Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Gm11595'

508009

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R6282 (G1)

Quality Score

221.009

Status

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
C87499	T	C	4: 88,630,054	E38G	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,120,020	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,297,971	D287E	probably benign	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Rbm25	T	C	12: 83,676,089	M762T	probably damaging	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vash2	T	C	1: 190,960,225	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,797,009		probably benign	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	probably benign	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
R5791: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
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

2018-03-15