Mutagenetix > Incidental Mutation

Incidental Mutation 'R6319:Spata31e2'

509321

Institutional Source

Beutler Lab

Gene Symbol

Spata31e2

Ensembl Gene

ENSMUSG00000073722

Gene Name

spermatogenesis associated 31 subfamily E member 2

Synonyms

4931408C20Rik

MMRRC Submission

044474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26720895-26726541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26724482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 233 (R233C)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

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

AlphaFold

E9PWP9

Predicted Effect

probably benign
Transcript: ENSMUST00000097801
AA Change: R233C

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: R233C

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: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,651,723 (GRCm39)	S372P	probably benign	Het
Adam34	A	G	8: 44,104,952 (GRCm39)	I231T	probably benign	Het
Adgrg6	T	A	10: 14,307,366 (GRCm39)	H840L	probably damaging	Het
Akap11	T	C	14: 78,750,978 (GRCm39)	T470A	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
B430306N03Rik	A	T	17: 48,623,771 (GRCm39)	Q24L	probably damaging	Het
Bmp6	A	T	13: 38,530,390 (GRCm39)	H161L	probably benign	Het
Cdca8	C	A	4: 124,815,087 (GRCm39)	D177Y	possibly damaging	Het
Col14a1	A	G	15: 55,379,565 (GRCm39)	T1693A	probably damaging	Het
Cpsf1	A	G	15: 76,481,167 (GRCm39)	S1230P	probably damaging	Het
Dcaf13	A	G	15: 39,007,067 (GRCm39)	T334A	probably benign	Het
Dhx32	A	C	7: 133,338,955 (GRCm39)	V360G	probably damaging	Het
Dmxl1	A	G	18: 49,985,367 (GRCm39)	T205A	probably benign	Het
Dxo	A	G	17: 35,057,367 (GRCm39)	E253G	probably damaging	Het
Enpp1	T	C	10: 24,523,929 (GRCm39)	Y747C	probably damaging	Het
Gga2	T	C	7: 121,601,389 (GRCm39)	E238G	possibly damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Grik4	A	T	9: 42,477,632 (GRCm39)	M518K	probably damaging	Het
Igf2r	T	A	17: 12,933,000 (GRCm39)	S841C	probably damaging	Het
Itfg1	G	T	8: 86,567,258 (GRCm39)	T37K	probably damaging	Het
Kcnn4	T	A	7: 24,081,165 (GRCm39)	M301K	possibly damaging	Het
Kel	C	A	6: 41,679,381 (GRCm39)	E127D	probably benign	Het
Lrp4	A	G	2: 91,310,666 (GRCm39)	Y569C	probably damaging	Het
Lrp6	A	T	6: 134,518,798 (GRCm39)	V89D	possibly damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Mnd1	A	G	3: 84,049,071 (GRCm39)	S2P	possibly damaging	Het
Neb	T	A	2: 52,053,023 (GRCm39)		probably null	Het
Or51af1	T	C	7: 103,141,932 (GRCm39)	E51G	possibly damaging	Het
Or5h23	A	G	16: 58,906,384 (GRCm39)	I154T	probably benign	Het
Or8g17	A	G	9: 38,930,810 (GRCm39)	V9A	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Plekhm3	A	T	1: 64,961,093 (GRCm39)	Y388N	probably benign	Het
Prr18	G	T	17: 8,560,143 (GRCm39)	V100F	probably damaging	Het
Rnf25	T	C	1: 74,634,890 (GRCm39)	Y44C	probably damaging	Het
Smg6	T	C	11: 75,047,048 (GRCm39)	L1247P	probably damaging	Het
Tdh	T	C	14: 63,733,186 (GRCm39)	T137A	probably benign	Het
Tmem200a	A	G	10: 25,869,393 (GRCm39)	V292A	probably damaging	Het
Ubr3	T	C	2: 69,803,758 (GRCm39)	V1116A	probably benign	Het
Ubr4	G	A	4: 139,136,200 (GRCm39)	E942K	possibly damaging	Het
Unc5b	G	A	10: 60,614,580 (GRCm39)	A239V	probably damaging	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Vmn2r115	A	G	17: 23,566,877 (GRCm39)	E463G	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
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'- TGATAGTTTTAACAGGCAGGGTGC -3'
(R):5'- TCCTCCTCAGGGCATAAATCTG -3'

Sequencing Primer
(F):5'- TGCCCCTGGACGAGTTG -3'
(R):5'- TCCTCAGGGCATAAATCTGTCAGG -3'

Posted On

2018-04-02