Mutagenetix > Incidental Mutation

Incidental Mutation 'R7418:Gm973'

575423

Institutional Source

Beutler Lab

Gene Symbol

Gm973

Ensembl Gene

ENSMUSG00000047361

Gene Name

predicted gene 973

Synonyms

LOC381260

MMRRC Submission

045496-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59555423-59675576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59565972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 64 (T64A)

Ref Sequence

ENSEMBL: ENSMUSP00000109881 (fasta)

Gene Model

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

AlphaFold

E9Q295

Predicted Effect

probably damaging
Transcript: ENSMUST00000114243
AA Change: T64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: T64A

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

Predicted Effect

Meta Mutation Damage Score

0.0966

Coding Region Coverage

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

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	T	G	10: 90,859,697 (GRCm39)	H827P	probably benign	Het
Atp8b3	A	T	10: 80,365,926 (GRCm39)	L308Q	probably damaging	Het
Ccdc180	T	C	4: 45,904,616 (GRCm39)	L404P	probably damaging	Het
Cdh13	G	A	8: 120,039,264 (GRCm39)	G569R	probably damaging	Het
Clec14a	G	A	12: 58,315,433 (GRCm39)	T63I	probably damaging	Het
Cngb1	G	T	8: 96,004,887 (GRCm39)	S487*	probably null	Het
Cog5	A	T	12: 31,883,240 (GRCm39)	N390Y	probably damaging	Het
Col6a4	C	T	9: 105,900,114 (GRCm39)	G1670S	probably damaging	Het
Daxx	T	A	17: 34,129,579 (GRCm39)	D53E	probably benign	Het
Dnah14	C	T	1: 181,444,307 (GRCm39)	T539I	possibly damaging	Het
Dnajc2	A	G	5: 21,965,622 (GRCm39)		probably null	Het
Ehmt1	C	T	2: 24,774,646 (GRCm39)	G53R	probably benign	Het
Eif2b1	T	A	5: 124,714,893 (GRCm39)	N113Y	probably benign	Het
Eya3	A	G	4: 132,408,159 (GRCm39)	T152A	possibly damaging	Het
Fam234b	G	A	6: 135,194,009 (GRCm39)	V221M	probably benign	Het
Fbxl13	T	A	5: 21,786,981 (GRCm39)	T319S	probably benign	Het
Fchsd2	G	T	7: 100,920,831 (GRCm39)	V479F	possibly damaging	Het
Fgd5	T	C	6: 92,001,519 (GRCm39)	S905P	probably benign	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Fxn	C	T	19: 24,257,860 (GRCm39)	V24I	probably benign	Het
Gapvd1	C	T	2: 34,615,130 (GRCm39)	D456N	probably benign	Het
Gm128	C	T	3: 95,147,878 (GRCm39)	V139M	possibly damaging	Het
Gtf2h5	T	A	17: 6,134,903 (GRCm39)	N64K	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Haus6	A	G	4: 86,513,010 (GRCm39)	S386P	possibly damaging	Het
Hsh2d	A	G	8: 72,950,638 (GRCm39)		probably null	Het
Htt	T	C	5: 34,947,697 (GRCm39)	M125T	possibly damaging	Het
Inpp5d	T	A	1: 87,635,933 (GRCm39)		probably null	Het
Ints4	G	A	7: 97,140,179 (GRCm39)	A137T	probably benign	Het
Isl2	A	G	9: 55,451,636 (GRCm39)	D263G	probably benign	Het
Itgb5	T	G	16: 33,705,464 (GRCm39)	D251E	probably damaging	Het
Jpt1	A	T	11: 115,389,095 (GRCm39)	L116Q	probably damaging	Het
Kansl2	A	G	15: 98,429,775 (GRCm39)	S86P	possibly damaging	Het
Kat2b	G	T	17: 53,917,953 (GRCm39)	R104I	possibly damaging	Het
Kcna10	C	A	3: 107,102,362 (GRCm39)	A331D	probably benign	Het
Kcnk3	G	A	5: 30,779,675 (GRCm39)	V242M	possibly damaging	Het
Kdm4a	A	G	4: 118,017,440 (GRCm39)	L542P	probably damaging	Het
Kif20b	T	C	19: 34,907,087 (GRCm39)	F119L	probably damaging	Het
Krtcap3	A	T	5: 31,409,881 (GRCm39)	H149L	probably benign	Het
Lhx4	A	G	1: 155,586,005 (GRCm39)	V102A	probably damaging	Het
Luc7l	T	A	17: 26,472,156 (GRCm39)		probably benign	Het
Myh15	G	T	16: 48,975,900 (GRCm39)	A1323S	possibly damaging	Het
Myl1	T	A	1: 66,965,338 (GRCm39)	R151S	unknown	Het
Naif1	A	G	2: 32,342,583 (GRCm39)	S45G	probably benign	Het
Ndst4	C	T	3: 125,501,800 (GRCm39)	T121I	probably damaging	Het
Neurod6	C	T	6: 55,656,283 (GRCm39)	R118Q	probably damaging	Het
Npl	A	T	1: 153,413,257 (GRCm39)		probably null	Het
Nr4a3	T	C	4: 48,051,476 (GRCm39)	Y77H	probably damaging	Het
Or4a81	A	T	2: 89,619,320 (GRCm39)	C125*	probably null	Het
Or4b1	T	G	2: 89,979,831 (GRCm39)	D173A	probably damaging	Het
Pex11a	G	A	7: 79,392,735 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,359,470 (GRCm39)	F553I	unknown	Het
Sbf2	C	T	7: 109,965,028 (GRCm39)	R1002H	probably damaging	Het
Sectm1a	C	A	11: 120,960,119 (GRCm39)		probably null	Het
Slit3	G	A	11: 35,577,255 (GRCm39)	V1163M	possibly damaging	Het
Sphk2	G	A	7: 45,361,180 (GRCm39)	R275C	probably damaging	Het
Tango6	A	G	8: 107,415,466 (GRCm39)	S96G	probably benign	Het
Tg	A	G	15: 66,568,432 (GRCm39)	E1373G	probably damaging	Het
Traf3ip1	T	A	1: 91,435,458 (GRCm39)		probably null	Het
Trp53	T	C	11: 69,479,214 (GRCm39)	F131L	probably damaging	Het
Ttc21a	A	T	9: 119,788,117 (GRCm39)	E847D	probably benign	Het
Ttn	A	G	2: 76,602,791 (GRCm39)	F18477S	probably damaging	Het
Usp25	A	T	16: 76,910,730 (GRCm39)	R929*	probably null	Het
Usp49	G	T	17: 47,983,093 (GRCm39)	E33*	probably null	Het
Vmn1r63	A	G	7: 5,806,554 (GRCm39)	V26A	possibly damaging	Het
Vmn1r74	A	T	7: 11,581,081 (GRCm39)	Y127F	possibly damaging	Het
Wdfy3	C	T	5: 102,105,366 (GRCm39)	V154I	probably benign	Het
Xdh	A	G	17: 74,220,960 (GRCm39)	S590P	possibly damaging	Het
Zkscan4	A	G	13: 21,668,799 (GRCm39)	K446E	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
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
R9701:Gm973	UTSW	1	59,566,032 (GRCm39)	missense	possibly damaging	0.61
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'- ACAGTGTTTGCTGCAGAAGG -3'
(R):5'- CCCAAGAAGTTACATTCATGGC -3'

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

Posted On

2019-10-07