Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01540:Spata31h1'

90130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01540

Quality Score

Status

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82120016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 4331 (H4331Q)

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
AA Change: H361Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581
AA Change: H361Q

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: H4331Q

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,151,252 (GRCm39)		probably null	Het
Ceacam12	T	C	7: 17,805,727 (GRCm39)		probably benign	Het
Cyp2j13	A	T	4: 95,956,959 (GRCm39)		probably benign	Het
Golim4	T	G	3: 75,794,047 (GRCm39)	E538A	possibly damaging	Het
Gstcd	A	T	3: 132,692,175 (GRCm39)	V580D	probably damaging	Het
Hspg2	A	G	4: 137,247,017 (GRCm39)	T1115A	probably damaging	Het
Maea	T	C	5: 33,515,910 (GRCm39)	S18P	probably benign	Het
Mertk	T	C	2: 128,625,887 (GRCm39)	L674P	probably damaging	Het
Nol8	A	T	13: 49,815,146 (GRCm39)	Q400L	probably benign	Het
Nt5el	T	C	13: 105,218,761 (GRCm39)	S32P	possibly damaging	Het
Or10a3b	G	T	7: 108,444,887 (GRCm39)	T110N	probably damaging	Het
Or6b2	A	G	1: 92,408,202 (GRCm39)	L47P	probably damaging	Het
Pycard	T	A	7: 127,592,002 (GRCm39)	D113V	probably benign	Het
S100z	G	A	13: 95,613,861 (GRCm39)	T83M	probably damaging	Het
Sacs	A	G	14: 61,429,084 (GRCm39)	D381G	possibly damaging	Het
Tbpl2	T	C	2: 23,984,985 (GRCm39)	H53R	probably benign	Het
Tlr6	T	C	5: 65,112,629 (GRCm39)	R93G	probably damaging	Het
Trabd	A	G	15: 88,968,998 (GRCm39)	E172G	probably benign	Het
Vrk3	A	G	7: 44,416,568 (GRCm39)	H277R	probably damaging	Het
Zfp512	T	C	5: 31,630,840 (GRCm39)	V338A	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
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
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

Posted On

2013-12-03