Mutagenetix > Incidental Mutation

Incidental Mutation 'R6321:Gm11595'

510357

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6321 (G1)

Quality Score

225.009

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Actbl2	G	T	13: 111,255,381	M83I	probably damaging	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,468,128	R274S	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,745,657	H180Q	probably benign	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,949,372	V372A	probably benign	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably damaging	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
R6282:Gm11595	UTSW	11	99772555	missense	unknown
R6310: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

2018-04-02