Mutagenetix > Incidental Mutation

Incidental Mutation 'R7305:Spata31h1'

567252

Institutional Source

Beutler Lab

Gene Symbol

Spata31h1

Ensembl Gene

ENSMUSG00000044581

Gene Name

SPATA31 subfamily H member 1

Synonyms

4932415D10Rik

MMRRC Submission

045407-MU

Accession Numbers

Essential gene?

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

Stock #

R7305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82117950-82152416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82120953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 4019 (I4019K)

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: I49K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581
AA Change: I49K

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: I4019K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	T	2: 181,135,209 (GRCm39)	D37V	possibly damaging	Het
Ankhd1	A	G	18: 36,765,258 (GRCm39)	D87G		Het
Ankrd31	A	G	13: 97,015,479 (GRCm39)	S1583G	probably damaging	Het
Ankub1	T	C	3: 57,599,938 (GRCm39)		probably benign	Het
Apba3	A	G	10: 81,107,067 (GRCm39)	D264G	probably damaging	Het
Armh3	A	T	19: 45,880,560 (GRCm39)	M508K	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cnot3	A	T	7: 3,648,479 (GRCm39)		probably benign	Het
Cxxc1	A	G	18: 74,352,467 (GRCm39)	Y349C	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp3a57	A	G	5: 145,307,795 (GRCm39)	I184V	probably benign	Het
D130052B06Rik	GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG	GTCTACACTGTCCTG	11: 33,573,355 (GRCm39)		probably null	Het
Dab1	T	A	4: 104,570,987 (GRCm39)	D210E		Het
Elavl1	G	A	8: 4,375,199 (GRCm39)		probably benign	Het
Emilin1	C	T	5: 31,074,433 (GRCm39)	Q225*	probably null	Het
Eml6	G	T	11: 29,727,258 (GRCm39)	A1288E	probably benign	Het
Eno1	T	C	4: 150,329,796 (GRCm39)		probably null	Het
Eprs1	C	T	1: 185,111,898 (GRCm39)	R303C	probably damaging	Het
Eps15l1	G	A	8: 73,126,878 (GRCm39)	A651V	probably benign	Het
Etl4	A	T	2: 20,714,368 (GRCm39)	I156F	probably damaging	Het
Faim2	A	T	15: 99,411,814 (GRCm39)	I171N	probably damaging	Het
Fam135a	T	A	1: 24,069,939 (GRCm39)	N381I	probably damaging	Het
Fhip1a	G	T	3: 85,637,831 (GRCm39)	P156Q	probably damaging	Het
Gabrg3	T	A	7: 56,384,833 (GRCm39)	M243L	probably benign	Het
Garin2	A	G	12: 78,761,809 (GRCm39)	K158E	possibly damaging	Het
Gm5134	A	G	10: 75,836,233 (GRCm39)	I405V	probably damaging	Het
Gm9376	A	T	14: 118,504,768 (GRCm39)	K67*	probably null	Het
Grm8	A	T	6: 27,761,354 (GRCm39)	I290K	possibly damaging	Het
Hao1	T	A	2: 134,390,121 (GRCm39)	M73L	probably benign	Het
Herc1	A	G	9: 66,369,150 (GRCm39)	D452G		Het
Idh3b	C	A	2: 130,123,413 (GRCm39)	K192N	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,553 (GRCm39)	S63P	probably benign	Het
Itgb2	A	C	10: 77,384,398 (GRCm39)	D173A	probably damaging	Het
Jmjd8	A	T	17: 26,049,301 (GRCm39)	T255S	probably benign	Het
Lamc3	A	C	2: 31,820,714 (GRCm39)	E1243A	probably benign	Het
Map1a	A	G	2: 121,129,939 (GRCm39)	T252A	probably damaging	Het
Mrgpra1	C	A	7: 46,985,203 (GRCm39)	A159S	probably benign	Het
Ndst3	T	C	3: 123,395,131 (GRCm39)	I500V	possibly damaging	Het
Nhsl1	A	G	10: 18,407,434 (GRCm39)	T1523A	possibly damaging	Het
Nr2f1	A	G	13: 78,343,298 (GRCm39)	I322T	probably damaging	Het
Nup210	T	C	6: 91,064,948 (GRCm39)	E184G	probably damaging	Het
Obsl1	C	T	1: 75,470,590 (GRCm39)	W1022*	probably null	Het
Or2l13	T	A	16: 19,306,449 (GRCm39)	I287N	probably damaging	Het
Or4a77	T	A	2: 89,486,846 (GRCm39)	H313L	probably benign	Het
Or52p2	G	T	7: 102,237,162 (GRCm39)	Q263K	possibly damaging	Het
Or5p51	A	T	7: 107,444,572 (GRCm39)	Y123N	probably damaging	Het
Or6c1	A	T	10: 129,518,149 (GRCm39)	I153N	probably damaging	Het
Or6c65	T	A	10: 129,603,720 (GRCm39)	Y118*	probably null	Het
Otulinl	A	G	15: 27,658,319 (GRCm39)	C184R	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Parp8	A	G	13: 117,031,461 (GRCm39)	L417P	possibly damaging	Het
Pdia6	A	G	12: 17,324,509 (GRCm39)	Q120R	probably benign	Het
Ppp3cc	T	C	14: 70,478,252 (GRCm39)	N290S	probably benign	Het
Prdm5	C	A	6: 65,808,244 (GRCm39)	S63R	possibly damaging	Het
Prr14l	T	C	5: 32,988,445 (GRCm39)	D350G	probably benign	Het
Pwwp2a	T	C	11: 43,607,878 (GRCm39)	L497S	probably damaging	Het
R3hdm2	A	G	10: 127,312,547 (GRCm39)	N430D	probably benign	Het
Rad51ap2	A	G	12: 11,507,344 (GRCm39)	N422S	possibly damaging	Het
Rbbp8	G	A	18: 11,805,638 (GRCm39)		probably null	Het
Rsf1	GGCGGCGGC	GGCGGCGGCAGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Slc22a6	G	A	19: 8,599,522 (GRCm39)		probably null	Het
Slc28a3	T	A	13: 58,714,045 (GRCm39)	E440V	possibly damaging	Het
Slc30a5	A	T	13: 100,947,932 (GRCm39)	I482K	probably damaging	Het
Slco1a1	A	T	6: 141,870,223 (GRCm39)	F305Y	probably damaging	Het
Slco1a8	G	A	6: 141,938,220 (GRCm39)	A253V	probably damaging	Het
Slco4c1	T	C	1: 96,756,690 (GRCm39)	N544S	probably damaging	Het
Smpd4	T	A	16: 17,459,647 (GRCm39)	I656N	probably damaging	Het
Taok1	A	T	11: 77,432,500 (GRCm39)	L771*	probably null	Het
Tmem231	T	C	8: 112,641,927 (GRCm39)	D209G	possibly damaging	Het
Tmem25	A	G	9: 44,706,705 (GRCm39)		probably null	Het
Tmem79	T	C	3: 88,240,718 (GRCm39)	T77A	probably benign	Het
Topbp1	A	T	9: 103,205,836 (GRCm39)	T825S	probably damaging	Het
Trpm6	A	T	19: 18,853,455 (GRCm39)	Q1825L	probably benign	Het
Uba1y	T	A	Y: 821,348 (GRCm39)	D110E	probably damaging	Het
Utrn	A	T	10: 12,261,280 (GRCm39)	N3422K	probably benign	Het
Vmn1r219	A	T	13: 23,347,314 (GRCm39)	M168L	probably benign	Het
Vmn2r62	T	C	7: 42,414,235 (GRCm39)	H736R	possibly damaging	Het
Wdr1	T	C	5: 38,697,435 (GRCm39)	H291R	possibly damaging	Het
Zan	T	C	5: 137,413,401 (GRCm39)	T3177A	unknown	Het
Zbtb21	T	C	16: 97,752,495 (GRCm39)	H596R	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
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
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'- TCTCTCTTGCAGGCTTTGAG -3'
(R):5'- ACCCTCTGATAAGACAGGAGAC -3'

Sequencing Primer
(F):5'- CTCTTGCAGGCTTTGAGAAAATTCC -3'
(R):5'- CTCTGATAAGACAGGAGACACCAAG -3'

Posted On

2019-06-26