Mutagenetix > Incidental Mutation

Incidental Mutation 'R4483:AW112010'

331514

Institutional Source

Beutler Lab

Gene Symbol

AW112010

Ensembl Gene

ENSMUSG00000075010

Gene Name

expressed sequence AW112010

Synonyms

MMRRC Submission

041739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11024976-11027930 bp(-) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

A to G at 11027757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099676

SMART Domains

Protein: ENSMUSP00000097268
Gene: ENSMUSG00000075010

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,567,349 (GRCm39)	G5275S	probably benign	Het
Akap11	A	G	14: 78,747,699 (GRCm39)	S1563P	probably damaging	Het
Ankrd50	A	G	3: 38,511,680 (GRCm39)	V229A	probably damaging	Het
Ccdc158	A	G	5: 92,781,187 (GRCm39)	S873P	probably benign	Het
Cep350	A	G	1: 155,802,214 (GRCm39)	V1104A	probably benign	Het
Chil4	G	A	3: 106,121,678 (GRCm39)	A57V	probably damaging	Het
Cpa5	A	G	6: 30,624,625 (GRCm39)	E155G	probably damaging	Het
Ctsq	T	C	13: 61,186,726 (GRCm39)	I93V	probably benign	Het
Dbi	A	T	1: 120,048,535 (GRCm39)	I37K	probably benign	Het
Defa35	T	C	8: 21,555,208 (GRCm39)	S43P	probably damaging	Het
Fance	T	A	17: 28,534,781 (GRCm39)		probably benign	Het
Fbxl6	A	G	15: 76,422,129 (GRCm39)	L180P	probably damaging	Het
Fkbpl	T	C	17: 34,865,269 (GRCm39)	F346L	probably damaging	Het
Gm11735	C	A	11: 116,632,101 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,866,321 (GRCm39)	I373T	possibly damaging	Het
Golga4	T	C	9: 118,343,254 (GRCm39)	S27P	probably damaging	Het
Gstm1	C	T	3: 107,923,834 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,682,310 (GRCm39)	I1092K	probably benign	Het
Med15	A	T	16: 17,489,428 (GRCm39)		probably benign	Het
Nlrp6	A	G	7: 140,501,694 (GRCm39)	D87G	probably damaging	Het
Parp11	A	G	6: 127,448,568 (GRCm39)	T62A	probably benign	Het
Pcnt	A	G	10: 76,237,317 (GRCm39)	L1323S	probably damaging	Het
Ppp2r1a	C	T	17: 21,176,072 (GRCm39)	T98I	probably benign	Het
Pramel11	T	A	4: 143,622,410 (GRCm39)	Y315F	probably damaging	Het
Prl7a2	T	A	13: 27,844,930 (GRCm39)	H152L	possibly damaging	Het
Rnf145	T	C	11: 44,455,104 (GRCm39)	S662P	probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Tnfaip3	A	T	10: 18,887,375 (GRCm39)	M50K	probably damaging	Het
Txlnb	T	TTA	10: 17,714,745 (GRCm39)		probably null	Het
Usp9x	A	G	X: 12,987,687 (GRCm39)	D638G	possibly damaging	Het
Vmn1r30	A	T	6: 58,412,118 (GRCm39)	V238E	probably damaging	Het
Zfp507	A	G	7: 35,487,141 (GRCm39)		probably null	Het
Zfp532	G	T	18: 65,789,636 (GRCm39)	W1025L	probably benign	Het

Other mutations in AW112010

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01532:AW112010	APN	19	11,025,433 (GRCm39)	exon	noncoding transcript
IGL02402:AW112010	APN	19	11,025,741 (GRCm39)	exon	noncoding transcript
IGL02498:AW112010	APN	19	11,025,701 (GRCm39)	exon	noncoding transcript
IGL03014:AW112010	UTSW	19	11,025,456 (GRCm39)	splice site	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TGTCAGACAGGAGATACCCACC -3'
(R):5'- GCTGTGTTTGCAGATCTTCC -3'

Sequencing Primer
(F):5'- CCCACAAGAACTATATCTTCCTGG -3'
(R):5'- TGGGATAGGCCAACTAATTGTG -3'

Posted On

2015-07-21