Mutagenetix > Incidental Mutation

Incidental Mutation 'R9137:Spata31e2'

694061

Institutional Source

Beutler Lab

Gene Symbol

Spata31e2

Ensembl Gene

ENSMUSG00000073722

Gene Name

spermatogenesis associated 31 subfamily E member 2

Synonyms

4931408C20Rik

MMRRC Submission

068932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26720895-26726541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26724715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 155 (I155N)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097801]

AlphaFold

E9PWP9

Predicted Effect

probably benign
Transcript: ENSMUST00000097801
AA Change: I155N

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: I155N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:FAM75	128	474	4.6e-28	PFAM
internal_repeat_1	939	1112	4.27e-16	PROSPERO
internal_repeat_1	1204	1376	4.27e-16	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,685,312 (GRCm39)	K299R	probably benign	Het
Abca12	T	G	1: 71,298,525 (GRCm39)	I2366L	possibly damaging	Het
Adgrv1	A	G	13: 81,688,133 (GRCm39)	V1749A	probably damaging	Het
Ano9	C	T	7: 140,684,028 (GRCm39)	V546M	probably damaging	Het
Atad5	A	T	11: 79,986,481 (GRCm39)	S523C	probably damaging	Het
Cacna1s	A	T	1: 135,996,744 (GRCm39)	D115V	possibly damaging	Het
Ccdc18	T	G	5: 108,296,856 (GRCm39)	C220G	probably damaging	Het
Cfap61	A	C	2: 146,042,685 (GRCm39)	K1153Q	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cntnap5c	T	A	17: 58,601,203 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 113,855,172 (GRCm39)	K144R	unknown	Het
Cr2	A	G	1: 194,850,640 (GRCm39)		probably null	Het
Cyp3a16	A	C	5: 145,406,413 (GRCm39)	V13G	unknown	Het
E330034G19Rik	A	G	14: 24,346,109 (GRCm39)	N72D	unknown	Het
Enah	A	G	1: 181,739,160 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,246,511 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,095,571 (GRCm39)	S487T	probably benign	Het
Gas2l2	G	A	11: 83,315,894 (GRCm39)	T275M	probably damaging	Het
Hectd4	A	G	5: 121,496,238 (GRCm39)	K3877E	possibly damaging	Het
Hhla1	G	T	15: 65,795,761 (GRCm39)	Q482K	probably damaging	Het
Hivep2	A	G	10: 14,004,712 (GRCm39)	T437A	probably benign	Het
Iars1	C	T	13: 49,855,350 (GRCm39)	T259M	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itpk1	T	C	12: 102,540,291 (GRCm39)	E264G	probably benign	Het
Katnb1	G	A	8: 95,824,320 (GRCm39)	M501I	possibly damaging	Het
Kcna10	G	A	3: 107,102,497 (GRCm39)	G376E	probably damaging	Het
Kif23	A	T	9: 61,834,713 (GRCm39)	F397I	probably damaging	Het
Klf14	A	T	6: 30,934,855 (GRCm39)	C260S	probably damaging	Het
Lgi2	T	A	5: 52,695,361 (GRCm39)	S533C	probably damaging	Het
Marveld1	A	G	19: 42,136,440 (GRCm39)	D118G	probably benign	Het
Msln	C	T	17: 25,969,084 (GRCm39)	A434T	probably benign	Het
Neb	T	C	2: 52,150,502 (GRCm39)		probably benign	Het
Nes	G	T	3: 87,878,651 (GRCm39)	G48W	probably damaging	Het
Or5k3	T	A	16: 58,969,635 (GRCm39)	C141S	probably benign	Het
Osmr	T	A	15: 6,856,709 (GRCm39)	E479D	probably benign	Het
Otop3	A	G	11: 115,235,868 (GRCm39)	H500R	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phldb3	C	T	7: 24,310,723 (GRCm39)		probably benign	Het
Ppp4r3a	T	A	12: 101,021,794 (GRCm39)	I369F	possibly damaging	Het
Rarres1	T	A	3: 67,422,801 (GRCm39)		probably benign	Het
Scn4a	A	G	11: 106,214,736 (GRCm39)	V1287A	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Sh3bp4	T	A	1: 89,072,647 (GRCm39)	C498*	probably null	Het
Smtn	T	G	11: 3,472,838 (GRCm39)	K278T	possibly damaging	Het
Sp140	T	C	1: 85,570,297 (GRCm39)	S405P	probably damaging	Het
Spem1	A	G	11: 69,712,433 (GRCm39)	V77A	probably benign	Het
St8sia2	T	G	7: 73,610,654 (GRCm39)	I210L	probably benign	Het
Stkld1	T	C	2: 26,840,572 (GRCm39)	I418T	probably benign	Het
Tpcn1	A	G	5: 120,695,990 (GRCm39)	F88L	probably damaging	Het
Trim66	C	T	7: 109,074,330 (GRCm39)	V644M	probably damaging	Het
Ttc41	T	C	10: 86,612,486 (GRCm39)	I1253T	probably benign	Het
Vmn2r86	T	C	10: 130,282,409 (GRCm39)	N736D	probably damaging	Het
Zfat	T	A	15: 68,051,794 (GRCm39)	T667S	probably benign	Het
Zfp874a	T	C	13: 67,590,841 (GRCm39)	E281G	probably damaging	Het

Other mutations in Spata31e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Spata31e2	APN	1	26,724,058 (GRCm39)	missense	probably benign	0.00
IGL00575:Spata31e2	APN	1	26,722,013 (GRCm39)	missense	possibly damaging	0.51
IGL00656:Spata31e2	APN	1	26,721,982 (GRCm39)	missense	possibly damaging	0.71
IGL00671:Spata31e2	APN	1	26,723,940 (GRCm39)	missense	possibly damaging	0.50
IGL00777:Spata31e2	APN	1	26,721,173 (GRCm39)	missense	probably damaging	1.00
IGL00824:Spata31e2	APN	1	26,722,670 (GRCm39)	missense	possibly damaging	0.48
IGL01018:Spata31e2	APN	1	26,721,991 (GRCm39)	missense	probably damaging	0.99
IGL01148:Spata31e2	APN	1	26,724,253 (GRCm39)	missense	probably benign	0.22
IGL01631:Spata31e2	APN	1	26,724,495 (GRCm39)	missense	probably damaging	0.98
IGL01901:Spata31e2	APN	1	26,721,665 (GRCm39)	missense	probably benign	0.13
IGL01957:Spata31e2	APN	1	26,724,340 (GRCm39)	missense	probably damaging	0.98
IGL02031:Spata31e2	APN	1	26,724,104 (GRCm39)	missense	probably damaging	0.99
IGL02596:Spata31e2	APN	1	26,723,083 (GRCm39)	missense	probably benign	0.00
PIT4486001:Spata31e2	UTSW	1	26,724,410 (GRCm39)	missense	probably damaging	0.99
R0026:Spata31e2	UTSW	1	26,722,450 (GRCm39)	missense	probably benign	0.00
R0026:Spata31e2	UTSW	1	26,722,450 (GRCm39)	missense	probably benign	0.00
R0043:Spata31e2	UTSW	1	26,722,883 (GRCm39)	missense	possibly damaging	0.72
R0141:Spata31e2	UTSW	1	26,722,863 (GRCm39)	missense	probably benign	0.00
R0145:Spata31e2	UTSW	1	26,726,413 (GRCm39)	missense	probably benign	0.00
R0158:Spata31e2	UTSW	1	26,723,032 (GRCm39)	missense	probably damaging	0.98
R0325:Spata31e2	UTSW	1	26,724,347 (GRCm39)	missense	possibly damaging	0.91
R0627:Spata31e2	UTSW	1	26,724,970 (GRCm39)	missense	probably benign	0.00
R0733:Spata31e2	UTSW	1	26,722,013 (GRCm39)	missense	possibly damaging	0.51
R1033:Spata31e2	UTSW	1	26,721,466 (GRCm39)	missense	probably benign
R1074:Spata31e2	UTSW	1	26,722,307 (GRCm39)	missense	probably benign	0.00
R1108:Spata31e2	UTSW	1	26,721,547 (GRCm39)	missense	possibly damaging	0.85
R1139:Spata31e2	UTSW	1	26,721,746 (GRCm39)	missense	probably benign	0.04
R1326:Spata31e2	UTSW	1	26,723,011 (GRCm39)	missense	probably damaging	1.00
R1398:Spata31e2	UTSW	1	26,724,422 (GRCm39)	missense	possibly damaging	0.82
R1422:Spata31e2	UTSW	1	26,721,547 (GRCm39)	missense	possibly damaging	0.85
R1463:Spata31e2	UTSW	1	26,721,222 (GRCm39)	nonsense	probably null
R1485:Spata31e2	UTSW	1	26,724,961 (GRCm39)	missense	possibly damaging	0.92
R1568:Spata31e2	UTSW	1	26,724,950 (GRCm39)	missense	probably benign	0.01
R1603:Spata31e2	UTSW	1	26,724,650 (GRCm39)	missense	probably damaging	0.99
R1605:Spata31e2	UTSW	1	26,723,511 (GRCm39)	missense	possibly damaging	0.92
R1795:Spata31e2	UTSW	1	26,722,070 (GRCm39)	nonsense	probably null
R1945:Spata31e2	UTSW	1	26,721,395 (GRCm39)	missense	probably benign	0.04
R1967:Spata31e2	UTSW	1	26,722,454 (GRCm39)	missense	probably benign	0.02
R2055:Spata31e2	UTSW	1	26,724,813 (GRCm39)	missense	possibly damaging	0.86
R2093:Spata31e2	UTSW	1	26,721,222 (GRCm39)	nonsense	probably null
R2131:Spata31e2	UTSW	1	26,724,935 (GRCm39)	missense	probably benign	0.11
R2237:Spata31e2	UTSW	1	26,724,241 (GRCm39)	missense	possibly damaging	0.82
R2314:Spata31e2	UTSW	1	26,723,783 (GRCm39)	missense	probably benign	0.00
R2407:Spata31e2	UTSW	1	26,721,919 (GRCm39)	missense	possibly damaging	0.86
R2993:Spata31e2	UTSW	1	26,724,909 (GRCm39)	missense	possibly damaging	0.83
R4245:Spata31e2	UTSW	1	26,721,161 (GRCm39)	missense	probably benign	0.00
R4567:Spata31e2	UTSW	1	26,722,198 (GRCm39)	missense	probably benign
R4605:Spata31e2	UTSW	1	26,722,267 (GRCm39)	missense	probably benign	0.45
R4708:Spata31e2	UTSW	1	26,723,521 (GRCm39)	missense	possibly damaging	0.92
R4827:Spata31e2	UTSW	1	26,724,923 (GRCm39)	missense	possibly damaging	0.91
R4839:Spata31e2	UTSW	1	26,724,440 (GRCm39)	missense	probably benign	0.11
R4888:Spata31e2	UTSW	1	26,722,628 (GRCm39)	missense	probably benign	0.00
R5075:Spata31e2	UTSW	1	26,722,133 (GRCm39)	missense	probably damaging	0.99
R5101:Spata31e2	UTSW	1	26,722,417 (GRCm39)	missense	possibly damaging	0.92
R5231:Spata31e2	UTSW	1	26,723,032 (GRCm39)	missense	possibly damaging	0.79
R5310:Spata31e2	UTSW	1	26,724,169 (GRCm39)	missense	probably benign	0.00
R5459:Spata31e2	UTSW	1	26,724,272 (GRCm39)	missense	probably damaging	0.96
R5520:Spata31e2	UTSW	1	26,724,900 (GRCm39)	missense	probably benign	0.00
R5608:Spata31e2	UTSW	1	26,722,129 (GRCm39)	missense	probably damaging	0.97
R5960:Spata31e2	UTSW	1	26,722,225 (GRCm39)	missense	probably benign	0.34
R6128:Spata31e2	UTSW	1	26,724,506 (GRCm39)	missense	probably benign	0.38
R6188:Spata31e2	UTSW	1	26,724,784 (GRCm39)	missense	probably damaging	0.99
R6319:Spata31e2	UTSW	1	26,724,482 (GRCm39)	missense	probably benign	0.38
R6339:Spata31e2	UTSW	1	26,721,586 (GRCm39)	missense	probably benign	0.01
R6431:Spata31e2	UTSW	1	26,723,111 (GRCm39)	missense	probably benign	0.11
R6456:Spata31e2	UTSW	1	26,724,250 (GRCm39)	missense	probably damaging	0.99
R6562:Spata31e2	UTSW	1	26,721,443 (GRCm39)	missense	possibly damaging	0.91
R6645:Spata31e2	UTSW	1	26,722,198 (GRCm39)	missense	probably benign	0.06
R6647:Spata31e2	UTSW	1	26,721,659 (GRCm39)	missense	probably damaging	0.99
R6919:Spata31e2	UTSW	1	26,722,015 (GRCm39)	missense	probably benign	0.15
R7085:Spata31e2	UTSW	1	26,722,546 (GRCm39)	missense	possibly damaging	0.95
R7183:Spata31e2	UTSW	1	26,721,914 (GRCm39)	missense	probably benign	0.27
R7347:Spata31e2	UTSW	1	26,723,548 (GRCm39)	missense	probably benign	0.02
R7488:Spata31e2	UTSW	1	26,723,039 (GRCm39)	missense	possibly damaging	0.77
R7565:Spata31e2	UTSW	1	26,724,351 (GRCm39)	missense	probably benign	0.00
R7726:Spata31e2	UTSW	1	26,723,579 (GRCm39)	missense	probably benign	0.08
R8258:Spata31e2	UTSW	1	26,721,562 (GRCm39)	missense	probably benign	0.28
R8259:Spata31e2	UTSW	1	26,721,562 (GRCm39)	missense	probably benign	0.28
R8701:Spata31e2	UTSW	1	26,724,526 (GRCm39)	missense	probably benign	0.21
R8905:Spata31e2	UTSW	1	26,721,895 (GRCm39)	missense	probably damaging	0.97
R9138:Spata31e2	UTSW	1	26,721,253 (GRCm39)	missense	possibly damaging	0.90
R9170:Spata31e2	UTSW	1	26,723,485 (GRCm39)	missense	possibly damaging	0.93
R9287:Spata31e2	UTSW	1	26,722,426 (GRCm39)	missense	possibly damaging	0.51
R9331:Spata31e2	UTSW	1	26,722,790 (GRCm39)	missense	probably benign	0.00
R9535:Spata31e2	UTSW	1	26,721,232 (GRCm39)	nonsense	probably null
R9719:Spata31e2	UTSW	1	26,722,820 (GRCm39)	missense	probably benign	0.02
X0025:Spata31e2	UTSW	1	26,721,586 (GRCm39)	missense	probably benign	0.00
X0061:Spata31e2	UTSW	1	26,721,650 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGAACTCCTGTTACACCTACCAAG -3'
(R):5'- GCTGCCAAAAGAATTCGCAG -3'

Sequencing Primer
(F):5'- CCAAGCTTGGTGTCAGAAGTTG -3'
(R):5'- TGTACCACAACCTATGGAAAGG -3'

Posted On

2022-01-20