Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Spata31e3'

275302

Institutional Source

Beutler Lab

Gene Symbol

Spata31e3

Ensembl Gene

ENSMUSG00000095300

Gene Name

spermatogenesis associated 31 subfamily E member 3

Synonyms

LOC380882, Gm906

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50399217-50404344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50399548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 926 (S926F)

Ref Sequence

ENSEMBL: ENSMUSP00000097121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099521]

AlphaFold

Q3V0M1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099521
AA Change: S926F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097121
Gene: ENSMUSG00000095300
AA Change: S926F

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
Pfam:FAM75	96	414	5.3e-15	PFAM
SCOP:d1i5pa1	811	874	1e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221451

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,508 (GRCm39)	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,203,607 (GRCm39)		probably null	Het
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abcc3	T	C	11: 94,259,446 (GRCm39)		probably null	Het
Acad10	A	T	5: 121,760,881 (GRCm39)	M941K	probably benign	Het
Agrn	A	G	4: 156,253,759 (GRCm39)	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930 (GRCm39)	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,664,635 (GRCm39)	T308S	probably benign	Het
C8b	G	T	4: 104,640,206 (GRCm39)	A170S	probably benign	Het
Cabyr	T	A	18: 12,884,747 (GRCm39)	D411E	probably benign	Het
Capn3	T	C	2: 120,314,964 (GRCm39)		probably benign	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Cflar	T	A	1: 58,774,856 (GRCm39)	Y218N	probably benign	Het
Col11a2	T	C	17: 34,273,154 (GRCm39)	Y630H	probably damaging	Het
Coq6	T	C	12: 84,419,189 (GRCm39)		probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fry	T	A	5: 150,419,884 (GRCm39)	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,245,222 (GRCm39)	S240P	probably benign	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gls	A	C	1: 52,272,147 (GRCm39)	M2R	possibly damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621 (GRCm39)	Y645*	probably null	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kat8	T	A	7: 127,523,654 (GRCm39)	D292E	possibly damaging	Het
Myo19	T	A	11: 84,776,505 (GRCm39)	C54S	probably damaging	Het
Myo5b	C	T	18: 74,794,726 (GRCm39)	H532Y	probably benign	Het
Nckap1	T	C	2: 80,370,904 (GRCm39)	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,490,752 (GRCm39)	V105M	probably benign	Het
Or2o1	A	G	11: 49,051,620 (GRCm39)	S260G	possibly damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8b1b	T	A	9: 38,375,822 (GRCm39)	C162S	probably benign	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Or8k30	T	G	2: 86,339,367 (GRCm39)	L188R	possibly damaging	Het
Palld	T	C	8: 62,162,067 (GRCm39)	D439G	probably damaging	Het
Pcf11	T	C	7: 92,308,828 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,909 (GRCm39)	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,473,283 (GRCm39)		probably null	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Pramel24	A	T	4: 143,453,255 (GRCm39)	H121L	probably benign	Het
Prom2	A	G	2: 127,377,593 (GRCm39)		probably benign	Het
Ptk7	A	G	17: 46,876,304 (GRCm39)	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Ptprm	A	G	17: 67,116,570 (GRCm39)	V894A	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sdk1	A	G	5: 141,921,804 (GRCm39)	T267A	probably benign	Het
Slco1a7	T	C	6: 141,700,100 (GRCm39)	Q144R	possibly damaging	Het
Sorcs3	T	A	19: 48,711,395 (GRCm39)	D653E	probably damaging	Het
Spata31f3	A	G	4: 42,873,492 (GRCm39)		probably null	Het
St8sia1	A	G	6: 142,774,751 (GRCm39)	L276P	probably damaging	Het
Sync	T	C	4: 129,188,156 (GRCm39)	V396A	possibly damaging	Het
Taok3	A	G	5: 117,394,002 (GRCm39)	T592A	probably benign	Het
Tas2r104	T	A	6: 131,662,002 (GRCm39)	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,636,293 (GRCm39)	I252S	probably benign	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Usp24	G	A	4: 106,236,263 (GRCm39)	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413 (GRCm39)	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,607,466 (GRCm39)	N86H	probably damaging	Het
Zfp12	T	C	5: 143,226,077 (GRCm39)	V72A	probably benign	Het

Other mutations in Spata31e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00575:Spata31e3	APN	13	50,400,752 (GRCm39)	missense	probably damaging	1.00
IGL02008:Spata31e3	APN	13	50,400,721 (GRCm39)	missense	probably benign	0.00
R0464:Spata31e3	UTSW	13	50,402,311 (GRCm39)	splice site	probably benign
R0481:Spata31e3	UTSW	13	50,401,000 (GRCm39)	missense	probably benign	0.33
R0781:Spata31e3	UTSW	13	50,402,296 (GRCm39)	missense	possibly damaging	0.70
R1110:Spata31e3	UTSW	13	50,402,296 (GRCm39)	missense	possibly damaging	0.70
R1945:Spata31e3	UTSW	13	50,399,527 (GRCm39)	missense	probably damaging	1.00
R3119:Spata31e3	UTSW	13	50,401,005 (GRCm39)	nonsense	probably null
R3861:Spata31e3	UTSW	13	50,400,887 (GRCm39)	missense	probably benign	0.00
R4256:Spata31e3	UTSW	13	50,404,141 (GRCm39)	missense	probably benign	0.18
R4607:Spata31e3	UTSW	13	50,399,542 (GRCm39)	missense	possibly damaging	0.86
R6126:Spata31e3	UTSW	13	50,400,326 (GRCm39)	missense	probably benign	0.18
R6550:Spata31e3	UTSW	13	50,399,482 (GRCm39)	missense	probably benign	0.00
R6913:Spata31e3	UTSW	13	50,399,293 (GRCm39)	missense	probably damaging	0.99
R6970:Spata31e3	UTSW	13	50,401,007 (GRCm39)	missense	possibly damaging	0.86
R7339:Spata31e3	UTSW	13	50,401,204 (GRCm39)	missense	possibly damaging	0.86
R7347:Spata31e3	UTSW	13	50,399,780 (GRCm39)	missense	probably benign	0.01
R7607:Spata31e3	UTSW	13	50,404,296 (GRCm39)	missense	possibly damaging	0.72
R7655:Spata31e3	UTSW	13	50,401,122 (GRCm39)	missense	probably benign	0.00
R7656:Spata31e3	UTSW	13	50,401,122 (GRCm39)	missense	probably benign	0.00
R7711:Spata31e3	UTSW	13	50,401,131 (GRCm39)	missense	probably benign	0.43
R7803:Spata31e3	UTSW	13	50,400,226 (GRCm39)	missense	probably benign	0.33
R8382:Spata31e3	UTSW	13	50,401,474 (GRCm39)	missense	possibly damaging	0.71
R8510:Spata31e3	UTSW	13	50,404,228 (GRCm39)	missense	probably benign	0.04
R9006:Spata31e3	UTSW	13	50,401,589 (GRCm39)	missense	possibly damaging	0.52
R9013:Spata31e3	UTSW	13	50,401,588 (GRCm39)	missense	possibly damaging	0.71
R9172:Spata31e3	UTSW	13	50,401,417 (GRCm39)	missense	probably benign	0.03
R9452:Spata31e3	UTSW	13	50,400,808 (GRCm39)	missense	possibly damaging	0.84
R9721:Spata31e3	UTSW	13	50,400,688 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCTAGAGTCAGAGGCTTGCTG -3'
(R):5'- TGCACTGAAATCCCTTGTGG -3'

Sequencing Primer
(F):5'- GCTTGCTGGGCAACAAGAC -3'
(R):5'- CCTTGTGGATGTTCTGTTCCAGATC -3'

Posted On

2015-04-02