Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Gm973'

729543

Institutional Source

Beutler Lab

Gene Symbol

Gm973

Ensembl Gene

ENSMUSG00000047361

Gene Name

predicted gene 973

Synonyms

LOC381260

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59555423-59675576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59566032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 84 (W84R)

Ref Sequence

ENSEMBL: ENSMUSP00000109881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114243] [ENSMUST00000186434]

AlphaFold

E9Q295

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114243
AA Change: W84R

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: W84R

Domain	Start	End	E-Value	Type
low complexity region	364	375	N/A	INTRINSIC
Pfam:DUF4670	583	1045	7.3e-160	PFAM

Predicted Effect

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Ap4e1	T	C	2: 126,875,563 (GRCm39)	V218A	probably benign	Het
Armc12	A	T	17: 28,751,375 (GRCm39)	D123V	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Cux1	T	C	5: 136,343,169 (GRCm39)	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454 (GRCm39)	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Dock9	A	T	14: 121,876,983 (GRCm39)	C463S	probably benign	Het
Dyrk1b	G	A	7: 27,885,838 (GRCm39)	R548Q	probably damaging	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gnpat	A	G	8: 125,613,678 (GRCm39)	K642E	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gpx6	A	T	13: 21,501,777 (GRCm39)	Q133L	probably benign	Het
Gzmn	T	C	14: 56,405,310 (GRCm39)	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hspa5	C	T	2: 34,664,649 (GRCm39)	R368*	probably null	Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,572,663 (GRCm39)	V94E	possibly damaging	Het
Map1s	C	T	8: 71,369,712 (GRCm39)	T928I	possibly damaging	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mrpl9	A	G	3: 94,351,892 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Nlrp1a	T	C	11: 70,987,946 (GRCm39)	S1175G	probably benign	Het
Nup153	A	T	13: 46,840,211 (GRCm39)	D1132E	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Or13j1	C	A	4: 43,705,793 (GRCm39)	M258I	probably benign	Het
Plekhg6	C	T	6: 125,347,602 (GRCm39)	V451I	probably benign	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Ptprd	A	G	4: 75,916,896 (GRCm39)	Y752H	probably damaging	Het
Rbm12	A	G	2: 155,938,166 (GRCm39)	I702T	probably benign	Het
Rnf212	A	G	5: 108,922,738 (GRCm39)		probably null	Het
Sall3	C	A	18: 81,017,443 (GRCm39)	A162S	probably benign	Het
Sec24d	T	C	3: 123,063,321 (GRCm39)	S13P	probably damaging	Het
Serpina16	T	C	12: 103,638,873 (GRCm39)	Q238R	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,489,585 (GRCm39)	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,700,478 (GRCm39)	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,003,766 (GRCm39)	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,433,559 (GRCm39)	Y346C	probably damaging	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
Tg	C	G	15: 66,637,991 (GRCm39)	T2268S	probably benign	Het
Thbs1	A	G	2: 117,950,716 (GRCm39)	N721S	probably benign	Het
Treh	A	G	9: 44,594,648 (GRCm39)	Y275C	probably damaging	Het
Trpv5	G	T	6: 41,651,594 (GRCm39)	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,032,579 (GRCm39)	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Ttn	G	T	2: 76,748,927 (GRCm39)	H4041N	probably benign	Het
Ubtf	A	G	11: 102,199,718 (GRCm39)		probably null	Het
Urod	C	T	4: 116,849,778 (GRCm39)	V207M	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	probably damaging	Het

Other mutations in Gm973

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Gm973	APN	1	59,669,438 (GRCm39)	missense	probably benign	0.00
IGL01732:Gm973	APN	1	59,669,396 (GRCm39)	missense	probably benign	0.24
IGL02124:Gm973	APN	1	59,621,632 (GRCm39)	nonsense	probably null
IGL02251:Gm973	APN	1	59,621,582 (GRCm39)	missense	probably benign	0.18
IGL02818:Gm973	APN	1	59,580,634 (GRCm39)	critical splice donor site	probably null
IGL03385:Gm973	APN	1	59,621,629 (GRCm39)	missense	probably benign	0.14
R0105:Gm973	UTSW	1	59,621,633 (GRCm39)	missense	probably null	0.60
R0105:Gm973	UTSW	1	59,621,633 (GRCm39)	missense	probably null	0.60
R0280:Gm973	UTSW	1	59,583,839 (GRCm39)	frame shift	probably null
R0490:Gm973	UTSW	1	59,597,393 (GRCm39)	splice site	probably benign
R0491:Gm973	UTSW	1	59,597,393 (GRCm39)	splice site	probably benign
R0508:Gm973	UTSW	1	59,621,649 (GRCm39)	splice site	probably benign
R0636:Gm973	UTSW	1	59,590,303 (GRCm39)	missense	probably benign	0.13
R0709:Gm973	UTSW	1	59,597,393 (GRCm39)	splice site	probably benign
R0900:Gm973	UTSW	1	59,605,827 (GRCm39)	missense	probably benign	0.00
R1758:Gm973	UTSW	1	59,673,169 (GRCm39)	missense	unknown
R1816:Gm973	UTSW	1	59,621,558 (GRCm39)	missense	probably damaging	0.99
R1975:Gm973	UTSW	1	59,601,930 (GRCm39)	missense	possibly damaging	0.50
R2166:Gm973	UTSW	1	59,565,898 (GRCm39)	missense	possibly damaging	0.61
R3052:Gm973	UTSW	1	59,672,299 (GRCm39)	splice site	probably benign
R3899:Gm973	UTSW	1	59,664,299 (GRCm39)	missense	probably benign	0.00
R4181:Gm973	UTSW	1	59,590,399 (GRCm39)	missense	possibly damaging	0.93
R4302:Gm973	UTSW	1	59,590,399 (GRCm39)	missense	possibly damaging	0.93
R4623:Gm973	UTSW	1	59,595,435 (GRCm39)	missense	probably damaging	1.00
R4642:Gm973	UTSW	1	59,597,273 (GRCm39)	missense	probably damaging	1.00
R4716:Gm973	UTSW	1	59,591,713 (GRCm39)	nonsense	probably null
R4920:Gm973	UTSW	1	59,666,725 (GRCm39)	missense	probably benign
R4951:Gm973	UTSW	1	59,580,633 (GRCm39)	critical splice donor site	probably null
R5214:Gm973	UTSW	1	59,565,880 (GRCm39)	missense	probably damaging	1.00
R5225:Gm973	UTSW	1	59,601,859 (GRCm39)	missense	probably benign	0.01
R5472:Gm973	UTSW	1	59,667,446 (GRCm39)	splice site	probably null
R5554:Gm973	UTSW	1	59,566,131 (GRCm39)	missense	probably benign	0.09
R5709:Gm973	UTSW	1	59,591,714 (GRCm39)	missense	possibly damaging	0.73
R5886:Gm973	UTSW	1	59,597,409 (GRCm39)	intron	probably benign
R6044:Gm973	UTSW	1	59,667,393 (GRCm39)	missense	probably benign
R6046:Gm973	UTSW	1	59,671,509 (GRCm39)	missense	unknown
R6818:Gm973	UTSW	1	59,669,328 (GRCm39)	missense	probably damaging	0.99
R6920:Gm973	UTSW	1	59,591,620 (GRCm39)	missense	possibly damaging	0.76
R6999:Gm973	UTSW	1	59,673,251 (GRCm39)	missense	unknown
R7214:Gm973	UTSW	1	59,601,888 (GRCm39)	nonsense	probably null
R7418:Gm973	UTSW	1	59,565,972 (GRCm39)	missense	probably damaging	1.00
R7780:Gm973	UTSW	1	59,597,289 (GRCm39)	missense	probably damaging	1.00
R8834:Gm973	UTSW	1	59,563,820 (GRCm39)	missense
R9083:Gm973	UTSW	1	59,675,317 (GRCm39)	missense
R9206:Gm973	UTSW	1	59,591,585 (GRCm39)	missense	possibly damaging	0.86
R9297:Gm973	UTSW	1	59,583,829 (GRCm39)	missense	probably damaging	1.00
R9519:Gm973	UTSW	1	59,580,611 (GRCm39)	missense	probably benign	0.29
Z1176:Gm973	UTSW	1	59,563,761 (GRCm39)	start gained	probably benign
Z1177:Gm973	UTSW	1	59,580,489 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTGTTTGCTGCAGAAGGATC -3'
(R):5'- TCCCAAGAAGTTACATTCATGGC -3'

Sequencing Primer
(F):5'- GTAGAGCTTGAGCACATGACCTC -3'
(R):5'- GGCTACAATTGCATTTATGAACACAC -3'

Posted On

2022-10-06