Mutagenetix > Incidental Mutation

Incidental Mutation 'R9074:Spata31h1'

689681

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

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

Stock #

R9074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82123894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 3039 (S3039C)

Ref Sequence

ENSEMBL: ENSMUSP00000151425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171401] [ENSMUST00000217661]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000171401

SMART Domains

Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	241	263	N/A	INTRINSIC
low complexity region	387	405	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217661
AA Change: S3039C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,972,257 (GRCm39)		silent	Het
Ackr2	T	A	9: 121,737,729 (GRCm39)	C35S	probably damaging	Het
Adcy8	T	A	15: 64,573,940 (GRCm39)	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,601,879 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,127,959 (GRCm39)	I3765K	probably benign	Het
Brwd1	A	T	16: 95,824,610 (GRCm39)	F1219I		Het
Btc	A	T	5: 91,508,603 (GRCm39)		probably null	Het
Cd163	C	T	6: 124,285,947 (GRCm39)	R166*	probably null	Het
Cfap52	G	A	11: 67,822,656 (GRCm39)	S405L	probably benign	Het
Clcn2	A	G	16: 20,531,414 (GRCm39)	L210P	possibly damaging	Het
Creb3l3	T	A	10: 80,924,452 (GRCm39)		probably null	Het
Csn1s2a	A	T	5: 87,934,458 (GRCm39)	I144F	probably benign	Het
Dedd	G	T	1: 171,167,888 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,491,124 (GRCm39)	R537C	probably damaging	Het
Epas1	A	T	17: 87,135,267 (GRCm39)	R633S	probably benign	Het
Fmn2	C	A	1: 174,436,198 (GRCm39)	T723N	unknown	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Ggcx	T	G	6: 72,402,924 (GRCm39)	F294C	probably damaging	Het
Ghr	G	A	15: 3,370,470 (GRCm39)	P132S	possibly damaging	Het
Gm15446	A	T	5: 110,091,299 (GRCm39)	H517L	probably damaging	Het
Gm5862	T	C	5: 26,226,624 (GRCm39)	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797 (GRCm39)	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795 (GRCm39)	C1817R	probably damaging	Het
Ier5	C	A	1: 154,974,275 (GRCm39)	W301L	probably damaging	Het
Irf2bp2	A	G	8: 127,318,456 (GRCm39)	L370P	probably benign	Het
Itga9	T	A	9: 118,636,344 (GRCm39)	N677K	probably damaging	Het
Itgb7	G	T	15: 102,132,797 (GRCm39)	R172S		Het
Kdm6b	A	T	11: 69,292,977 (GRCm39)	C1266*	probably null	Het
Kmt2c	A	T	5: 25,489,343 (GRCm39)	V4532E	probably damaging	Het
Kprp	A	C	3: 92,732,226 (GRCm39)	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,595 (GRCm39)	V7L	probably damaging	Het
Map3k21	G	A	8: 126,664,050 (GRCm39)	R537H	probably damaging	Het
Mchr1	T	G	15: 81,119,980 (GRCm39)	D2E	probably benign	Het
Mixl1	T	C	1: 180,522,245 (GRCm39)	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717 (GRCm39)	T24A	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip5	T	C	13: 100,358,264 (GRCm39)	K991E	possibly damaging	Het
Ndufb11b	T	A	15: 81,865,011 (GRCm39)	M84K	probably damaging	Het
Nfe2l1	G	A	11: 96,710,573 (GRCm39)	A552V	possibly damaging	Het
Or2p2	C	T	13: 21,256,784 (GRCm39)	R229H	possibly damaging	Het
Or51r1	T	G	7: 102,228,433 (GRCm39)	S244A	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pds5a	A	G	5: 65,804,479 (GRCm39)	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,043,351 (GRCm39)	V233E	probably damaging	Het
Pias1	T	C	9: 62,888,164 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,556,246 (GRCm39)	W72R	unknown	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Proc	A	G	18: 32,268,950 (GRCm39)	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,823 (GRCm39)	Q23L	probably damaging	Het
Slc22a8	A	G	19: 8,587,025 (GRCm39)	E406G	possibly damaging	Het
Slc2a7	A	G	4: 150,242,625 (GRCm39)	T238A	probably benign	Het
Spp1	A	G	5: 104,588,167 (GRCm39)	I190V	probably benign	Het
Srgap1	T	C	10: 121,628,257 (GRCm39)	D882G	probably damaging	Het
Ssrp1	T	A	2: 84,875,811 (GRCm39)	W557R	probably damaging	Het
Strn	C	G	17: 79,043,790 (GRCm39)	A43P	probably benign	Het
Taf6	A	C	5: 138,180,465 (GRCm39)	Y300D	probably damaging	Het
Tesk2	A	G	4: 116,658,933 (GRCm39)	Y270C	probably damaging	Het
Tnnt3	T	A	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Ubl7	A	G	9: 57,826,637 (GRCm39)	H117R	possibly damaging	Het
Vcan	T	A	13: 89,839,146 (GRCm39)	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,543,917 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,125,902 (GRCm39)	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,615,403 (GRCm39)	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,611,496 (GRCm39)	S283P	probably damaging	Het
Zfp956	C	T	6: 47,939,462 (GRCm39)	T170I	possibly 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
R6313:Spata31h1	UTSW	10	82,129,470 (GRCm39)	missense	probably benign	0.00
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
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'- ACTTCGCTGCCATGATCCAAG -3'
(R):5'- ATTCTATTGGCTACAACTCTGGG -3'

Sequencing Primer
(F):5'- GATCCAAGCTGGCTCTTCAAAAGTG -3'
(R):5'- TCTGGGACACATTTACAAGCTC -3'

Posted On

2021-11-19