Mutagenetix > Incidental Mutation

Incidental Mutation 'R9702:Gm11992'

729629

Institutional Source

Beutler Lab

Gene Symbol

Gm11992

Ensembl Gene

ENSMUSG00000040978

Gene Name

predicted gene 11992

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9702 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8998592-9019354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9006568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 166 (V166G)

Ref Sequence

ENSEMBL: ENSMUSP00000039806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043285]

AlphaFold

Q5SS90

Predicted Effect

probably benign
Transcript: ENSMUST00000043285
AA Change: V166G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: V166G

Domain	Start	End	E-Value	Type
low complexity region	244	255	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,107,378 (GRCm39)	Y746H	probably damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,202 (GRCm39)	R493H	possibly damaging	Het
Apob	G	T	12: 8,057,559 (GRCm39)	A2014S	probably damaging	Het
Bdnf	A	T	2: 109,554,117 (GRCm39)	M164L	possibly damaging	Het
Ccdc187	C	T	2: 26,172,222 (GRCm39)	V287M	unknown	Het
Cd164	G	A	10: 41,404,818 (GRCm39)	R192Q	probably damaging	Het
Cd84	T	C	1: 171,700,498 (GRCm39)	V205A	probably benign	Het
Cfap161	T	A	7: 83,442,652 (GRCm39)	M54L	probably benign	Het
Crim1	T	A	17: 78,681,516 (GRCm39)	V990E	probably damaging	Het
Dsc1	A	G	18: 20,227,685 (GRCm39)	F518L	probably benign	Het
Esyt1	G	A	10: 128,356,607 (GRCm39)	S346L	probably damaging	Het
Fbxo30	G	T	10: 11,166,382 (GRCm39)	C368F	probably benign	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Gfra4	T	A	2: 130,884,539 (GRCm39)	S22C	probably benign	Het
Gp1bb	A	T	16: 18,439,884 (GRCm39)	L70Q	probably damaging	Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Kynu	T	A	2: 43,479,469 (GRCm39)	M121K	probably damaging	Het
Ldb3	A	G	14: 34,299,090 (GRCm39)	V178A	probably benign	Het
Lrrc31	A	G	3: 30,735,226 (GRCm39)	L350P	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrps23	C	T	11: 88,100,998 (GRCm39)	T121M	probably damaging	Het
Nlrp4c	T	A	7: 6,068,801 (GRCm39)	V234E	probably benign	Het
Or51f1e	T	C	7: 102,747,343 (GRCm39)	Y132H	probably damaging	Het
Pign	A	T	1: 105,485,212 (GRCm39)	D782E	probably damaging	Het
Rab11b	C	A	17: 33,968,026 (GRCm39)	R82L	possibly damaging	Het
Sema3c	T	C	5: 17,858,828 (GRCm39)	S76P	probably damaging	Het
Slc28a2b	T	A	2: 122,354,012 (GRCm39)	I546N	probably damaging	Het
Sobp	T	C	10: 42,897,944 (GRCm39)	N547S	probably benign	Het
Tigd3	G	A	19: 5,942,836 (GRCm39)	T98M	probably damaging	Het
Tox	T	G	4: 6,697,418 (GRCm39)	M462L	probably benign	Het
Vmn1r158	T	A	7: 22,490,065 (GRCm39)	Q48L	probably benign	Het
Vps8	A	G	16: 21,462,883 (GRCm39)	T1383A	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp108	C	T	7: 23,960,195 (GRCm39)	T262I	probably benign	Het

Other mutations in Gm11992

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Gm11992	APN	11	9,018,383 (GRCm39)	makesense	probably null
IGL01837:Gm11992	APN	11	9,011,266 (GRCm39)	missense	probably damaging	1.00
IGL02405:Gm11992	APN	11	9,009,939 (GRCm39)	missense	probably benign	0.00
IGL02875:Gm11992	APN	11	9,002,887 (GRCm39)	unclassified	probably benign
P0023:Gm11992	UTSW	11	9,002,846 (GRCm39)	missense	probably damaging	1.00
R5100:Gm11992	UTSW	11	9,011,290 (GRCm39)	missense	probably damaging	0.99
R5471:Gm11992	UTSW	11	9,018,333 (GRCm39)	critical splice acceptor site	probably null
R5935:Gm11992	UTSW	11	9,002,711 (GRCm39)	missense	probably damaging	1.00
R6715:Gm11992	UTSW	11	9,011,214 (GRCm39)	missense	probably damaging	1.00
R7559:Gm11992	UTSW	11	9,002,747 (GRCm39)	missense	possibly damaging	0.94
R7910:Gm11992	UTSW	11	8,999,165 (GRCm39)	missense	probably damaging	1.00
R8397:Gm11992	UTSW	11	9,011,305 (GRCm39)	missense	probably damaging	1.00
R9696:Gm11992	UTSW	11	9,006,438 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCCAGGCTTTGACTTGTC -3'
(R):5'- ACCAAGTACTGAGCTCAGAGG -3'

Sequencing Primer
(F):5'- CCCGTTCACCCTTGCAGAG -3'
(R):5'- GCTCAGAGGTCAAGCATAGAACTC -3'

Posted On

2022-10-06