Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Gm11437'

63984

Institutional Source

Beutler Lab

Gene Symbol

Gm11437

Ensembl Gene

ENSMUSG00000051452

Gene Name

predicted gene 11437

Synonyms

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0076 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

84039187-84058302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84039462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 288 (T288A)

Ref Sequence

ENSEMBL: ENSMUSP00000056084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050771] [ENSMUST00000133811]

AlphaFold

Q5QR91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050771
AA Change: T288A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056084
Gene: ENSMUSG00000051452
AA Change: T288A

Domain	Start	End	E-Value	Type
Pfam:DUF4711	1	226	7.4e-102	PFAM
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133811

SMART Domains

Protein: ENSMUSP00000116174
Gene: ENSMUSG00000020532

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PDB:2YL2\|B	115	157	2e-21	PDB

Meta Mutation Damage Score

0.1099

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Ccnd1	A	C	7: 144,493,402 (GRCm39)	V10G	probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Crlf3	A	T	11: 79,947,427 (GRCm39)		probably benign	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Galntl5	A	G	5: 25,391,070 (GRCm39)		probably null	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Hnrnpa3	G	T	2: 75,492,040 (GRCm39)	R52L	probably damaging	Het
Ing3	T	C	6: 21,952,170 (GRCm39)	M48T	probably benign	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,383 (GRCm39)		probably null	Het
Pex3	A	G	10: 13,411,338 (GRCm39)	V180A	probably benign	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ror2	T	C	13: 53,267,110 (GRCm39)	M442V	probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Sgcz	A	G	8: 38,012,596 (GRCm39)		probably benign	Het
Slc16a7	A	T	10: 125,063,939 (GRCm39)	V466D	probably benign	Het
Tbl1xr1	T	A	3: 22,243,949 (GRCm39)	D74E	probably benign	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Ugt2b37	A	G	5: 87,402,080 (GRCm39)	S184P	probably benign	Het

Other mutations in Gm11437

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Gm11437	APN	11	84,039,448 (GRCm39)	intron	probably benign
IGL01354:Gm11437	APN	11	84,058,144 (GRCm39)	intron	probably benign
IGL02051:Gm11437	APN	11	84,043,592 (GRCm39)	missense	probably benign	0.00
IGL03184:Gm11437	APN	11	84,047,090 (GRCm39)	intron	probably benign
R0076:Gm11437	UTSW	11	84,039,462 (GRCm39)	missense	possibly damaging	0.91
R1241:Gm11437	UTSW	11	84,055,454 (GRCm39)	missense	possibly damaging	0.93
R2135:Gm11437	UTSW	11	84,044,638 (GRCm39)	missense	probably damaging	0.97
R4065:Gm11437	UTSW	11	84,055,337 (GRCm39)	missense	probably benign	0.13
R4067:Gm11437	UTSW	11	84,055,337 (GRCm39)	missense	probably benign	0.13
R5356:Gm11437	UTSW	11	84,043,513 (GRCm39)	missense	possibly damaging	0.90
R6571:Gm11437	UTSW	11	84,047,038 (GRCm39)	missense	probably benign	0.13
R6594:Gm11437	UTSW	11	84,055,386 (GRCm39)	missense	probably null	0.03
R7173:Gm11437	UTSW	11	84,055,374 (GRCm39)	missense	probably benign	0.39
R7368:Gm11437	UTSW	11	84,058,298 (GRCm39)	intron	probably benign
R8918:Gm11437	UTSW	11	84,043,530 (GRCm39)	missense	probably benign	0.01
X0026:Gm11437	UTSW	11	84,056,153 (GRCm39)	missense	possibly damaging	0.92
X0028:Gm11437	UTSW	11	84,046,926 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCATGGATGTAGCTCTGCTCAC -3'
(R):5'- CAACCATTGGCAGCAAAGAGGC -3'

Sequencing Primer
(F):5'- GTAGCTCTGCTCACCCCAG -3'
(R):5'- AGGCAAACTCAGGTGTCC -3'

Posted On

2013-08-06