Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01321:Spata31'

74034

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: 0.216) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65069568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 572 (I572T)

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: I572T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: I572T

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Adamts5	T	C	16: 85,696,363 (GRCm39)	R265G	probably benign	Het
Cd2ap	T	C	17: 43,156,280 (GRCm39)	S86G	possibly damaging	Het
Cers3	A	C	7: 66,435,751 (GRCm39)		probably benign	Het
Dnaaf2	G	T	12: 69,243,376 (GRCm39)	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,188 (GRCm39)	V520G	probably benign	Het
Dync1h1	A	G	12: 110,592,041 (GRCm39)		probably benign	Het
Extl3	T	C	14: 65,304,211 (GRCm39)	N733D	probably benign	Het
Gm5499	T	A	17: 87,385,928 (GRCm39)		noncoding transcript	Het
Gstm6	T	C	3: 107,848,379 (GRCm39)	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,351,524 (GRCm39)	R460W	probably damaging	Het
Ift81	T	C	5: 122,749,031 (GRCm39)	D40G	probably damaging	Het
Igsf3	T	A	3: 101,334,338 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,383,147 (GRCm39)	T158A	probably benign	Het
Lrrc59	C	T	11: 94,529,426 (GRCm39)	R167*	probably null	Het
Macf1	A	G	4: 123,334,567 (GRCm39)	C4397R	probably damaging	Het
Morc1	T	C	16: 48,402,825 (GRCm39)	S583P	probably benign	Het
Mucl3	A	T	17: 35,947,758 (GRCm39)	N490K	probably damaging	Het
Nipsnap2	T	A	5: 129,834,205 (GRCm39)	*282R	probably null	Het
Or2ag19	T	C	7: 106,443,956 (GRCm39)	L46P	probably damaging	Het
Or9m1b	A	T	2: 87,836,589 (GRCm39)	C178S	probably damaging	Het
Parp14	T	A	16: 35,676,929 (GRCm39)	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,289,961 (GRCm39)	S480A	probably benign	Het
Piezo1	A	T	8: 123,214,339 (GRCm39)	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,180,971 (GRCm39)		probably null	Het
Plpp2	A	T	10: 79,363,327 (GRCm39)	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,863,816 (GRCm39)	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,987,501 (GRCm39)	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259 (GRCm39)	D334V	probably benign	Het
Sipa1l2	G	A	8: 126,218,257 (GRCm39)	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,070,611 (GRCm39)	D5V	probably damaging	Het
Tma16	G	A	8: 66,929,512 (GRCm39)	L161F	probably benign	Het
Trappc2b	A	T	11: 51,576,670 (GRCm39)	V76D	probably damaging	Het
Trim69	A	T	2: 122,003,765 (GRCm39)	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,307,388 (GRCm39)	T205A	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
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
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

2013-10-07