Mutagenetix > Incidental Mutation

Incidental Mutation 'R6644:Spata31e4'

526033

Institutional Source

Beutler Lab

Gene Symbol

Spata31e4

Ensembl Gene

ENSMUSG00000094918

Gene Name

spermatogenesis associated 31 subfamily E member 4

Synonyms

Gm8765

MMRRC Submission

044765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6644 (G1)

Quality Score

89.0077

Status

Validated

Chromosome

Chromosomal Location

50852348-50857471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50856071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 570 (T570A)

Ref Sequence

ENSEMBL: ENSMUSP00000097118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099518]

AlphaFold

B7ZWJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099518
AA Change: T570A

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: T570A

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
Pfam:FAM75	95	418	1.1e-15	PFAM
SCOP:d1i5pa1	811	874	9e-3	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	T	10: 79,844,598 (GRCm39)	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,321,472 (GRCm39)	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,816,671 (GRCm39)	V772M	possibly damaging	Het
Apob	A	G	12: 8,059,077 (GRCm39)	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,007,662 (GRCm39)		probably null	Het
Cabp7	C	T	11: 4,690,396 (GRCm39)	V76I	probably benign	Het
Cbr3	A	G	16: 93,487,399 (GRCm39)	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,049,807 (GRCm39)	Q58*	probably null	Het
Cryba4	T	C	5: 112,394,628 (GRCm39)	D167G	probably damaging	Het
Czib	T	G	4: 107,752,119 (GRCm39)	I130S	probably damaging	Het
Dner	T	C	1: 84,373,428 (GRCm39)	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,147,737 (GRCm39)	I343V	probably benign	Het
Eif1ad16	A	G	12: 87,985,460 (GRCm39)	F28L	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxw17	G	A	13: 50,577,255 (GRCm39)	R49Q	probably damaging	Het
Garin2	T	A	12: 78,762,060 (GRCm39)	D241E	probably damaging	Het
Gm10332	T	A	14: 55,057,616 (GRCm39)	F59I	probably damaging	Het
Gnai3	A	G	3: 108,030,852 (GRCm39)		probably null	Het
Helz	T	A	11: 107,523,087 (GRCm39)	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 62,854,672 (GRCm39)		probably benign	Het
Ifi211	C	T	1: 173,733,118 (GRCm39)	C181Y	probably benign	Het
Immp1l	A	G	2: 105,767,390 (GRCm39)	K83R	probably damaging	Het
Itga6	G	A	2: 71,671,468 (GRCm39)	G740R	probably damaging	Het
Klhl1	T	C	14: 96,755,354 (GRCm39)	T134A	probably benign	Het
Klhl7	A	G	5: 24,354,244 (GRCm39)	D353G	probably damaging	Het
Map3k1	A	G	13: 111,888,983 (GRCm39)	S1325P	probably benign	Het
Map3k4	A	G	17: 12,451,297 (GRCm39)		probably null	Het
Meioc	G	A	11: 102,559,286 (GRCm39)		probably null	Het
Mfap5	T	C	6: 122,497,555 (GRCm39)	F26L	probably damaging	Het
Myo5a	A	G	9: 75,054,249 (GRCm39)	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,164,013 (GRCm39)	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,164,014 (GRCm39)	L1266M	probably damaging	Het
Or4c116	A	G	2: 88,942,325 (GRCm39)	M177T	probably benign	Het
Or51aa2	C	A	7: 103,188,265 (GRCm39)	V59F	possibly damaging	Het
Pbld1	T	A	10: 62,910,842 (GRCm39)	S233T	probably damaging	Het
Phf12	A	G	11: 77,916,918 (GRCm39)	*789W	probably null	Het
Sf3b2	A	T	19: 5,329,992 (GRCm39)		probably null	Het
Slc23a3	A	G	1: 75,105,191 (GRCm39)	I459T	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stard9	A	C	2: 120,526,253 (GRCm39)	M837L	probably benign	Het
Stx5a	A	T	19: 8,732,612 (GRCm39)		probably benign	Het
Tmc7	A	G	7: 118,137,385 (GRCm39)	V719A	probably benign	Het
Trank1	T	A	9: 111,193,902 (GRCm39)	I642K	possibly damaging	Het
Trim34a	T	C	7: 103,910,244 (GRCm39)	Y349H	probably damaging	Het
Uba7	A	G	9: 107,858,671 (GRCm39)	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,092,530 (GRCm39)	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,722,283 (GRCm39)	V343A	possibly damaging	Het
Zbtb37	G	A	1: 160,859,643 (GRCm39)	Q221*	probably null	Het
Zfp119b	T	C	17: 56,246,148 (GRCm39)	N346S	probably benign	Het
Zfp708	G	T	13: 67,218,785 (GRCm39)	T358K	possibly damaging	Het

Other mutations in Spata31e4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Spata31e4	APN	13	50,854,414 (GRCm39)	missense	probably benign	0.18
IGL02452:Spata31e4	APN	13	50,857,113 (GRCm39)	missense	probably damaging	0.99
IGL02610:Spata31e4	APN	13	50,855,748 (GRCm39)	missense	possibly damaging	0.91
IGL03171:Spata31e4	APN	13	50,856,388 (GRCm39)	missense	probably benign	0.23
IGL03369:Spata31e4	APN	13	50,857,200 (GRCm39)	missense	possibly damaging	0.74
PIT4382001:Spata31e4	UTSW	13	50,855,007 (GRCm39)	missense	probably damaging	0.99
R0346:Spata31e4	UTSW	13	50,857,346 (GRCm39)	missense	probably benign	0.12
R1015:Spata31e4	UTSW	13	50,855,664 (GRCm39)	missense	possibly damaging	0.92
R1054:Spata31e4	UTSW	13	50,856,432 (GRCm39)	missense	probably benign	0.01
R1102:Spata31e4	UTSW	13	50,857,118 (GRCm39)	missense	probably benign	0.00
R1519:Spata31e4	UTSW	13	50,854,443 (GRCm39)	critical splice donor site	probably null
R1628:Spata31e4	UTSW	13	50,856,324 (GRCm39)	missense	probably benign	0.25
R1754:Spata31e4	UTSW	13	50,855,123 (GRCm39)	missense	probably damaging	0.98
R4212:Spata31e4	UTSW	13	50,854,388 (GRCm39)	missense	possibly damaging	0.94
R4672:Spata31e4	UTSW	13	50,857,208 (GRCm39)	missense	probably benign
R4780:Spata31e4	UTSW	13	50,855,116 (GRCm39)	missense	probably damaging	0.97
R4794:Spata31e4	UTSW	13	50,857,275 (GRCm39)	missense	probably benign	0.07
R5171:Spata31e4	UTSW	13	50,854,414 (GRCm39)	missense	possibly damaging	0.85
R6240:Spata31e4	UTSW	13	50,855,453 (GRCm39)	missense	probably damaging	0.97
R6366:Spata31e4	UTSW	13	50,855,972 (GRCm39)	missense	probably benign	0.01
R6421:Spata31e4	UTSW	13	50,855,987 (GRCm39)	missense	probably benign	0.35
R6678:Spata31e4	UTSW	13	50,855,946 (GRCm39)	missense	probably benign	0.14
R6788:Spata31e4	UTSW	13	50,857,131 (GRCm39)	missense	probably damaging	0.99
R7030:Spata31e4	UTSW	13	50,857,019 (GRCm39)	missense	possibly damaging	0.52
R7513:Spata31e4	UTSW	13	50,856,909 (GRCm39)	missense	probably benign	0.01
R7681:Spata31e4	UTSW	13	50,856,290 (GRCm39)	missense	possibly damaging	0.70
R7753:Spata31e4	UTSW	13	50,855,817 (GRCm39)	missense	probably damaging	1.00
R7794:Spata31e4	UTSW	13	50,856,344 (GRCm39)	missense	probably damaging	0.98
R7994:Spata31e4	UTSW	13	50,856,900 (GRCm39)	missense	probably benign	0.04
R8021:Spata31e4	UTSW	13	50,855,130 (GRCm39)	missense	possibly damaging	0.50
R8858:Spata31e4	UTSW	13	50,855,423 (GRCm39)	missense	probably benign	0.07
R9027:Spata31e4	UTSW	13	50,857,007 (GRCm39)	nonsense	probably null
R9037:Spata31e4	UTSW	13	50,856,944 (GRCm39)	missense	probably benign	0.09
R9047:Spata31e4	UTSW	13	50,856,128 (GRCm39)	nonsense	probably null
R9065:Spata31e4	UTSW	13	50,856,276 (GRCm39)	missense	probably benign	0.01
R9476:Spata31e4	UTSW	13	50,856,149 (GRCm39)	missense	possibly damaging	0.70
R9495:Spata31e4	UTSW	13	50,855,465 (GRCm39)	missense	possibly damaging	0.82
R9510:Spata31e4	UTSW	13	50,856,149 (GRCm39)	missense	possibly damaging	0.70
Z1177:Spata31e4	UTSW	13	50,856,180 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCACTTCCAGAGGCTCAG -3'
(R):5'- CCCTGGGTCTGATATCGATATGC -3'

Sequencing Primer
(F):5'- ACTTCCAGAGGCTCAGGAGAC -3'
(R):5'- CGATATGCTTACCAATGTGACTC -3'

Posted On

2018-06-22