Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Gm11595'

404519

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

042888-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5305 (G1)

Quality Score

225

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 82,059,219	V11M	possibly damaging	Het
Acot8	A	G	2: 164,795,765	V179A	probably benign	Het
Actb	A	G	5: 142,904,230	I194T	probably benign	Het
Ap1g2	A	G	14: 55,099,076	V787A	probably benign	Het
Areg	G	T	5: 91,144,449	A203S	probably damaging	Het
Asb13	A	T	13: 3,643,479	D79V	probably damaging	Het
Atad2b	C	T	12: 4,965,855	T527I	probably damaging	Het
Auts2	T	G	5: 131,443,794		probably benign	Het
Ceacam3	T	A	7: 17,151,576	S35T	probably damaging	Het
Crebzf	T	C	7: 90,444,134		probably benign	Het
Cttnbp2	G	T	6: 18,381,098	N1366K	probably benign	Het
Cubn	C	A	2: 13,388,939	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,790,793	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690		probably benign	Het
Eps8l1	A	G	7: 4,477,896	S613G	possibly damaging	Het
Erich6	T	G	3: 58,625,116	I357L	probably benign	Het
Foxj3	T	A	4: 119,619,958	S288T	possibly damaging	Het
Gls2	T	G	10: 128,204,709	Y326*	probably null	Het
Gm7535	T	C	17: 17,911,799		probably benign	Het
Gxylt2	T	G	6: 100,787,218	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,160,501	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,389,279	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,803,705	R17H	probably damaging	Het
Mtf2	A	G	5: 108,104,499	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,346,321	L66R	probably benign	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,571,487	Y176*	probably null	Het
Obscn	T	C	11: 59,012,715	T7628A	possibly damaging	Het
Olfr1353	A	T	10: 78,970,556	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,215,840	V129G	probably damaging	Het
Polr2e	A	G	10: 80,038,063		probably benign	Het
Ppard	A	G	17: 28,298,858	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,550,917	V46A	probably benign	Het
Prex2	T	A	1: 11,107,678	V332E	probably damaging	Het
Prss30	T	G	17: 23,972,776	Y257S	probably benign	Het
Ptprd	T	C	4: 75,982,626	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,181,077	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,797,381	V389A	possibly damaging	Het
Rims1	T	A	1: 22,596,542	R119S	probably damaging	Het
Sema3b	T	C	9: 107,603,337	H137R	probably null	Het
Sf3b4	G	C	3: 96,173,642	A89P	probably damaging	Het
Sgta	T	A	10: 81,046,247	Q298L	probably damaging	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982	D226V	unknown	Het
Sv2a	A	G	3: 96,185,458	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,381,863		probably benign	Het
Thbs3	T	A	3: 89,217,976		probably benign	Het
Top3a	A	T	11: 60,762,539	N56K	possibly damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Tyk2	T	C	9: 21,109,381	D918G	probably damaging	Het
Uqcrh	A	G	4: 116,067,284		probably benign	Het
Vmn1r61	A	G	7: 5,610,815	S167P	probably damaging	Het
Wdr25	C	A	12: 109,026,440	H74N	probably damaging	Het
Zfp458	T	C	13: 67,256,318	N686D	probably benign	Het
Zfp574	T	A	7: 25,081,090	H512Q		Het
Zfp976	A	T	7: 42,613,478	Y312N	probably benign	Het
Zscan4c	G	A	7: 11,009,535	V354I	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
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
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'- ACCATGGTCAGTTCCTGTTG -3'

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

Posted On

2016-07-22