Mutagenetix > Incidental Mutation

Incidental Mutation 'R6818:Gm973'

537403

Institutional Source

Beutler Lab

Gene Symbol

Gm973

Ensembl Gene

ENSMUSG00000047361

Gene Name

predicted gene 973

Synonyms

LOC381260

MMRRC Submission

044930-MU

Accession Numbers

Essential gene?

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

Stock #

R6818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59555423-59675576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59669328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 793 (L793P)

Ref Sequence

ENSEMBL: ENSMUSP00000109881 (fasta)

Gene Model

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

AlphaFold

E9Q295

Predicted Effect

probably damaging
Transcript: ENSMUST00000114243
AA Change: L793P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: L793P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190490

Coding Region Coverage

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

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,865,089 (GRCm39)		probably null	Het
Acot4	A	C	12: 84,088,783 (GRCm39)	E210D	probably damaging	Het
Adamts9	A	C	6: 92,882,172 (GRCm39)	S476A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Ambp	G	T	4: 63,072,243 (GRCm39)	S17*	probably null	Het
Anxa6	T	A	11: 54,870,326 (GRCm39)	M662L	probably benign	Het
Atp11b	T	C	3: 35,868,329 (GRCm39)	I467T	possibly damaging	Het
B3gat1	G	T	9: 26,662,998 (GRCm39)		probably benign	Het
Bccip	T	G	7: 133,319,488 (GRCm39)	I193S	probably damaging	Het
Ccdc170	A	G	10: 4,491,782 (GRCm39)	E401G	probably damaging	Het
Cldn16	A	G	16: 26,296,257 (GRCm39)	T78A	probably damaging	Het
Cldn24	G	T	8: 48,275,757 (GRCm39)	A194S	probably benign	Het
Cltc	A	G	11: 86,595,054 (GRCm39)	V1348A	possibly damaging	Het
Clvs1	T	C	4: 9,282,014 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,235,341 (GRCm39)	D1161N	probably damaging	Het
Cuzd1	A	G	7: 130,918,394 (GRCm39)	V181A	probably damaging	Het
Dhx30	A	G	9: 109,917,099 (GRCm39)	I435T	probably damaging	Het
Dip2b	T	C	15: 100,091,835 (GRCm39)	V858A	probably benign	Het
Dnmt3b	C	T	2: 153,528,204 (GRCm39)	T822M	probably damaging	Het
Dock10	A	T	1: 80,593,082 (GRCm39)	F97I	possibly damaging	Het
Dock8	T	C	19: 25,146,865 (GRCm39)		probably null	Het
Dvl2	T	C	11: 69,900,099 (GRCm39)	L631P	probably damaging	Het
Faf2	T	A	13: 54,789,419 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,200,167 (GRCm39)	H969L	probably benign	Het
Fsip2	T	A	2: 82,815,544 (GRCm39)	V3759E	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
H2-M1	A	G	17: 36,981,327 (GRCm39)	I236T	probably damaging	Het
Hif1a	A	T	12: 73,992,337 (GRCm39)	R765*	probably null	Het
Htt	A	G	5: 34,940,111 (GRCm39)	K77E	probably damaging	Het
Ift172	G	T	5: 31,423,304 (GRCm39)	Q826K	probably benign	Het
Inafm1	C	T	7: 16,007,086 (GRCm39)	A44T	probably damaging	Het
Kctd4	A	G	14: 76,200,748 (GRCm39)	T240A	probably damaging	Het
Klk1	A	T	7: 43,878,883 (GRCm39)	I124F	probably damaging	Het
Krbox5	A	G	13: 67,981,986 (GRCm39)	Q66R	possibly damaging	Het
Kremen1	T	C	11: 5,145,051 (GRCm39)	T442A	probably benign	Het
Mei4	T	A	9: 81,907,574 (GRCm39)	D202E	probably benign	Het
Mest	T	A	6: 30,746,286 (GRCm39)	D284E	probably damaging	Het
Nsfl1c	T	A	2: 151,344,940 (GRCm39)	Y95*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Or10am5	T	C	7: 6,517,550 (GRCm39)	M293V	probably damaging	Het
Or2ak4	T	A	11: 58,648,783 (GRCm39)	C97*	probably null	Het
Or4k38	T	G	2: 111,165,659 (GRCm39)	I255L	probably benign	Het
Pgm1	T	A	4: 99,820,763 (GRCm39)	I220N	probably damaging	Het
Pirt	T	A	11: 66,816,719 (GRCm39)	V10E	possibly damaging	Het
Prl7d1	C	A	13: 27,898,454 (GRCm39)	M19I	probably benign	Het
Samhd1	T	C	2: 156,949,417 (GRCm39)	N490D	probably benign	Het
Scn2a	C	A	2: 65,519,013 (GRCm39)	S413*	probably null	Het
Serpinb6e	A	T	13: 34,016,337 (GRCm39)		probably null	Het
Slitrk5	A	G	14: 111,917,726 (GRCm39)	D450G	probably benign	Het
Tchh	A	G	3: 93,350,718 (GRCm39)	T53A	probably damaging	Het
Tmem44	A	T	16: 30,362,039 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,448 (GRCm39)	E114G	possibly damaging	Het
Treml2	A	G	17: 48,609,925 (GRCm39)	Y119C	probably damaging	Het
Ubxn1	T	A	19: 8,851,245 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,222,147 (GRCm39)	M691K	probably benign	Het
Vmn2r97	A	T	17: 19,168,193 (GRCm39)	I816F	possibly damaging	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	Het
Wfdc2	T	C	2: 164,405,070 (GRCm39)		probably null	Het
Zscan4-ps3	T	C	7: 11,346,986 (GRCm39)	S341P	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
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
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'- AGGTCACGCTTCTTCTATTAGC -3'
(R):5'- GTGAGAACACCTGTCCATACC -3'

Sequencing Primer
(F):5'- AGCCATACCTCTGTCCCAATTG -3'
(R):5'- CCTTGGAAGGGTCTTCATGGC -3'

Posted On

2018-10-18