Mutagenetix > Incidental Mutation

Incidental Mutation 'R5791:Gm11595'

446987

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

043207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99771714-99772913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99772555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 100 (R100C)

Ref Sequence

ENSEMBL: ENSMUSP00000103064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107440]

AlphaFold

B1AQA7

Predicted Effect

unknown
Transcript: ENSMUST00000107440
AA Change: R100C

SMART Domains

Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: R100C

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	7.5e-9	PFAM
Pfam:Keratin_B2_2	14	58	2.8e-13	PFAM
Pfam:Keratin_B2_2	29	73	1.2e-13	PFAM
Pfam:Keratin_B2_2	72	112	2.3e-12	PFAM
Pfam:Keratin_B2_2	107	152	4.6e-14	PFAM
Pfam:Keratin_B2_2	118	162	1.1e-13	PFAM
Pfam:Keratin_B2_2	143	187	3.5e-10	PFAM
Pfam:Keratin_B2_2	168	212	5.6e-13	PFAM
Pfam:Keratin_B2_2	178	222	2.4e-12	PFAM
Pfam:Keratin_B2_2	208	257	1.6e-11	PFAM
Pfam:Keratin_B2_2	223	267	4e-14	PFAM
Pfam:Keratin_B2_2	248	289	9e-9	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 40,754,220	Q174H	probably benign	Het
Adipor2	A	T	6: 119,361,905	M129K	possibly damaging	Het
AI314180	C	T	4: 58,814,027	E1360K	possibly damaging	Het
AI314180	T	A	4: 58,822,111	D1152V	probably damaging	Het
Arhgap29	T	A	3: 122,014,245	M616K	probably damaging	Het
Calcrl	A	T	2: 84,351,265	F180I	probably damaging	Het
Cdh4	T	C	2: 179,895,767	V864A	probably damaging	Het
Cep78	A	G	19: 15,961,072	F504S	probably benign	Het
Coasy	A	G	11: 101,084,385		probably null	Het
Dnah3	T	C	7: 119,931,473	N751S	probably benign	Het
Eea1	T	A	10: 96,019,995	N631K	probably benign	Het
Fam149b	A	G	14: 20,351,326	K27R	probably damaging	Het
Fbxw26	A	G	9: 109,745,153	W42R	probably damaging	Het
Gas6	A	G	8: 13,470,217		probably null	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gmppa	T	C	1: 75,442,255	V324A	possibly damaging	Het
Gstm2	C	T	3: 107,984,128		probably null	Het
Kcng3	A	G	17: 83,588,210	S276P	probably benign	Het
Lrrd1	T	C	5: 3,851,254	S520P	probably benign	Het
Lrrn2	A	G	1: 132,937,767	N190S	probably benign	Het
Lrwd1	G	C	5: 136,131,033	A392G	probably benign	Het
Mab21l2	A	G	3: 86,546,737	Y319H	probably damaging	Het
Ndufv3	A	G	17: 31,527,408	N91D	probably benign	Het
Nfatc2	T	A	2: 168,536,393	M451L	probably benign	Het
Olfr980	A	T	9: 40,006,734	S72T	probably damaging	Het
Pcdhgb2	G	T	18: 37,692,340	V795F	possibly damaging	Het
Pdcd11	T	A	19: 47,110,991	M843K	possibly damaging	Het
Pla2g4c	T	A	7: 13,339,692	N221K	probably benign	Het
Ppox	T	C	1: 171,277,312	Y422C	probably damaging	Het
Retreg3	A	G	11: 101,100,943	S55P	probably damaging	Het
Rnf103	C	A	6: 71,508,925	T180K	probably damaging	Het
Tbl3	A	T	17: 24,704,434	L307H	probably damaging	Het
Tex26	A	T	5: 149,439,775		probably null	Het
Tln2	A	T	9: 67,386,605	I247K	probably damaging	Het
Txlnb	T	C	10: 17,799,128	S10P	probably benign	Het
Vwde	C	A	6: 13,195,986	E347*	probably null	Het
Wasf1	G	A	10: 40,926,574	R75Q	probably damaging	Het
Zfp14	A	G	7: 30,038,262	S433P	probably damaging	Het
Zfp647	G	T	15: 76,918,006	A2E	unknown	Het

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00579:Gm11595	APN	11	99772042	missense	unknown
IGL00987:Gm11595	APN	11	99772539	missense	unknown
IGL01662:Gm11595	APN	11	99772672	missense	unknown
IGL01994:Gm11595	APN	11	99772201	missense	unknown
R0548:Gm11595	UTSW	11	99772141	missense	unknown
R1923:Gm11595	UTSW	11	99772539	missense	unknown
R2127:Gm11595	UTSW	11	99772501	missense	unknown
R2128:Gm11595	UTSW	11	99772501	missense	unknown
R3807:Gm11595	UTSW	11	99772554	missense	unknown
R4007:Gm11595	UTSW	11	99772035	missense	unknown
R5281:Gm11595	UTSW	11	99772555	missense	unknown
R5283:Gm11595	UTSW	11	99772555	missense	unknown
R5303:Gm11595	UTSW	11	99772555	missense	unknown
R5305:Gm11595	UTSW	11	99772555	missense	unknown
R5306:Gm11595	UTSW	11	99772555	missense	unknown
R5307:Gm11595	UTSW	11	99772555	missense	unknown
R5308:Gm11595	UTSW	11	99772555	missense	unknown
R5561:Gm11595	UTSW	11	99772555	missense	unknown
R5637:Gm11595	UTSW	11	99772555	missense	unknown
R5639:Gm11595	UTSW	11	99772555	missense	unknown
R5718:Gm11595	UTSW	11	99772555	missense	unknown
R5719:Gm11595	UTSW	11	99772555	missense	unknown
R5720:Gm11595	UTSW	11	99772555	missense	unknown
R5721:Gm11595	UTSW	11	99772555	missense	unknown
R5769:Gm11595	UTSW	11	99772555	missense	unknown
R5770:Gm11595	UTSW	11	99772555	missense	unknown
R5771:Gm11595	UTSW	11	99772555	missense	unknown
R5841:Gm11595	UTSW	11	99772317	missense	unknown
R6054:Gm11595	UTSW	11	99772648	missense	unknown
R6277:Gm11595	UTSW	11	99772684	missense	unknown
R6281:Gm11595	UTSW	11	99772555	missense	unknown
R6282:Gm11595	UTSW	11	99772555	missense	unknown
R6310:Gm11595	UTSW	11	99772555	missense	unknown
R6321:Gm11595	UTSW	11	99772555	missense	unknown
R6322:Gm11595	UTSW	11	99772555	missense	unknown
R6327:Gm11595	UTSW	11	99772555	missense	unknown
R6337:Gm11595	UTSW	11	99772555	missense	unknown
R6368:Gm11595	UTSW	11	99772555	missense	unknown
R6369:Gm11595	UTSW	11	99772555	missense	unknown
R6431:Gm11595	UTSW	11	99772774	missense	unknown
R6483:Gm11595	UTSW	11	99772555	missense	unknown
R6485:Gm11595	UTSW	11	99772555	missense	unknown
R6493:Gm11595	UTSW	11	99772555	missense	unknown
R6758:Gm11595	UTSW	11	99772540	missense	unknown
R6758:Gm11595	UTSW	11	99772541	nonsense	probably null
R7037:Gm11595	UTSW	11	99772648	missense	unknown
R8053:Gm11595	UTSW	11	99772128	missense	unknown
R8911:Gm11595	UTSW	11	99772738	missense	unknown
R9632:Gm11595	UTSW	11	99772271	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAACTACCACAGCAGGGG -3'
(R):5'- ACCATGGTCAGTTCCTGTTGTG -3'

Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'

Posted On

2016-12-15