Mutagenetix > Incidental Mutation

Incidental Mutation 'R9674:Spata31h1'

728247

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82120030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 4327 (V4327I)

Ref Sequence

ENSEMBL: ENSMUSP00000151425 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171401
AA Change: V357I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581
AA Change: V357I

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: V4327I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,472 (GRCm39)	D25V	possibly damaging	Het
Abca16	A	G	7: 120,074,668 (GRCm39)		probably null	Het
Adam9	T	A	8: 25,441,014 (GRCm39)	T820S	possibly damaging	Het
Adamts6	G	A	13: 104,563,448 (GRCm39)	V647I	probably benign	Het
Afap1l2	T	A	19: 56,922,195 (GRCm39)	R14S	probably damaging	Het
Aff3	C	T	1: 38,248,864 (GRCm39)	V748I	probably damaging	Het
Aldh5a1	T	C	13: 25,110,038 (GRCm39)	I166V	probably benign	Het
Alx4	G	T	2: 93,507,858 (GRCm39)	L384F	probably damaging	Het
Ank3	T	A	10: 69,824,549 (GRCm39)	S1073T		Het
Ankrd50	A	G	3: 38,506,574 (GRCm39)	C275R	unknown	Het
Apol11a	G	A	15: 77,401,347 (GRCm39)	S278N	possibly damaging	Het
Astn2	T	A	4: 65,460,963 (GRCm39)	D1057V	probably damaging	Het
Atp11a	T	C	8: 12,877,525 (GRCm39)	V317A	probably benign	Het
Cacna1i	A	G	15: 80,264,629 (GRCm39)	T1486A	probably damaging	Het
Cadps	A	G	14: 12,454,291 (GRCm38)	F1076L	probably damaging	Het
Cct6b	T	C	11: 82,645,838 (GRCm39)	T154A	probably damaging	Het
Cfap69	A	G	5: 5,697,021 (GRCm39)	F92L	possibly damaging	Het
Cyp19a1	A	T	9: 54,074,141 (GRCm39)	I471K	possibly damaging	Het
Cyp26a1	T	A	19: 37,689,726 (GRCm39)	M474K	probably damaging	Het
Cyp4a12a	T	C	4: 115,186,156 (GRCm39)	S439P	probably benign	Het
Cyp4f37	T	A	17: 32,846,841 (GRCm39)		probably null	Het
Dgki	A	G	6: 37,027,157 (GRCm39)	Y395H	probably damaging	Het
Dlg1	T	C	16: 31,610,580 (GRCm39)	V287A	probably damaging	Het
Dlx2	C	T	2: 71,376,496 (GRCm39)	G81S	possibly damaging	Het
Dnah8	G	T	17: 30,998,112 (GRCm39)	K3448N	possibly damaging	Het
Dnhd1	C	T	7: 105,363,429 (GRCm39)	P3997L	probably damaging	Het
Drosha	C	G	15: 12,890,170 (GRCm39)	D910E	probably damaging	Het
Dscam	A	G	16: 96,442,036 (GRCm39)	V1597A	probably benign	Het
Eif1b	A	G	9: 120,323,265 (GRCm39)	K42E	possibly damaging	Het
Enpp2	C	A	15: 54,816,135 (GRCm39)	G10W	unknown	Het
Exd2	A	G	12: 80,536,372 (GRCm39)	N334S	probably benign	Het
Glt6d1	T	A	2: 25,684,382 (GRCm39)	N208I	probably benign	Het
Grin2a	T	A	16: 9,471,265 (GRCm39)	K668*	probably null	Het
Grm1	A	G	10: 10,609,028 (GRCm39)	V535A	possibly damaging	Het
H2ac7	A	G	13: 23,758,862 (GRCm39)	D73G	possibly damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Ighm	T	A	12: 113,385,139 (GRCm39)	I274F		Het
Ighv1-58	G	T	12: 115,275,847 (GRCm39)	T97K	probably damaging	Het
Igkv6-20	T	C	6: 70,312,852 (GRCm39)	H107R	possibly damaging	Het
Il15	C	T	8: 83,069,938 (GRCm39)	G42D	probably damaging	Het
Jakmip2	T	A	18: 43,704,961 (GRCm39)	M347L	probably benign	Het
Kcnh7	T	C	2: 62,595,060 (GRCm39)	Y670C	probably damaging	Het
Ktn1	G	C	14: 47,922,213 (GRCm39)	C458S	possibly damaging	Het
Lama5	C	T	2: 179,840,267 (GRCm39)		probably null	Het
Lce1i	T	C	3: 92,685,113 (GRCm39)	Q21R	unknown	Het
Lmo7	A	T	14: 102,078,340 (GRCm39)	E81D	probably damaging	Het
Lrrc4b	A	T	7: 44,111,852 (GRCm39)	I575F	probably damaging	Het
Mmrn1	C	T	6: 60,948,072 (GRCm39)	Q272*	probably null	Het
Nbea	A	T	3: 55,966,183 (GRCm39)	D426E	probably damaging	Het
Neto1	G	A	18: 86,491,827 (GRCm39)	V243M	probably damaging	Het
Notch1	G	A	2: 26,361,308 (GRCm39)	R1061C	probably damaging	Het
Or5g25	T	G	2: 85,478,593 (GRCm39)	Q24P	possibly damaging	Het
Or5p67	A	T	7: 107,922,271 (GRCm39)	I204N	probably benign	Het
Osgin1	A	G	8: 120,172,499 (GRCm39)	D431G	possibly damaging	Het
Ppp4r1	A	G	17: 66,140,127 (GRCm39)	D675G	probably damaging	Het
Pramel25	T	A	4: 143,520,162 (GRCm39)	H135Q	probably benign	Het
Prkdc	T	A	16: 15,533,819 (GRCm39)	H1552Q	probably damaging	Het
Rbfox1	T	C	16: 7,170,885 (GRCm39)	F282L	probably benign	Het
Ret	T	C	6: 118,130,830 (GRCm39)	D1111G	probably damaging	Het
Rnf224	A	T	2: 25,126,330 (GRCm39)	Y8N	probably benign	Het
Rtl1	G	T	12: 109,559,024 (GRCm39)	H938Q	possibly damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Sema3f	A	T	9: 107,566,947 (GRCm39)	L194Q	possibly damaging	Het
Sfmbt1	C	T	14: 30,495,851 (GRCm39)	R45C	probably damaging	Het
Slc7a4	T	C	16: 17,392,208 (GRCm39)	I409V	probably benign	Het
Slco6c1	T	A	1: 97,047,565 (GRCm39)	D246V	probably damaging	Het
Smap2	C	T	4: 120,826,745 (GRCm39)	M426I	probably benign	Het
Tmem184b	T	A	15: 79,249,524 (GRCm39)	T315S	probably benign	Het
Trpm4	A	T	7: 44,982,811 (GRCm39)	D30E	possibly damaging	Het
Ttc7b	T	A	12: 100,432,553 (GRCm39)	K154N	probably benign	Het
Vps13b	T	A	15: 35,607,380 (GRCm39)	H1104Q	probably damaging	Het
Wnk4	T	A	11: 101,166,874 (GRCm39)	L1010Q	unknown	Het
Xpo6	T	A	7: 125,723,700 (GRCm39)	H537L	probably benign	Het
Xrn1	A	T	9: 95,855,645 (GRCm39)	Y314F	probably damaging	Het
Xrn1	A	T	9: 95,855,647 (GRCm39)	I315F	possibly damaging	Het
Zap70	T	C	1: 36,810,150 (GRCm39)	Y87H	probably benign	Het
Zbtb4	T	C	11: 69,669,973 (GRCm39)	Y899H	probably damaging	Het
Zcchc7	T	A	4: 44,931,418 (GRCm39)	H202Q	possibly damaging	Het
Zeb2	A	G	2: 44,891,725 (GRCm39)	Y276H	probably damaging	Het
Zfp867	T	G	11: 59,355,850 (GRCm39)	Q68P	probably benign	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
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
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'- TGACAGAATTCATAGTCTTTGGCTG -3'
(R):5'- CTGCTTACAATGTGGCCGATG -3'

Sequencing Primer
(F):5'- AGAATTCATAGTCTTTGGCTGTTGTC -3'
(R):5'- ACAATGTGGCCGATGTTCAG -3'

Posted On

2022-10-06