Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Spata31h1'

510533

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82129470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1180 (N1180S)

Ref Sequence

ENSEMBL: ENSMUSP00000151425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000217661]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000217661
AA Change: N1180S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,126,344 (GRCm39)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Acaca	C	T	11: 84,183,755 (GRCm39)	T32I	probably benign	Het
Adam6a	A	T	12: 113,508,670 (GRCm39)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 132,940,469 (GRCm39)	D39G	possibly damaging	Het
Arid5b	T	C	10: 67,933,412 (GRCm39)	D587G	possibly damaging	Het
Brwd1	A	G	16: 95,809,141 (GRCm39)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,204 (GRCm39)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,907,579 (GRCm39)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,308,530 (GRCm39)	S1799L	probably damaging	Het
Cenpe	A	G	3: 134,935,936 (GRCm39)	E457G	probably benign	Het
Cmtm1	A	T	8: 105,031,795 (GRCm39)	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,198,516 (GRCm39)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm39)	M220L	probably benign	Het
Dgkg	T	G	16: 22,338,311 (GRCm39)	D592A	probably damaging	Het
Dkkl1	T	C	7: 44,860,862 (GRCm39)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,308,936 (GRCm39)	E146D	probably benign	Het
Efhc1	T	C	1: 21,049,652 (GRCm39)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,273,467 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,224,247 (GRCm39)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,232,465 (GRCm39)	V40G	probably damaging	Het
Gm3629	A	T	14: 17,834,409 (GRCm39)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,497,296 (GRCm39)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,376,506 (GRCm39)		probably null	Het
Hc	T	C	2: 34,879,851 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,861,921 (GRCm39)	S491P	probably damaging	Het
Knl1	T	A	2: 118,899,799 (GRCm39)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,319,146 (GRCm39)	T102S	probably damaging	Het
Lrrc7	A	G	3: 157,866,373 (GRCm39)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,702,071 (GRCm39)		probably null	Het
Mmp11	A	G	10: 75,759,818 (GRCm39)	*4R	probably null	Het
Myom1	A	T	17: 71,389,483 (GRCm39)	D911V	probably benign	Het
Nid1	A	G	13: 13,638,367 (GRCm39)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,052,597 (GRCm39)	V839L	probably benign	Het
Notch3	A	T	17: 32,370,128 (GRCm39)		probably null	Het
Or8k35	T	C	2: 86,424,411 (GRCm39)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 80,005,091 (GRCm39)	H978R	probably benign	Het
Pde8b	A	T	13: 95,178,508 (GRCm39)	C537*	probably null	Het
Polr1b	T	C	2: 128,967,366 (GRCm39)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,035,573 (GRCm39)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm39)	H133L	probably damaging	Het
Pou2af2	C	T	9: 51,201,481 (GRCm39)	D192N	probably damaging	Het
Ptk2b	T	A	14: 66,416,280 (GRCm39)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rlf	G	A	4: 121,005,807 (GRCm39)	R1058W	probably damaging	Het
S100z	T	A	13: 95,615,082 (GRCm39)	K28*	probably null	Het
Scarf1	T	A	11: 75,411,141 (GRCm39)	N273K	probably benign	Het
Setd2	A	G	9: 110,385,434 (GRCm39)	I136M	unknown	Het
Sfrp2	A	G	3: 83,674,291 (GRCm39)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,610,464 (GRCm39)	I112L	probably benign	Het
Smc5	A	T	19: 23,186,312 (GRCm39)	Y972*	probably null	Het
Sntg1	T	C	1: 8,515,248 (GRCm39)		probably null	Het
Stag1	A	G	9: 100,639,786 (GRCm39)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,233,192 (GRCm39)	S46P	probably damaging	Het
Synj1	C	T	16: 90,743,703 (GRCm39)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,732,410 (GRCm39)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,721,341 (GRCm39)		probably null	Het
Tchh	C	A	3: 93,355,158 (GRCm39)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,759,058 (GRCm39)	T887A	probably benign	Het
Ttn	T	C	2: 76,536,937 (GRCm39)	I34963V	probably benign	Het
Unc79	G	A	12: 103,078,878 (GRCm39)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm39)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,602,867 (GRCm39)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,810,854 (GRCm39)	N337K	probably benign	Het
Zfp260	T	A	7: 29,804,267 (GRCm39)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,440,746 (GRCm39)	E610K	probably damaging	Het

Other mutations in Spata31h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Spata31h1	APN	10	82,119,586 (GRCm39)	missense	probably benign	0.06
IGL01457:Spata31h1	APN	10	82,120,568 (GRCm39)	missense	probably damaging	1.00
IGL01540:Spata31h1	APN	10	82,120,016 (GRCm39)	missense	possibly damaging	0.87
IGL02693:Spata31h1	APN	10	82,121,092 (GRCm39)	missense	probably benign	0.06
IGL02867:Spata31h1	APN	10	82,119,654 (GRCm39)	missense	probably damaging	0.96
IGL02889:Spata31h1	APN	10	82,119,654 (GRCm39)	missense	probably damaging	0.96
IGL03080:Spata31h1	APN	10	82,119,816 (GRCm39)	missense	probably damaging	0.99
IGL03120:Spata31h1	APN	10	82,120,869 (GRCm39)	missense	possibly damaging	0.90
IGL03351:Spata31h1	APN	10	82,119,401 (GRCm39)	utr 3 prime	probably benign
FR4449:Spata31h1	UTSW	10	82,121,303 (GRCm39)	frame shift	probably null
FR4548:Spata31h1	UTSW	10	82,126,830 (GRCm39)	small insertion	probably benign
FR4737:Spata31h1	UTSW	10	82,121,303 (GRCm39)	small deletion	probably benign
PIT4480001:Spata31h1	UTSW	10	82,119,586 (GRCm39)	missense	probably benign	0.06
R0102:Spata31h1	UTSW	10	82,119,390 (GRCm39)	missense	probably damaging	1.00
R0312:Spata31h1	UTSW	10	82,120,203 (GRCm39)	missense	probably damaging	1.00
R1303:Spata31h1	UTSW	10	82,120,390 (GRCm39)	missense	possibly damaging	0.94
R2039:Spata31h1	UTSW	10	82,120,510 (GRCm39)	missense	probably damaging	1.00
R2356:Spata31h1	UTSW	10	82,119,789 (GRCm39)	missense	possibly damaging	0.94
R4740:Spata31h1	UTSW	10	82,119,481 (GRCm39)	missense	possibly damaging	0.50
R4857:Spata31h1	UTSW	10	82,119,682 (GRCm39)	missense	possibly damaging	0.61
R5017:Spata31h1	UTSW	10	82,132,510 (GRCm39)	missense	unknown
R5095:Spata31h1	UTSW	10	82,119,501 (GRCm39)	missense	probably damaging	1.00
R5209:Spata31h1	UTSW	10	82,119,652 (GRCm39)	missense	possibly damaging	0.84
R5388:Spata31h1	UTSW	10	82,119,561 (GRCm39)	missense	probably damaging	0.99
R5642:Spata31h1	UTSW	10	82,120,317 (GRCm39)	missense	probably damaging	1.00
R5646:Spata31h1	UTSW	10	82,119,610 (GRCm39)	missense	probably damaging	0.99
R6188:Spata31h1	UTSW	10	82,121,091 (GRCm39)	missense	probably damaging	0.96
R6215:Spata31h1	UTSW	10	82,126,946 (GRCm39)	missense	probably benign	0.07
R6252:Spata31h1	UTSW	10	82,119,588 (GRCm39)	missense	probably benign	0.30
R6275:Spata31h1	UTSW	10	82,121,202 (GRCm39)	missense	probably damaging	1.00
R6303:Spata31h1	UTSW	10	82,126,202 (GRCm39)	missense	possibly damaging	0.79
R6304:Spata31h1	UTSW	10	82,126,202 (GRCm39)	missense	possibly damaging	0.79
R6323:Spata31h1	UTSW	10	82,118,916 (GRCm39)	missense	probably benign	0.27
R6374:Spata31h1	UTSW	10	82,124,731 (GRCm39)	unclassified	probably benign
R6407:Spata31h1	UTSW	10	82,129,645 (GRCm39)	missense	probably benign	0.16
R6468:Spata31h1	UTSW	10	82,131,150 (GRCm39)	missense	probably benign	0.01
R6490:Spata31h1	UTSW	10	82,125,138 (GRCm39)	missense	possibly damaging	0.90
R6605:Spata31h1	UTSW	10	82,131,871 (GRCm39)	missense	probably benign	0.27
R6614:Spata31h1	UTSW	10	82,127,482 (GRCm39)	missense	probably benign	0.31
R6626:Spata31h1	UTSW	10	82,128,667 (GRCm39)	missense	probably benign	0.03
R6630:Spata31h1	UTSW	10	82,122,906 (GRCm39)	missense	possibly damaging	0.81
R6646:Spata31h1	UTSW	10	82,132,664 (GRCm39)	missense	unknown
R6723:Spata31h1	UTSW	10	82,125,657 (GRCm39)	missense	possibly damaging	0.50
R6751:Spata31h1	UTSW	10	82,119,331 (GRCm39)	missense	probably benign	0.06
R6850:Spata31h1	UTSW	10	82,128,888 (GRCm39)	missense	possibly damaging	0.68
R6944:Spata31h1	UTSW	10	82,132,056 (GRCm39)	missense	probably benign	0.03
R6957:Spata31h1	UTSW	10	82,129,620 (GRCm39)	missense	probably benign	0.03
R6988:Spata31h1	UTSW	10	82,127,733 (GRCm39)	missense	possibly damaging	0.79
R7069:Spata31h1	UTSW	10	82,125,777 (GRCm39)	missense	probably damaging	0.99
R7164:Spata31h1	UTSW	10	82,122,063 (GRCm39)	missense	probably damaging	1.00
R7175:Spata31h1	UTSW	10	82,122,583 (GRCm39)	missense	probably damaging	1.00
R7201:Spata31h1	UTSW	10	82,127,461 (GRCm39)	missense	probably benign	0.03
R7203:Spata31h1	UTSW	10	82,129,248 (GRCm39)	missense	probably benign	0.00
R7205:Spata31h1	UTSW	10	82,125,161 (GRCm39)	missense	probably benign	0.35
R7241:Spata31h1	UTSW	10	82,122,876 (GRCm39)	missense	probably benign	0.01
R7283:Spata31h1	UTSW	10	82,127,131 (GRCm39)	missense	possibly damaging	0.90
R7305:Spata31h1	UTSW	10	82,120,953 (GRCm39)	missense	probably benign	0.06
R7358:Spata31h1	UTSW	10	82,127,847 (GRCm39)	missense	possibly damaging	0.79
R7360:Spata31h1	UTSW	10	82,132,341 (GRCm39)	missense	unknown
R7362:Spata31h1	UTSW	10	82,128,831 (GRCm39)	missense	possibly damaging	0.79
R7385:Spata31h1	UTSW	10	82,123,729 (GRCm39)	missense	probably benign	0.05
R7385:Spata31h1	UTSW	10	82,123,571 (GRCm39)	missense	probably benign	0.03
R7472:Spata31h1	UTSW	10	82,119,421 (GRCm39)	missense	probably benign	0.03
R7493:Spata31h1	UTSW	10	82,152,264 (GRCm39)	missense	unknown
R7493:Spata31h1	UTSW	10	82,124,798 (GRCm39)	nonsense	probably null
R7498:Spata31h1	UTSW	10	82,127,113 (GRCm39)	missense	probably benign	0.03
R7512:Spata31h1	UTSW	10	82,128,469 (GRCm39)	missense	probably benign	0.31
R7560:Spata31h1	UTSW	10	82,120,449 (GRCm39)	missense	probably damaging	1.00
R7591:Spata31h1	UTSW	10	82,128,046 (GRCm39)	missense	probably benign	0.16
R7636:Spata31h1	UTSW	10	82,130,973 (GRCm39)	missense	probably benign	0.01
R7640:Spata31h1	UTSW	10	82,130,490 (GRCm39)	missense	probably damaging	0.99
R7709:Spata31h1	UTSW	10	82,126,366 (GRCm39)	missense	possibly damaging	0.81
R7790:Spata31h1	UTSW	10	82,123,329 (GRCm39)	missense	probably benign	0.06
R7875:Spata31h1	UTSW	10	82,123,456 (GRCm39)	missense	possibly damaging	0.79
R7878:Spata31h1	UTSW	10	82,119,856 (GRCm39)	missense	probably benign	0.04
R7899:Spata31h1	UTSW	10	82,118,731 (GRCm39)	missense	unknown
R7905:Spata31h1	UTSW	10	82,131,936 (GRCm39)	missense	probably benign	0.03
R7975:Spata31h1	UTSW	10	82,119,823 (GRCm39)	missense	possibly damaging	0.95
R7988:Spata31h1	UTSW	10	82,131,934 (GRCm39)	missense	probably benign	0.03
R8076:Spata31h1	UTSW	10	82,132,520 (GRCm39)	nonsense	probably null
R8144:Spata31h1	UTSW	10	82,130,433 (GRCm39)	nonsense	probably null
R8429:Spata31h1	UTSW	10	82,125,301 (GRCm39)	missense	possibly damaging	0.62
R8465:Spata31h1	UTSW	10	82,152,298 (GRCm39)	missense	possibly damaging	0.52
R8470:Spata31h1	UTSW	10	82,126,314 (GRCm39)	missense	probably damaging	1.00
R8509:Spata31h1	UTSW	10	82,126,950 (GRCm39)	missense	probably benign	0.01
R8515:Spata31h1	UTSW	10	82,124,436 (GRCm39)	missense	probably benign	0.00
R8672:Spata31h1	UTSW	10	82,127,726 (GRCm39)	missense	probably benign	0.01
R8700:Spata31h1	UTSW	10	82,127,859 (GRCm39)	missense	possibly damaging	0.84
R8827:Spata31h1	UTSW	10	82,129,617 (GRCm39)	missense	probably benign	0.07
R8872:Spata31h1	UTSW	10	82,128,619 (GRCm39)	missense	probably benign	0.07
R8875:Spata31h1	UTSW	10	82,123,476 (GRCm39)	missense	probably benign	0.16
R8884:Spata31h1	UTSW	10	82,119,486 (GRCm39)	missense	probably damaging	0.96
R8906:Spata31h1	UTSW	10	82,122,379 (GRCm39)	missense	probably benign	0.02
R8924:Spata31h1	UTSW	10	82,131,295 (GRCm39)	missense	probably benign	0.03
R8949:Spata31h1	UTSW	10	82,123,753 (GRCm39)	missense	probably benign	0.00
R8957:Spata31h1	UTSW	10	82,124,908 (GRCm39)	missense	probably benign	0.07
R9042:Spata31h1	UTSW	10	82,123,185 (GRCm39)	missense	probably benign	0.08
R9056:Spata31h1	UTSW	10	82,127,101 (GRCm39)	missense	probably benign	0.01
R9062:Spata31h1	UTSW	10	82,126,945 (GRCm39)	missense	probably benign	0.03
R9074:Spata31h1	UTSW	10	82,123,894 (GRCm39)	missense	possibly damaging	0.90
R9086:Spata31h1	UTSW	10	82,124,577 (GRCm39)	missense	probably benign	0.07
R9113:Spata31h1	UTSW	10	82,131,352 (GRCm39)	nonsense	probably null
R9119:Spata31h1	UTSW	10	82,131,553 (GRCm39)	missense	probably benign	0.03
R9132:Spata31h1	UTSW	10	82,127,896 (GRCm39)	missense	possibly damaging	0.85
R9141:Spata31h1	UTSW	10	82,126,610 (GRCm39)	missense	probably damaging	0.98
R9151:Spata31h1	UTSW	10	82,120,928 (GRCm39)	missense	probably damaging	0.99
R9155:Spata31h1	UTSW	10	82,120,203 (GRCm39)	missense	probably damaging	1.00
R9159:Spata31h1	UTSW	10	82,118,524 (GRCm39)	nonsense	probably null
R9197:Spata31h1	UTSW	10	82,120,401 (GRCm39)	missense	possibly damaging	0.88
R9212:Spata31h1	UTSW	10	82,118,979 (GRCm39)	missense	possibly damaging	0.88
R9245:Spata31h1	UTSW	10	82,123,554 (GRCm39)	missense	probably benign	0.10
R9304:Spata31h1	UTSW	10	82,131,930 (GRCm39)	missense	probably benign	0.07
R9309:Spata31h1	UTSW	10	82,130,986 (GRCm39)	missense	probably benign	0.00
R9329:Spata31h1	UTSW	10	82,121,439 (GRCm39)	missense	probably benign	0.06
R9356:Spata31h1	UTSW	10	82,125,157 (GRCm39)	missense	possibly damaging	0.54
R9423:Spata31h1	UTSW	10	82,123,459 (GRCm39)	missense	possibly damaging	0.62
R9426:Spata31h1	UTSW	10	82,126,610 (GRCm39)	missense	probably damaging	0.98
R9457:Spata31h1	UTSW	10	82,122,573 (GRCm39)	missense	probably benign	0.02
R9509:Spata31h1	UTSW	10	82,132,229 (GRCm39)	missense	probably benign	0.03
R9612:Spata31h1	UTSW	10	82,125,453 (GRCm39)	missense	possibly damaging	0.55
R9674:Spata31h1	UTSW	10	82,120,030 (GRCm39)	missense	possibly damaging	0.69
R9726:Spata31h1	UTSW	10	82,118,605 (GRCm39)	missense	unknown
RF017:Spata31h1	UTSW	10	82,126,826 (GRCm39)	small insertion	probably benign
RF055:Spata31h1	UTSW	10	82,126,827 (GRCm39)	small insertion	probably benign
Z1176:Spata31h1	UTSW	10	82,129,062 (GRCm39)	missense	probably benign	0.03
Z1176:Spata31h1	UTSW	10	82,125,730 (GRCm39)	missense	possibly damaging	0.94
Z1176:Spata31h1	UTSW	10	82,118,371 (GRCm39)	missense	unknown
Z1177:Spata31h1	UTSW	10	82,123,251 (GRCm39)	missense	probably damaging	0.99
Z1177:Spata31h1	UTSW	10	82,122,960 (GRCm39)	missense	possibly damaging	0.85
Z1177:Spata31h1	UTSW	10	82,121,632 (GRCm39)	missense	possibly damaging	0.46
Z1177:Spata31h1	UTSW	10	82,125,520 (GRCm39)	nonsense	probably null
Z1187:Spata31h1	UTSW	10	82,124,390 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAAACCATGGTGCTTGGG -3'
(R):5'- AGAGTTTGTCACCAAAGGAGTC -3'

Sequencing Primer
(F):5'- GTTTGGGGATCGAATCAGAAAATCTC -3'
(R):5'- TTGTCACCAAAGGAGTCAGTTG -3'

Posted On

2018-04-02