: 118,074,720 (GRCm39)	F180L	probably damaging	Het
Dip2c	A	G	13: 9,660,747 (GRCm39)	I840M	probably damaging	Het
Gm37150	G	A	9: 72,292,758 (GRCm39)		noncoding transcript	Het
Herc1	A	G	9: 66,396,688 (GRCm39)	D4255G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn4	G	T	7: 24,077,029 (GRCm39)	V193L	probably benign	Het
Lrrc8d	G	A	5: 105,961,606 (GRCm39)	R672Q	probably damaging	Het
Mboat2	A	G	12: 25,009,082 (GRCm39)	N463D	probably benign	Het
Mtfr1	T	A	3: 19,269,621 (GRCm39)		probably null	Het
Or10g6	A	C	9: 39,934,435 (GRCm39)	I249L	probably benign	Het
Or5h24	T	C	16: 58,918,641 (GRCm39)	Y238C	unknown	Het
Pcnt	G	C	10: 76,203,225 (GRCm39)	R2626G	probably benign	Het
Pik3cg	A	G	12: 32,226,671 (GRCm39)	I1072T	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psph	G	T	5: 129,864,529 (GRCm39)		probably null	Het
Rfx4	T	C	10: 84,740,966 (GRCm39)	Y601H	probably damaging	Het
Rmc1	A	G	18: 12,321,919 (GRCm39)	N513D	probably benign	Het
Setd5	T	G	6: 113,127,123 (GRCm39)	V1249G	probably damaging	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Srbd1	C	A	17: 86,292,632 (GRCm39)	R979L	probably damaging	Het
Stox2	A	T	8: 47,647,027 (GRCm39)	Y208*	probably null	Het
Sun1	A	T	5: 139,213,349 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tubgcp3	G	T	8: 12,707,600 (GRCm39)	P130T	probably damaging	Het
Txlnb	A	G	10: 17,703,673 (GRCm39)	E277G	probably damaging	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
R1253:Spata31	UTSW	13	65,069,838 (GRCm39)	missense	probably benign	0.23
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
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'- GTCTCTGCTAGTGACCACAC -3'
(R):5'- GCTCCTAAGAGTCTAGAGACCTTCC -3'

Sequencing Primer
(F):5'- GTGACCACACACACACACAC -3'
(R):5'- GTCTAGAGACCTTCCTGTTAGGAAC -3'

Posted On

2015-06-20