Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Spata31h1'

563217

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

045348-MU

Accession Numbers

Essential gene?

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

Stock #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82122876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 3378 (E3378G)

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

probably benign
Transcript: ENSMUST00000217661
AA Change: E3378G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,184 (GRCm39)	T612A	probably damaging	Het
Acacb	G	A	5: 114,383,161 (GRCm39)	A2115T	possibly damaging	Het
Adam32	T	C	8: 25,388,510 (GRCm39)	K398R	probably benign	Het
Adam9	T	A	8: 25,441,002 (GRCm39)	I824F	possibly damaging	Het
Ahnak	A	G	19: 8,986,395 (GRCm39)	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,542,644 (GRCm39)	M1I	probably null	Het
Anks1b	T	G	10: 90,348,699 (GRCm39)	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,241,931 (GRCm39)	N641K	probably benign	Het
Arhgap33	A	G	7: 30,228,146 (GRCm39)	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,171,095 (GRCm39)	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,148,617 (GRCm39)	L167P	probably damaging	Het
Bace2	T	C	16: 97,237,998 (GRCm39)	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,056,257 (GRCm39)	K177T		Het
Ccr4	T	C	9: 114,322,024 (GRCm39)	T14A	probably benign	Het
Cep250	A	T	2: 155,833,472 (GRCm39)	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,632,052 (GRCm39)	Q433R	probably benign	Het
Copb1	C	T	7: 113,836,591 (GRCm39)	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,079,012 (GRCm39)	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,459,499 (GRCm39)	I78V	probably benign	Het
Cyth4	A	G	15: 78,491,245 (GRCm39)	K108R	probably benign	Het
Dnah1	T	C	14: 30,986,896 (GRCm39)	H3632R	probably benign	Het
Dnah3	T	C	7: 119,542,856 (GRCm39)	I540V	probably benign	Het
Dock4	A	G	12: 40,844,859 (GRCm39)	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,477,879 (GRCm39)	T291A	probably damaging	Het
Eeig1	A	G	2: 32,448,076 (GRCm39)	R62G	probably benign	Het
Fbn1	T	C	2: 125,148,415 (GRCm39)	N2611S	possibly damaging	Het
Fcsk	A	G	8: 111,622,529 (GRCm39)	I133T	probably benign	Het
Fhod3	A	G	18: 25,193,409 (GRCm39)	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,852,013 (GRCm39)	D522E	probably benign	Het
Ganc	T	A	2: 120,272,010 (GRCm39)	I556K	probably damaging	Het
Gjc2	T	A	11: 59,067,960 (GRCm39)	E174V	unknown	Het
Gzmd	G	A	14: 56,368,799 (GRCm39)	R32C	probably damaging	Het
Hltf	T	A	3: 20,119,556 (GRCm39)	H200Q	probably benign	Het
Ift88	A	G	14: 57,717,454 (GRCm39)	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,350,322 (GRCm39)	C115F	probably damaging	Het
Impdh2	A	G	9: 108,440,636 (GRCm39)	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,494,581 (GRCm39)		probably null	Het
Kansl1l	T	C	1: 66,840,787 (GRCm39)	N171S	possibly damaging	Het
Kif14	T	A	1: 136,396,491 (GRCm39)	C266S	probably benign	Het
Kif19b	A	G	5: 140,447,943 (GRCm39)	T137A	probably damaging	Het
Lrriq1	A	C	10: 103,051,834 (GRCm39)	V306G	probably damaging	Het
Mast4	G	A	13: 103,470,508 (GRCm39)	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,223,091 (GRCm39)	D55G		Het
Mrps27	A	T	13: 99,547,788 (GRCm39)	K233*	probably null	Het
Myo1f	A	G	17: 33,798,902 (GRCm39)	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190 (GRCm39)	K729N	probably benign	Het
Or1e35	T	C	11: 73,798,058 (GRCm39)	S87G	probably benign	Het
Or8k35	C	A	2: 86,424,498 (GRCm39)	V225F	possibly damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Plaat5	A	G	19: 7,591,946 (GRCm39)	T121A	probably benign	Het
Polr1e	A	C	4: 45,029,340 (GRCm39)	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,299,874 (GRCm39)	V595A		Het
Prdm15	T	C	16: 97,596,941 (GRCm39)	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,353,516 (GRCm39)	M460K	probably benign	Het
Prkd2	G	T	7: 16,591,730 (GRCm39)	R587L	probably benign	Het
Prkn	C	A	17: 12,073,748 (GRCm39)	N355K	possibly damaging	Het
Rabep1	C	A	11: 70,830,815 (GRCm39)	T829N	probably damaging	Het
Rptn	A	G	3: 93,303,261 (GRCm39)	E198G	probably benign	Het
Ryr2	A	T	13: 11,680,799 (GRCm39)	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 120,960,708 (GRCm39)	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,621,346 (GRCm39)	S243G	probably benign	Het
Taf2	T	A	15: 54,925,537 (GRCm39)	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,306,493 (GRCm39)	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,416,468 (GRCm39)	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,066,295 (GRCm39)	T139K	probably damaging	Het
Timm10	T	A	2: 84,660,333 (GRCm39)	*91R	probably null	Het
Tlr11	T	A	14: 50,599,598 (GRCm39)	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,779,444 (GRCm39)	L278Q	probably damaging	Het
Toe1	A	T	4: 116,664,715 (GRCm39)	M1K	probably null	Het
Trpv5	G	A	6: 41,652,242 (GRCm39)	R148*	probably null	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Ttn	A	G	2: 76,783,550 (GRCm39)	V860A	unknown	Het
Txnip	T	C	3: 96,466,991 (GRCm39)	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,170,725 (GRCm39)	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,622,193 (GRCm39)	Y364H	probably damaging	Het
Unc5a	A	T	13: 55,138,833 (GRCm39)	T71S	probably damaging	Het
Vmn1r123	A	T	7: 20,896,537 (GRCm39)	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,651,891 (GRCm39)	I18N	probably damaging	Het
Washc2	A	G	6: 116,185,168 (GRCm39)	M1V	probably null	Het
Zfp174	C	A	16: 3,666,111 (GRCm39)	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,131,943 (GRCm39)	H227R	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
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'- ATTGAGGCCATGATGATGAATGTG -3'
(R):5'- GCCCCAGACAATTGATCCAGTC -3'

Sequencing Primer
(F):5'- CCATGATGATGAATGTGACTCAG -3'
(R):5'- AGACAATTGATCCAGTCACAAAATC -3'

Posted On

2019-06-26