Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4687001:Spata31'

556201

Institutional Source

Beutler Lab

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 #

PIT4687001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65069151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 433 (D433G)

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: D433G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: D433G

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: 93.4%
3x: 90.8%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	T	G	3: 137,995,596 (GRCm39)	V333G	probably damaging	Het
Aggf1	A	G	13: 95,501,383 (GRCm39)	L333P	probably damaging	Het
Ankmy1	A	G	1: 92,812,803 (GRCm39)	V502A	probably benign	Het
Atm	A	G	9: 53,398,112 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,949,526 (GRCm39)	T1594A	probably damaging	Het
Cep290	T	A	10: 100,373,453 (GRCm39)	D1244E	probably benign	Het
Ctnna3	A	G	10: 64,670,385 (GRCm39)	D638G	probably damaging	Het
Ctsr	T	C	13: 61,308,346 (GRCm39)	H266R	possibly damaging	Het
D630045J12Rik	C	T	6: 38,172,036 (GRCm39)	E711K	probably benign	Het
Dnah5	T	C	15: 28,383,723 (GRCm39)	S2982P	probably damaging	Het
Dsg1a	G	T	18: 20,464,755 (GRCm39)	A417S	probably benign	Het
Gdpd1	T	C	11: 86,950,366 (GRCm39)	D69G	probably damaging	Het
Gp2	C	T	7: 119,050,801 (GRCm39)	R310H	possibly damaging	Het
Ifna2	G	A	4: 88,601,542 (GRCm39)	H159Y	possibly damaging	Het
Kptn	T	C	7: 15,859,751 (GRCm39)	V325A	probably damaging	Het
Marchf7	A	G	2: 60,062,622 (GRCm39)	E143G	probably damaging	Het
Mcm4	A	G	16: 15,454,577 (GRCm39)	L47P	probably benign	Het
Mcm8	T	C	2: 132,659,097 (GRCm39)	F27S	possibly damaging	Het
Nod2	T	A	8: 89,408,274 (GRCm39)	V967E	probably damaging	Het
Nrxn2	G	A	19: 6,531,338 (GRCm39)	R659Q	probably benign	Het
Or10al4	T	G	17: 38,037,082 (GRCm39)	C56G	probably benign	Het
Or4x12-ps1	A	G	2: 89,916,733 (GRCm39)	V24A	probably benign	Het
Parp10	C	T	15: 76,125,122 (GRCm39)	R545Q	probably benign	Het
Ppp2r3d	T	C	9: 101,021,579 (GRCm39)	E332G	probably benign	Het
Pramel27	C	T	4: 143,573,103 (GRCm39)		probably benign	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Qsox2	G	A	2: 26,112,300 (GRCm39)	L81F	possibly damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Stpg2	T	C	3: 138,921,026 (GRCm39)	I77T	possibly damaging	Het
Sugp2	T	C	8: 70,710,162 (GRCm39)	S928P	probably damaging	Het
Syne1	A	G	10: 5,308,390 (GRCm39)	S722P	possibly damaging	Het
Szt2	A	T	4: 118,255,398 (GRCm39)	S229T	possibly damaging	Het
Tm9sf3	A	G	19: 41,206,630 (GRCm39)	L505P	probably damaging	Het
Ttc39d	G	A	17: 80,524,354 (GRCm39)	A338T	probably damaging	Het
Ubash3b	A	G	9: 40,934,814 (GRCm39)	F489L	probably damaging	Het
Xpo7	A	T	14: 70,904,589 (GRCm39)	Y1015N	probably benign	Het
Zbtb14	C	A	17: 69,695,302 (GRCm39)	Y333*	probably null	Het
Zp2	T	C	7: 119,741,102 (GRCm39)	T141A	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
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

Predicted Primers

PCR Primer
(F):5'- CCCCATAAGATCCAAGTGTCTG -3'
(R):5'- TGAAGAGCACATGGACTTTGC -3'

Sequencing Primer
(F):5'- TGTCTGAGAAAATGAAGGAGCTTC -3'
(R):5'- GCACATGGACTTTGCTGAAC -3'

Posted On

2019-06-07