Mutagenetix > Incidental Mutation

Incidental Mutation 'R7579:Gm11444'

586657

Institutional Source

Beutler Lab

Gene Symbol

Gm11444

Ensembl Gene

ENSMUSG00000069785

Gene Name

predicted gene 11444

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R7579 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85846790-85850333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85850243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000146433
AA Change: V30A

SMART Domains

Protein: ENSMUSP00000116236
Gene: ENSMUSG00000069785
AA Change: V30A

Domain	Start	End	E-Value	Type
low complexity region	130	143	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	G	T	7: 119,693,710	R21L	probably benign	Het
Adgb	T	A	10: 10,410,818	R120*	probably null	Het
Adgra3	C	A	5: 49,987,635	A539S	probably benign	Het
Ank2	A	G	3: 126,946,398	S1946P	unknown	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cdc20b	A	T	13: 113,037,048		probably null	Het
Cfh	T	G	1: 140,108,590	D730A	possibly damaging	Het
Dennd1a	T	C	2: 37,858,432	H345R	probably damaging	Het
Dhx36	T	C	3: 62,480,873	S614G	possibly damaging	Het
Dio1	C	T	4: 107,292,386	V240I	possibly damaging	Het
Dnah12	A	G	14: 26,770,503	D1200G	probably benign	Het
Dpy19l4	A	T	4: 11,265,909	S680T	probably benign	Het
Eef2	CCC	CCCC	10: 81,178,768		probably null	Het
Fcrlb	T	C	1: 170,907,847		probably null	Het
Gad1	T	A	2: 70,587,132	I253K	possibly damaging	Het
Gars	A	G	6: 55,077,703	D665G	probably damaging	Het
Gldn	A	G	9: 54,338,364	T400A	probably benign	Het
Gm1110	C	A	9: 26,883,826	V455L	possibly damaging	Het
Gm5134	T	C	10: 75,964,437	S51P	probably damaging	Het
Gprc6a	C	T	10: 51,626,787	A327T	probably benign	Het
Gstt2	A	T	10: 75,834,185	D34E	probably benign	Het
Icam2	A	G	11: 106,380,763	F78L	probably damaging	Het
Jakmip1	T	G	5: 37,127,458	C630G	possibly damaging	Het
Kcnu1	A	T	8: 25,896,658	N523I	probably damaging	Het
Klf10	A	G	15: 38,297,038	S253P	probably benign	Het
Mmd2	A	T	5: 142,608,606	M1K	probably null	Het
Mroh2b	G	T	15: 4,931,061	G759C	probably benign	Het
Olfr1079	C	T	2: 86,538,528	C127Y	probably damaging	Het
Olfr1493-ps1	T	C	19: 13,727,101	L280P	probably damaging	Het
Olfr1535	A	T	13: 21,556,006	N5K	probably benign	Het
Orc5	A	G	5: 22,550,199	F22S	possibly damaging	Het
Prlr	A	G	15: 10,328,935	I499V	probably benign	Het
Ptbp1	A	G	10: 79,859,120	N94S	probably benign	Het
Rassf3	C	A	10: 121,476,198		probably benign	Het
Rbm33	C	T	5: 28,368,266	P455S	probably damaging	Het
Sgcd	C	G	11: 47,125,654	G127A	possibly damaging	Het
Slc22a13	A	G	9: 119,195,160	I336T	possibly damaging	Het
Slc25a31	A	T	3: 40,725,040	D312V	possibly damaging	Het
Slc37a4	G	A	9: 44,401,521	S324N	probably benign	Het
Slco1a5	A	G	6: 142,275,481	V13A	probably benign	Het
Srgap2	T	C	1: 131,292,633	H907R	probably damaging	Het
Supv3l1	A	C	10: 62,435,708	V381G	probably damaging	Het
Supv3l1	C	A	10: 62,435,709	V381L	possibly damaging	Het
Syne1	T	C	10: 5,349,324	D977G	probably damaging	Het
Syt3	T	A	7: 44,390,848	Y168*	probably null	Het
Tshz1	A	T	18: 84,014,665	Y539*	probably null	Het
Ttll13	A	G	7: 80,258,233	K501R	probably benign	Het
Ttn	G	A	2: 76,782,388	Q17116*	probably null	Het
Vcan	T	C	13: 89,692,458	T1656A	probably damaging	Het
Vmn1r73	G	T	7: 11,757,155	C300F	probably benign	Het
Vmn2r9	T	C	5: 108,845,082	K521E	probably damaging	Het
Zdhhc11	T	A	13: 73,982,766		probably benign	Het
Zfp760	T	C	17: 21,722,926	S361P	possibly damaging	Het
Zranb2	A	G	3: 157,540,672	Y114C	probably damaging	Het

Other mutations in Gm11444

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01298:Gm11444	APN	11	85848094	missense	unknown
R1958:Gm11444	UTSW	11	85848173	splice site	probably benign
R5199:Gm11444	UTSW	11	85848019	missense	unknown
R6283:Gm11444	UTSW	11	85846791	splice site	probably null
R7088:Gm11444	UTSW	11	85847036	missense
R8378:Gm11444	UTSW	11	85850249	missense
R8708:Gm11444	UTSW	11	85846897	missense
R9803:Gm11444	UTSW	11	85846873	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGAGATCTCTGTGCTGTTCC -3'
(R):5'- AGGGTATCACAGAGAACCATTG -3'

Sequencing Primer
(F):5'- CCTGCAGTGTCCCAGGTGTAC -3'
(R):5'- AGAGAACCATTGCCCTGGC -3'

Posted On

2019-10-24