Mutagenetix > Incidental Mutation

Incidental Mutation 'R6456:Spata31e2'

520141

Institutional Source

Beutler Lab

Gene Symbol

Spata31e2

Ensembl Gene

ENSMUSG00000073722

Gene Name

spermatogenesis associated 31 subfamily E member 2

Synonyms

4931408C20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26720895-26726541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26724250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 310 (H310L)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

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

AlphaFold

E9PWP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000097801
AA Change: H310L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: H310L

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,240,474 (GRCm39)	H779L	possibly damaging	Het
Abca7	T	C	10: 79,850,984 (GRCm39)	V2097A	probably null	Het
Adam8	A	G	7: 139,566,701 (GRCm39)	S524P	possibly damaging	Het
Anapc2	T	C	2: 25,170,207 (GRCm39)	M575T	probably damaging	Het
Arhgap42	T	A	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
AU040320	A	G	4: 126,736,284 (GRCm39)	N789S	probably benign	Het
Bmi1	A	G	2: 18,687,058 (GRCm39)	Y46C	probably damaging	Het
Brd10	G	A	19: 29,693,914 (GRCm39)	P1860S	possibly damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cd180	C	T	13: 102,839,344 (GRCm39)	L76F	probably damaging	Het
Cep135	T	C	5: 76,739,571 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,822,676 (GRCm39)	T227I	unknown	Het
Cyp4a29	G	T	4: 115,108,381 (GRCm39)	M368I	probably benign	Het
Ddx28	T	A	8: 106,737,000 (GRCm39)	I353F	possibly damaging	Het
Dhx40	G	A	11: 86,675,800 (GRCm39)	T198M	probably damaging	Het
Dnai4	A	C	4: 102,906,746 (GRCm39)	M689R	probably benign	Het
Dync2i2	T	C	2: 29,922,779 (GRCm39)	S323G	probably benign	Het
Fat4	G	A	3: 39,038,128 (GRCm39)	V3927M	possibly damaging	Het
Garin1b	A	G	6: 29,334,045 (GRCm39)	N299S	probably benign	Het
Gm10226	G	T	17: 21,910,932 (GRCm39)	G56*	probably null	Het
H2-T15	A	T	17: 36,367,502 (GRCm39)	Y279N	probably damaging	Het
Itsn2	T	G	12: 4,679,923 (GRCm39)		probably benign	Het
Lrrc8a	A	G	2: 30,145,486 (GRCm39)	D100G	probably benign	Het
Madd	T	C	2: 91,008,536 (GRCm39)	H122R	probably benign	Het
Mfsd4b3-ps	C	G	10: 39,823,316 (GRCm39)	V315L	probably benign	Het
Mki67	C	G	7: 135,301,204 (GRCm39)	A1277P	possibly damaging	Het
Nlrp9b	T	A	7: 19,782,703 (GRCm39)	N872K	probably damaging	Het
Npas1	T	C	7: 16,195,851 (GRCm39)	T274A	probably benign	Het
Nrm	A	T	17: 36,176,292 (GRCm39)		probably null	Het
Or10j2	A	T	1: 173,098,105 (GRCm39)	D121V	probably damaging	Het
Pdilt	T	A	7: 119,099,706 (GRCm39)	L187F	probably damaging	Het
Pkdcc	T	C	17: 83,527,548 (GRCm39)	I242T	probably damaging	Het
Plch2	C	A	4: 155,077,459 (GRCm39)	D535Y	probably damaging	Het
Pmpca	T	A	2: 26,285,179 (GRCm39)	I468N	probably damaging	Het
Prpf4	T	C	4: 62,332,869 (GRCm39)		probably null	Het
Rcc1	A	G	4: 132,061,427 (GRCm39)	S361P	probably benign	Het
Rigi	T	A	4: 40,213,838 (GRCm39)	N607Y	possibly damaging	Het
Rnf213	A	G	11: 119,350,792 (GRCm39)	I3876V	probably benign	Het
Sall2	T	A	14: 52,551,050 (GRCm39)	Q715L	probably damaging	Het
Sall2	G	A	14: 52,551,051 (GRCm39)	Q713*	probably null	Het
Sin3a	A	G	9: 57,020,985 (GRCm39)	S1004G	possibly damaging	Het
Sltm	C	T	9: 70,450,269 (GRCm39)	T23M	probably damaging	Het
Sspo	A	G	6: 48,428,740 (GRCm39)	E385G	probably benign	Het
Syne3	G	T	12: 104,906,963 (GRCm39)	R775S	possibly damaging	Het
Szt2	A	T	4: 118,233,894 (GRCm39)		probably benign	Het
Tlk2	T	C	11: 105,112,099 (GRCm39)	S151P	probably benign	Het
Trabd2b	C	T	4: 114,443,757 (GRCm39)	R305C	probably damaging	Het
Ttc21b	T	C	2: 66,018,675 (GRCm39)	Q1244R	probably damaging	Het
Vmn2r125	A	G	4: 156,703,357 (GRCm39)	N245S	probably benign	Het
Wdr64	G	A	1: 175,613,175 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly 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
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
R9137:Spata31e2	UTSW	1	26,724,715 (GRCm39)	missense	probably benign	0.13
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'- CTGGCTCAACTTGTAGCTTTTG -3'
(R):5'- CTGCTGAGGTAGGGATACAGAC -3'

Sequencing Primer
(F):5'- TTGAGGATAGAGGGCTGGCC -3'
(R):5'- GGATACAGACATCCCTTCCAAATG -3'

Posted On

2018-06-06