Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Spata31h1'

581222

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

045571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7498 (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 82127113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1966 (T1966S)

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: T1966S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194 (GRCm39)	S111G	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fdx1	A	C	9: 51,859,898 (GRCm39)	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mettl8	A	C	2: 70,795,969 (GRCm39)	V306G	probably damaging	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Or5p80	T	A	7: 108,229,623 (GRCm39)	C141*	probably null	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Prc1	C	T	7: 79,962,898 (GRCm39)	T564M	possibly damaging	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	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
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'- GTCTTGGGCCTTGTCATCAAC -3'
(R):5'- TAGGGTCAAACTCAAAGTCACAG -3'

Sequencing Primer
(F):5'- ACCTCCCAATTTTATGGAGGG -3'
(R):5'- GTCACAGTCTCAAGAAGCCAG -3'

Posted On

2019-10-17