Mutagenetix > Incidental Mutation

Incidental Mutation 'R0733:Spata31e2'

67076

Institutional Source

Beutler Lab

Gene Symbol

Spata31e2

Ensembl Gene

ENSMUSG00000073722

Gene Name

spermatogenesis associated 31 subfamily E member 2

Synonyms

4931408C20Rik

MMRRC Submission

038914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26720895-26726541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26722013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1056 (T1056S)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

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

AlphaFold

E9PWP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097801
AA Change: T1056S

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: T1056S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,668,957 (GRCm39)	Y88C	probably damaging	Het
Acbd3	A	G	1: 180,579,783 (GRCm39)	I476V	possibly damaging	Het
Apba2	T	C	7: 64,399,912 (GRCm39)	I689T	probably damaging	Het
AU018091	A	G	7: 3,209,001 (GRCm39)	Y362H	probably damaging	Het
Castor2	T	C	5: 134,165,054 (GRCm39)	F208L	possibly damaging	Het
Cdh26	T	C	2: 178,128,724 (GRCm39)	S759P	probably damaging	Het
Clcc1	A	G	3: 108,582,056 (GRCm39)	Q387R	probably benign	Het
Cobl	C	T	11: 12,315,167 (GRCm39)	G259R	probably benign	Het
Col4a1	C	T	8: 11,268,934 (GRCm39)	R968Q	possibly damaging	Het
Ddr2	A	G	1: 169,832,381 (GRCm39)		probably benign	Het
Dera	C	A	6: 137,773,846 (GRCm39)	N201K	probably damaging	Het
Dsg1a	A	C	18: 20,471,725 (GRCm39)	E659A	probably damaging	Het
Dus2	G	T	8: 106,772,702 (GRCm39)		probably null	Het
Ears2	T	A	7: 121,647,352 (GRCm39)	I311F	possibly damaging	Het
Eml4	T	A	17: 83,761,893 (GRCm39)	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,213,616 (GRCm39)	M147L	probably benign	Het
Fam171a2	T	A	11: 102,330,548 (GRCm39)	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,648,921 (GRCm39)	H155Q	probably null	Het
Fem1b	G	T	9: 62,704,125 (GRCm39)	N378K	possibly damaging	Het
Fut11	C	A	14: 20,745,427 (GRCm39)	Y119*	probably null	Het
Gm6797	T	C	X: 8,511,388 (GRCm39)		noncoding transcript	Het
Gstt4	T	C	10: 75,653,148 (GRCm39)	D138G	probably benign	Het
Hprt1	G	A	X: 52,091,027 (GRCm39)	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,595,799 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,547,108 (GRCm39)	S621T	probably benign	Het
Ints6l	C	G	X: 55,550,172 (GRCm39)	A699G	probably benign	Het
Kctd3	A	G	1: 188,729,247 (GRCm39)		probably benign	Het
Kntc1	G	T	5: 123,928,979 (GRCm39)	V1252L	probably null	Het
Lama5	A	T	2: 179,822,511 (GRCm39)	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,551,113 (GRCm39)	L187F	probably damaging	Het
Lrp3	A	T	7: 34,901,545 (GRCm39)	L758M	possibly damaging	Het
Ltn1	T	A	16: 87,209,395 (GRCm39)	I740F	probably benign	Het
Mcm5	A	G	8: 75,853,876 (GRCm39)	K710R	probably benign	Het
Mllt10	A	G	2: 18,208,577 (GRCm39)		probably benign	Het
Nbr1	T	A	11: 101,467,197 (GRCm39)	M864K	probably benign	Het
Nkiras2	T	C	11: 100,515,758 (GRCm39)		probably null	Het
Nlrp4d	T	A	7: 10,116,449 (GRCm39)	E144V	probably benign	Het
Nppc	T	C	1: 86,597,356 (GRCm39)		probably benign	Het
Ormdl2	T	A	10: 128,655,868 (GRCm39)	Q94L	probably damaging	Het
Paox	G	C	7: 139,707,440 (GRCm39)	D88H	probably damaging	Het
Prl7a2	T	C	13: 27,846,671 (GRCm39)	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Prss54	T	C	8: 96,286,368 (GRCm39)	D235G	possibly damaging	Het
Rwdd3	T	C	3: 120,965,256 (GRCm39)	M24V	probably benign	Het
Serpinb6e	T	A	13: 34,025,201 (GRCm39)	N30I	probably benign	Het
Sh3rf1	G	A	8: 61,825,594 (GRCm39)	A530T	probably benign	Het
Slc28a1	T	C	7: 80,774,648 (GRCm39)	I165T	probably benign	Het
Slco6d1	T	A	1: 98,355,994 (GRCm39)	L143*	probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx27	A	G	3: 94,469,320 (GRCm39)	L7P	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
St8sia2	C	T	7: 73,610,588 (GRCm39)	G232S	probably benign	Het
Sun1	A	G	5: 139,216,918 (GRCm39)	H255R	possibly damaging	Het
Tent2	T	A	13: 93,291,547 (GRCm39)	Q365L	probably benign	Het
Ube2k	A	G	5: 65,738,795 (GRCm39)	I95V	probably damaging	Het
Ube2m	C	A	7: 12,769,679 (GRCm39)	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,169,147 (GRCm39)	M661K	probably benign	Het
Wdr47	A	T	3: 108,525,939 (GRCm39)	D154V	probably damaging	Het
Zfp113	A	G	5: 138,143,845 (GRCm39)	V135A	probably benign	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
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
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'- AGTGAATGGTTATGCATCTCAGGGC -3'
(R):5'- TGGAATCGGAGTCAAAGCACAGTC -3'

Sequencing Primer
(F):5'- ATCTCAGGGCTTATATGTGGAGAAC -3'
(R):5'- ATTGATGCCCAGAGACCCTG -3'

Posted On

2013-09-03