Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01844:Spata31'

178141

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

Fam75a, Spata31a, 4930458L03Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01844

Quality Score

Status

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65068968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 372 (V372A)

Ref Sequence

ENSEMBL: ENSMUSP00000097025 (fasta)

Gene Model

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

AlphaFold

E9QAF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070216
AA Change: V372A

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: V372A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	G	17: 84,989,453 (GRCm39)	I85T	probably damaging	Het
Amer2	A	G	14: 60,617,356 (GRCm39)	D391G	possibly damaging	Het
Atp13a3	A	T	16: 30,180,781 (GRCm39)	C83S	probably benign	Het
Bdh2	A	T	3: 134,994,080 (GRCm39)	Q54L	probably benign	Het
Cep128	A	G	12: 90,975,628 (GRCm39)	S1051P	probably benign	Het
Dop1a	A	G	9: 86,396,138 (GRCm39)	T865A	probably damaging	Het
Epha8	C	A	4: 136,658,360 (GRCm39)	*1005L	probably null	Het
Etl4	T	C	2: 20,811,493 (GRCm39)	V1509A	probably benign	Het
Gucy1b1	T	C	3: 81,953,833 (GRCm39)	E161G	possibly damaging	Het
Hepacam	T	A	9: 37,291,912 (GRCm39)	V80E	probably damaging	Het
Ireb2	A	G	9: 54,772,641 (GRCm39)	K24E	probably benign	Het
Itch	T	A	2: 155,014,467 (GRCm39)	D101E	possibly damaging	Het
Itch	T	A	2: 155,014,406 (GRCm39)	F81Y	possibly damaging	Het
Kctd16	A	G	18: 40,390,373 (GRCm39)	I115M	probably damaging	Het
Klf7	C	A	1: 64,117,933 (GRCm39)	Q221H	probably benign	Het
Kptn	A	G	7: 15,857,897 (GRCm39)	T242A	probably benign	Het
Macf1	A	G	4: 123,334,485 (GRCm39)	F4420S	probably benign	Het
Mthfd2	A	G	6: 83,288,792 (GRCm39)		probably null	Het
Mtrf1l	A	C	10: 5,764,112 (GRCm39)	L284V	probably null	Het
Neb	C	T	2: 52,060,561 (GRCm39)	V2259I	probably benign	Het
Or4c111	A	T	2: 88,843,814 (GRCm39)	V198E	possibly damaging	Het
Or9i14	A	T	19: 13,792,180 (GRCm39)	M258K	possibly damaging	Het
Padi1	A	T	4: 140,556,746 (GRCm39)	C154S	probably damaging	Het
Paxip1	T	C	5: 27,956,036 (GRCm39)	T903A	probably benign	Het
Phactr2	T	A	10: 13,129,181 (GRCm39)	L292F	probably benign	Het
Pkhd1l1	G	A	15: 44,362,796 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,940,985 (GRCm39)		probably null	Het
Rif1	T	A	2: 52,002,555 (GRCm39)	I2003K	probably benign	Het
Rxfp3	A	T	15: 11,037,132 (GRCm39)	V80E	probably damaging	Het
Sart3	T	A	5: 113,883,709 (GRCm39)	K768*	probably null	Het
Slc35f5	C	T	1: 125,517,612 (GRCm39)	T470I	probably damaging	Het
Smg8	A	T	11: 86,971,102 (GRCm39)	Y890N	probably damaging	Het
Tbc1d30	A	T	10: 121,103,084 (GRCm39)	D649E	probably benign	Het
Tctn3	G	A	19: 40,600,581 (GRCm39)	T3I	probably damaging	Het
Tns3	G	A	11: 8,387,177 (GRCm39)	P1337S	possibly damaging	Het
Vmn2r15	T	A	5: 109,434,135 (GRCm39)	*856C	probably null	Het
Vmn2r61	A	T	7: 41,909,639 (GRCm39)	I55F	probably benign	Het
Zbtb41	C	T	1: 139,375,065 (GRCm39)	P842S	probably benign	Het
Zc3h13	A	G	14: 75,581,209 (GRCm39)		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
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
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

Posted On

2014-05-07