Mutagenetix > Incidental Mutation

Incidental Mutation 'R0639:Spata31'

56952

Institutional Source

Beutler Lab

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

Fam75a, Spata31a, 4930458L03Rik

MMRRC Submission

038828-MU

Accession Numbers

Essential gene?

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

Stock #

R0639 (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 65070027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 725 (V725E)

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: V725E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: V725E

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: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 46,043,999 (GRCm39)	W86*	probably null	Het
Acadl	T	C	1: 66,896,567 (GRCm39)	H75R	probably benign	Het
Adamtsl1	T	C	4: 86,195,380 (GRCm39)	F599S	probably damaging	Het
Adrb3	T	C	8: 27,718,293 (GRCm39)	N52S	probably damaging	Het
Agbl3	T	A	6: 34,776,640 (GRCm39)	L377Q	probably damaging	Het
Akap9	T	C	5: 4,110,318 (GRCm39)	L3007P	probably damaging	Het
Amer3	T	A	1: 34,626,902 (GRCm39)	Y380*	probably null	Het
Ankrd13d	A	T	19: 4,323,047 (GRCm39)		probably null	Het
Ap4m1	T	A	5: 138,174,501 (GRCm39)	C235S	probably benign	Het
Arhgap29	T	C	3: 121,801,290 (GRCm39)	F675S	probably damaging	Het
Asah2	C	A	19: 31,986,039 (GRCm39)	V544F	probably damaging	Het
Ash2l	A	G	8: 26,313,319 (GRCm39)	I389T	possibly damaging	Het
Bend5	T	C	4: 111,290,495 (GRCm39)	S164P	probably benign	Het
Cacna1d	A	G	14: 29,893,251 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,039,182 (GRCm39)	N516D	probably benign	Het
Cdc27	A	G	11: 104,422,560 (GRCm39)	Y125H	probably damaging	Het
Cdk5r2	C	T	1: 74,894,995 (GRCm39)	L247F	probably damaging	Het
Cenpf	C	A	1: 189,390,259 (GRCm39)	G1191V	probably benign	Het
Cops4	C	T	5: 100,685,326 (GRCm39)	T293I	possibly damaging	Het
Csmd3	A	G	15: 47,777,336 (GRCm39)	L1294P	probably damaging	Het
Dclre1a	T	C	19: 56,526,872 (GRCm39)	Y848C	probably damaging	Het
Disp2	A	T	2: 118,621,325 (GRCm39)	I686F	possibly damaging	Het
Dnah6	T	A	6: 72,999,395 (GRCm39)	Y4012F	probably benign	Het
Dnajc11	C	G	4: 152,054,393 (GRCm39)	R200G	probably damaging	Het
Dnhd1	A	T	7: 105,345,671 (GRCm39)	D2272V	possibly damaging	Het
Elane	A	C	10: 79,722,183 (GRCm39)	R5S	possibly damaging	Het
Entpd7	G	A	19: 43,679,533 (GRCm39)	V29M	probably benign	Het
Fanca	A	G	8: 124,016,098 (GRCm39)		probably null	Het
Fgl1	G	T	8: 41,644,661 (GRCm39)	T281K	probably benign	Het
Flii	T	C	11: 60,613,823 (GRCm39)		probably null	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Fzd7	T	A	1: 59,523,719 (GRCm39)	M534K	probably damaging	Het
Galnt5	A	G	2: 57,889,407 (GRCm39)	T336A	probably benign	Het
Gli3	G	A	13: 15,899,300 (GRCm39)	D896N	probably damaging	Het
Gsx1	G	T	5: 147,126,756 (GRCm39)	W193L	probably damaging	Het
Gtpbp3	A	T	8: 71,945,379 (GRCm39)	I485F	probably damaging	Het
H2-M11	A	G	17: 36,858,283 (GRCm39)	T26A	probably benign	Het
Igfbp7	T	C	5: 77,499,827 (GRCm39)	D243G	probably damaging	Het
Il31ra	A	T	13: 112,662,377 (GRCm39)	D477E	possibly damaging	Het
Inmt	A	C	6: 55,148,212 (GRCm39)	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,451,147 (GRCm39)	M501L	probably benign	Het
Itsn2	T	C	12: 4,762,556 (GRCm39)	F1579L	probably damaging	Het
Kat2b	C	A	17: 53,874,566 (GRCm39)	A70E	probably benign	Het
Klhl20	T	C	1: 160,921,281 (GRCm39)	E58G	probably damaging	Het
Krt79	A	T	15: 101,839,983 (GRCm39)	Y337*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Letm1	T	C	5: 33,926,770 (GRCm39)	I176V	possibly damaging	Het
Lingo3	C	A	10: 80,671,618 (GRCm39)	R104L	probably benign	Het
Lrig3	T	G	10: 125,846,090 (GRCm39)	C840G	probably damaging	Het
Lrrc9	A	G	12: 72,533,062 (GRCm39)	N977S	probably damaging	Het
Lrrk2	T	A	15: 91,657,199 (GRCm39)	M1831K	probably benign	Het
Mn1	A	T	5: 111,567,182 (GRCm39)	D384V	probably damaging	Het
Morc3	C	A	16: 93,650,738 (GRCm39)	H319Q	probably damaging	Het
Morn1	T	C	4: 155,173,960 (GRCm39)	F56L	possibly damaging	Het
Mrpl53	G	T	6: 83,086,392 (GRCm39)	V64L	probably damaging	Het
Myo15a	T	A	11: 60,370,162 (GRCm39)	V974D	probably benign	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nfasc	A	C	1: 132,531,554 (GRCm39)	N737K	probably damaging	Het
Nlk	T	C	11: 78,463,103 (GRCm39)	D464G	possibly damaging	Het
Nlrc4	C	T	17: 74,733,958 (GRCm39)	R985K	probably benign	Het
Nsun6	T	C	2: 15,001,147 (GRCm39)	K470E	probably benign	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Or8b39	G	A	9: 37,996,666 (GRCm39)	C178Y	probably damaging	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Pclo	C	T	5: 14,731,763 (GRCm39)	R296*	probably null	Het
Pdzd2	A	T	15: 12,458,144 (GRCm39)	C240S	possibly damaging	Het
Plekhg5	A	G	4: 152,198,577 (GRCm39)	T922A	probably benign	Het
Plekhm2	A	C	4: 141,369,381 (GRCm39)	L101R	probably damaging	Het
Plscr3	T	A	11: 69,738,820 (GRCm39)	C161S	probably benign	Het
Prr14l	C	T	5: 32,986,259 (GRCm39)	D1079N	probably benign	Het
Ptpru	A	T	4: 131,498,490 (GRCm39)	V1377E	possibly damaging	Het
Rab37	C	A	11: 115,049,528 (GRCm39)	D112E	probably benign	Het
Raet1e	T	A	10: 22,050,274 (GRCm39)	I19N	probably damaging	Het
Rassf5	T	C	1: 131,172,803 (GRCm39)	Y22C	probably damaging	Het
Rp1	T	C	1: 4,416,721 (GRCm39)	T1464A	probably benign	Het
Safb	T	A	17: 56,908,092 (GRCm39)		probably benign	Het
Scarf2	A	G	16: 17,624,369 (GRCm39)		probably null	Het
Scart2	A	G	7: 139,827,872 (GRCm39)	N27D	probably benign	Het
Sh3d19	T	C	3: 86,014,280 (GRCm39)	S415P	probably benign	Het
Slc26a9	T	A	1: 131,691,542 (GRCm39)	L595Q	probably damaging	Het
Slc4a8	T	C	15: 100,694,431 (GRCm39)	Y470H	probably damaging	Het
Slitrk3	T	C	3: 72,956,982 (GRCm39)	N597D	probably benign	Het
Spink12	T	A	18: 44,240,831 (GRCm39)	C72*	probably null	Het
Spink5	T	A	18: 44,146,042 (GRCm39)		probably null	Het
Stk40	C	A	4: 126,012,125 (GRCm39)	S9*	probably null	Het
Sypl1	A	T	12: 33,015,420 (GRCm39)	T40S	probably damaging	Het
Tbc1d8	C	T	1: 39,430,290 (GRCm39)	E438K	probably benign	Het
Tdrd7	A	G	4: 45,989,102 (GRCm39)	T111A	probably benign	Het
Tg	A	T	15: 66,613,333 (GRCm39)		probably null	Het
Tlr5	T	A	1: 182,801,454 (GRCm39)	W253R	probably damaging	Het
Tmprss11c	C	T	5: 86,383,328 (GRCm39)	C353Y	probably damaging	Het
Tnfrsf8	T	A	4: 145,014,597 (GRCm39)	M271L	probably benign	Het
Toe1	T	C	4: 116,663,947 (GRCm39)	N21S	probably benign	Het
Tpp2	T	C	1: 44,014,607 (GRCm39)	F649L	probably benign	Het
Ttll1	G	A	15: 83,386,426 (GRCm39)	Q60*	probably null	Het
Vcp	C	T	4: 42,982,565 (GRCm39)	R709Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn1r195	C	A	13: 22,463,111 (GRCm39)	Q194K	probably damaging	Het
Vmn1r33	T	C	6: 66,588,783 (GRCm39)	Y257C	probably damaging	Het
Vmn2r15	A	G	5: 109,440,881 (GRCm39)	F326L	probably benign	Het
Wbp11	A	T	6: 136,793,108 (GRCm39)		probably benign	Het
Wwp2	T	G	8: 108,244,578 (GRCm39)	V250G	probably benign	Het
Xpnpep3	T	C	15: 81,315,038 (GRCm39)	V246A	probably benign	Het
Zcchc14	G	A	8: 122,332,188 (GRCm39)	R419*	probably null	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
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'- TACTGCCTAGAAGGACGAGTGACC -3'
(R):5'- GGACAATGGCTGCTGTAGGATTACC -3'

Sequencing Primer
(F):5'- TGACCAAAATTTGGAGGCATAC -3'
(R):5'- CTGTAGAAAGCGACCTAAATGTC -3'

Posted On

2013-07-11