Mutagenetix > Incidental Mutation

Incidental Mutation 'R7899:Spata31h1'

609900

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

045951-MU

Accession Numbers

Essential gene?

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

Stock #

R7899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82118731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 4760 (S4760P)

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

unknown
Transcript: ENSMUST00000217661
AA Change: S4760P

Meta Mutation Damage Score

0.2697

Coding Region Coverage

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

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,947,381 (GRCm39)	T49A	possibly damaging	Het
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Aagab	T	C	9: 63,524,132 (GRCm39)	F80L	probably benign	Het
Aox1	A	G	1: 58,320,396 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,528,569 (GRCm39)	S2P	probably damaging	Het
Bcar3	T	G	3: 122,301,902 (GRCm39)	V199G	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1a	G	A	8: 85,320,802 (GRCm39)	V1587M	possibly damaging	Het
Caps2	C	A	10: 112,001,666 (GRCm39)	S19Y	possibly damaging	Het
Ccdc196	A	G	12: 78,244,196 (GRCm39)	N50D		Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cobll1	A	G	2: 64,956,275 (GRCm39)	C328R	probably damaging	Het
Colec11	A	C	12: 28,645,281 (GRCm39)	V130G	probably damaging	Het
Dennd5b	A	T	6: 148,943,159 (GRCm39)	D572E	probably damaging	Het
Dido1	A	T	2: 180,313,390 (GRCm39)	S961T	possibly damaging	Het
Dnah7c	A	T	1: 46,553,861 (GRCm39)	M380L	probably benign	Het
Dnai2	T	C	11: 114,629,456 (GRCm39)	I161T	probably benign	Het
Dnttip2	T	A	3: 122,076,018 (GRCm39)	M650K	probably damaging	Het
Dpp6	C	T	5: 27,926,077 (GRCm39)	P717L	probably benign	Het
Epha10	A	G	4: 124,808,628 (GRCm39)	E759G		Het
Frmd4a	T	C	2: 4,608,900 (GRCm39)	W923R	probably damaging	Het
Ftsj3	C	A	11: 106,143,115 (GRCm39)	E400*	probably null	Het
Gabra4	C	A	5: 71,815,338 (GRCm39)		probably benign	Het
Gfm1	T	A	3: 67,380,860 (GRCm39)	N658K	probably benign	Het
Gm21560	A	T	14: 6,218,220 (GRCm38)	I86N	probably damaging	Het
Gpr68	C	A	12: 100,844,707 (GRCm39)	C279F	probably damaging	Het
Hspg2	G	A	4: 137,275,427 (GRCm39)	A2752T	possibly damaging	Het
Hydin	A	T	8: 111,314,380 (GRCm39)	D4288V	probably benign	Het
Ift74	A	G	4: 94,510,214 (GRCm39)	T82A	possibly damaging	Het
Ints7	T	A	1: 191,353,427 (GRCm39)	W918R	probably damaging	Het
Kcnc1	T	A	7: 46,077,245 (GRCm39)	I349N	probably damaging	Het
Loxl1	C	T	9: 58,198,117 (GRCm39)	D580N	probably damaging	Het
Mlph	A	T	1: 90,869,485 (GRCm39)	R496*	probably null	Het
Mtdh	A	G	15: 34,123,865 (GRCm39)	D364G	possibly damaging	Het
Mtmr11	C	A	3: 96,077,744 (GRCm39)	L580I	probably damaging	Het
Muc16	T	C	9: 18,551,993 (GRCm39)	I4767V	probably benign	Het
Muc21	TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG	TCAGGGTGGGGGTAGAGCCTGAG	17: 35,931,493 (GRCm39)		probably benign	Het
Myot	A	G	18: 44,487,251 (GRCm39)	T363A	probably benign	Het
Nfxl1	G	A	5: 72,681,558 (GRCm39)	P658S	probably damaging	Het
Nhlrc3	A	C	3: 53,369,080 (GRCm39)	S120A	probably benign	Het
Nmur2	C	A	11: 55,931,161 (GRCm39)	Q183H	probably benign	Het
Nucb2	T	A	7: 116,121,205 (GRCm39)	I45K	probably benign	Het
Nup155	A	T	15: 8,148,663 (GRCm39)	D277V	probably damaging	Het
Or5ak25	T	C	2: 85,268,741 (GRCm39)	T254A	probably benign	Het
Orc1	T	G	4: 108,460,568 (GRCm39)		probably null	Het
Panx2	A	G	15: 88,952,936 (GRCm39)	T468A	possibly damaging	Het
Pcdh7	A	G	5: 57,877,152 (GRCm39)	S236G	probably benign	Het
Pcdhga2	G	C	18: 37,803,910 (GRCm39)	G585R	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	T	G	9: 8,903,743 (GRCm39)	M588R	probably benign	Het
Ptpn18	A	T	1: 34,508,986 (GRCm39)		probably null	Het
Rbm8a2	T	A	1: 175,806,207 (GRCm39)	H90L	probably benign	Het
Ryr3	A	T	2: 112,477,295 (GRCm39)	L4507Q	possibly damaging	Het
Serpina12	A	G	12: 104,004,524 (GRCm39)	V36A	probably benign	Het
Sis	T	A	3: 72,844,584 (GRCm39)	S717C	probably damaging	Het
Slit2	A	G	5: 48,404,527 (GRCm39)	E846G	possibly damaging	Het
Smr3a	C	T	5: 88,156,086 (GRCm39)	H85Y	unknown	Het
Sned1	G	C	1: 93,201,804 (GRCm39)	R590P	probably benign	Het
Sting1	A	G	18: 35,867,626 (GRCm39)	S357P	probably damaging	Het
Sult2a7	A	G	7: 14,199,134 (GRCm39)	Y298H	probably damaging	Het
Syn3	A	G	10: 85,900,793 (GRCm39)	V365A	possibly damaging	Het
Syne1	A	T	10: 5,177,956 (GRCm39)	Y4839*	probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tbl3	G	T	17: 24,921,458 (GRCm39)	H478N	probably damaging	Het
Tcirg1	A	T	19: 3,949,104 (GRCm39)	I395N	probably damaging	Het
Ticrr	T	C	7: 79,319,233 (GRCm39)	I406T	probably benign	Het
Tmem120a	C	A	5: 135,766,052 (GRCm39)	K123N	probably benign	Het
Tmem184c	A	G	8: 78,324,440 (GRCm39)	V350A	probably damaging	Het
Tmem70	G	T	1: 16,747,268 (GRCm39)	M128I	probably benign	Het
Tmx3	A	T	18: 90,545,998 (GRCm39)		probably null	Het
Topors	G	C	4: 40,260,356 (GRCm39)	S976W	unknown	Het
Trp53	T	C	11: 69,481,519 (GRCm39)	L341P	probably damaging	Het
Usp14	T	C	18: 10,000,563 (GRCm39)	K366E	possibly damaging	Het
Zbtb49	G	T	5: 38,371,274 (GRCm39)	C202*	probably null	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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
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'- ATGGCTCTTCCTTGAGGGAC -3'
(R):5'- TGAAAGGACCCATCACAGGC -3'

Sequencing Primer
(F):5'- CTCTTCCTTGAGGGACTTCGAG -3'
(R):5'- AGGCTTCTTCAGAGAACTCATCGG -3'

Posted On

2019-12-20