Mutagenetix > Incidental Mutation

Incidental Mutation 'R5539:Spata31'

435838

Institutional Source

Beutler Lab

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

Fam75a, Spata31a, 4930458L03Rik

MMRRC Submission

043097-MU

Accession Numbers

Essential gene?

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

Stock #

R5539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65070783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 977 (I977K)

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: I977K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: I977K

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

noncoding transcript
Transcript: ENSMUST00000220879

Predicted Effect

probably benign
Transcript: ENSMUST00000221202

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,917 (GRCm39)	S44C	probably damaging	Het
Abca4	A	G	3: 121,963,557 (GRCm39)	I846V	probably damaging	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Arhgap12	A	T	18: 6,111,932 (GRCm39)	L144H	probably benign	Het
Ccdc141	A	T	2: 76,845,437 (GRCm39)	I1210N	probably damaging	Het
Ccdc175	T	C	12: 72,191,587 (GRCm39)	T330A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah17	T	C	11: 117,964,486 (GRCm39)	K2444E	probably benign	Het
Dnajc3	G	A	14: 119,208,159 (GRCm39)	V265M	probably damaging	Het
Flg2	T	A	3: 93,127,753 (GRCm39)	Y2222N	unknown	Het
Flnc	G	T	6: 29,446,229 (GRCm39)	G882V	probably damaging	Het
Fndc5	T	A	4: 129,032,514 (GRCm39)	V39D	probably damaging	Het
Gabrr3	A	T	16: 59,281,758 (GRCm39)	H371L	probably benign	Het
Gm10717	A	T	9: 3,030,438 (GRCm39)	H33L	probably damaging	Het
Gm5422	A	G	10: 31,124,646 (GRCm39)		noncoding transcript	Het
Kri1	G	A	9: 21,190,668 (GRCm39)	Q280*	probably null	Het
Lcp1	T	C	14: 75,466,738 (GRCm39)	V615A	probably benign	Het
Ltbp4	T	C	7: 27,027,149 (GRCm39)	Y407C	probably damaging	Het
Med30	G	T	15: 52,584,462 (GRCm39)	D127Y	probably damaging	Het
Mybpc2	A	G	7: 44,164,317 (GRCm39)	V416A	probably benign	Het
Notch2	C	T	3: 98,044,898 (GRCm39)	R1607C	probably damaging	Het
Nr4a3	T	A	4: 48,056,525 (GRCm39)		probably null	Het
Ntf5	G	T	7: 45,065,354 (GRCm39)	R162L	probably benign	Het
Nxpe3	A	G	16: 55,711,034 (GRCm39)	W2R	possibly damaging	Het
Or10d1c	T	C	9: 38,893,573 (GRCm39)	I256V	possibly damaging	Het
Or14j4	T	A	17: 37,921,646 (GRCm39)	M1L	probably benign	Het
Or1m1	G	A	9: 18,666,134 (GRCm39)	R266C	probably damaging	Het
Or5p58	A	T	7: 107,694,433 (GRCm39)	C115S	probably benign	Het
Pan2	C	A	10: 128,144,002 (GRCm39)	D99E	probably benign	Het
Pcdh12	T	C	18: 38,414,797 (GRCm39)	H776R	possibly damaging	Het
Prdm2	T	C	4: 142,859,264 (GRCm39)	H1342R	possibly damaging	Het
Prpf8	A	G	11: 75,394,464 (GRCm39)	T1800A	probably benign	Het
Prss40	T	C	1: 34,591,760 (GRCm39)	*148W	probably null	Het
Pygo1	C	T	9: 72,852,061 (GRCm39)	P83S	probably damaging	Het
Raf1	G	T	6: 115,596,317 (GRCm39)	S619R	probably damaging	Het
Rtf1	A	G	2: 119,560,405 (GRCm39)	M596V	possibly damaging	Het
Slc12a5	T	A	2: 164,829,126 (GRCm39)	D578E	possibly damaging	Het
Slc35b4	A	G	6: 34,153,737 (GRCm39)	V18A	probably damaging	Het
Tor2a	T	C	2: 32,650,672 (GRCm39)	I222T	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Trip11	A	G	12: 101,851,386 (GRCm39)	S893P	probably damaging	Het
Trmt10c	G	A	16: 55,855,324 (GRCm39)	P104S	probably damaging	Het
Ubr3	A	T	2: 69,850,877 (GRCm39)	Y1765F	probably damaging	Het
Zfp951	C	T	5: 104,962,712 (GRCm39)	E285K	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
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
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'- TGTACAGAACAGGCACATCAG -3'
(R):5'- ATGTCTGTCAATCACCCCACTG -3'

Sequencing Primer
(F):5'- GAAACCAACTGCCTCAGAGAAGTG -3'
(R):5'- CCCTTTTATGGGGGAAAAACATG -3'

Posted On

2016-10-24