Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Spata31e2'

95195

Institutional Source

Beutler Lab

Gene Symbol

Spata31e2

Ensembl Gene

ENSMUSG00000073722

Gene Name

spermatogenesis associated 31 subfamily E member 2

Synonyms

4931408C20Rik

MMRRC Submission

039132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26720895-26726541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26721466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1238 (P1238L)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

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

AlphaFold

E9PWP9

Predicted Effect

probably benign
Transcript: ENSMUST00000097801
AA Change: P1238L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: P1238L

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Akap6	A	C	12: 53,116,005 (GRCm39)	D1036A	probably damaging	Het
Alg6	T	C	4: 99,650,270 (GRCm39)	S497P	probably benign	Het
Arhgap10	T	A	8: 77,983,976 (GRCm39)	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,878,555 (GRCm39)	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,770,849 (GRCm39)		probably null	Het
Card14	T	A	11: 119,229,196 (GRCm39)	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,454,077 (GRCm39)	R32*	probably null	Het
Cdh20	A	T	1: 110,012,783 (GRCm39)	D372V	probably damaging	Het
Cfap54	A	T	10: 92,675,311 (GRCm39)	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,950 (GRCm39)	V100F	probably damaging	Het
Dapk1	T	C	13: 60,869,679 (GRCm39)		probably null	Het
Exoc4	G	A	6: 33,242,922 (GRCm39)	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440 (GRCm39)	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236 (GRCm39)	C97S	probably damaging	Het
Frem3	A	T	8: 81,421,786 (GRCm39)	H2062L	probably benign	Het
Frk	T	C	10: 34,484,454 (GRCm39)	C476R	probably damaging	Het
Gm10542	A	G	18: 44,337,668 (GRCm39)	T49A	probably benign	Het
Gm128	A	G	3: 95,147,322 (GRCm39)	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,935,880 (GRCm39)	M298I	probably benign	Het
Gxylt1	T	C	15: 93,142,958 (GRCm39)	E369G	probably benign	Het
Hpse2	A	G	19: 42,901,638 (GRCm39)	V368A	probably benign	Het
Ice1	A	T	13: 70,754,713 (GRCm39)	S458T	probably damaging	Het
Itgb7	T	A	15: 102,131,989 (GRCm39)	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,484,929 (GRCm39)	V72A	possibly damaging	Het
Magel2	A	G	7: 62,029,798 (GRCm39)	M901V	unknown	Het
Mgam	A	T	6: 40,657,558 (GRCm39)	Y971F	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mug1	A	T	6: 121,857,510 (GRCm39)	D1078V	probably damaging	Het
Myom2	G	A	8: 15,158,934 (GRCm39)	R870H	probably benign	Het
Nek8	A	T	11: 78,062,111 (GRCm39)	L71Q	probably null	Het
Nox4	T	A	7: 87,023,621 (GRCm39)	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054 (GRCm39)	P73S	probably damaging	Het
Nup205	C	T	6: 35,204,377 (GRCm39)	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or1p1	A	C	11: 74,179,492 (GRCm39)	T7P	probably damaging	Het
Or3a1	A	C	11: 74,225,462 (GRCm39)	N198K	possibly damaging	Het
Or4k38	A	T	2: 111,166,147 (GRCm39)	I92N	probably damaging	Het
Or5al7	A	G	2: 85,993,194 (GRCm39)	I33T	possibly damaging	Het
Pals2	T	C	6: 50,160,716 (GRCm39)	Y326H	probably damaging	Het
Prkdc	T	C	16: 15,585,815 (GRCm39)	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,506,252 (GRCm39)	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,875,762 (GRCm39)	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535 (GRCm39)	S1333P	probably benign	Het
Rpl7	A	G	1: 16,172,728 (GRCm39)	I197T	probably benign	Het
Sar1a	C	A	10: 61,521,395 (GRCm39)	Q81K	probably damaging	Het
Shank1	A	T	7: 44,006,220 (GRCm39)	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,154,889 (GRCm39)	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,313,165 (GRCm39)	Q436*	probably null	Het
Speer4a2	T	C	5: 26,294,125 (GRCm39)	K18E	probably benign	Het
Szt2	C	T	4: 118,244,303 (GRCm39)	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,427,186 (GRCm39)	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,580,060 (GRCm39)	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,248,014 (GRCm39)	D419G	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
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
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'- CTCTAAGGACAATGCCTGGTTGCTC -3'
(R):5'- AATGGCCTTTGACAACCTCCTCAC -3'

Sequencing Primer
(F):5'- GTGTACAGCCAGCCATTCC -3'
(R):5'- TCCTAAGAACAACCATTCATGTCAG -3'

Posted On

2014-01-05