Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Gm11595'

512863

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6369 (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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343 (GRCm38)	R571*	probably null	Het
Asb18	A	T	1: 90,014,471 (GRCm38)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985 (GRCm38)	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555 (GRCm38)	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745 (GRCm38)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701 (GRCm38)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485 (GRCm38)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176 (GRCm38)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984 (GRCm38)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555 (GRCm38)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462 (GRCm38)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004 (GRCm38)		probably benign	Het
Ctnna2	A	G	6: 76,980,695 (GRCm38)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568 (GRCm38)		probably null	Het
Ero1l	T	C	14: 45,299,958 (GRCm38)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331 (GRCm38)	M344T	unknown	Het
Frem1	A	T	4: 82,913,792 (GRCm38)		probably null	Het
Gjb5	G	T	4: 127,355,930 (GRCm38)	D140E	possibly damaging	Het
Hk2	G	T	6: 82,736,753 (GRCm38)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601 (GRCm38)	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660 (GRCm38)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694 (GRCm38)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562 (GRCm38)	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559 (GRCm38)	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187 (GRCm38)	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076 (GRCm38)	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222 (GRCm38)	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496 (GRCm38)	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028 (GRCm38)	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734 (GRCm38)		probably null	Het
Pnpla1	T	A	17: 28,878,481 (GRCm38)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542 (GRCm38)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412 (GRCm38)		probably null	Het
Rad52	A	G	6: 119,914,207 (GRCm38)	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189 (GRCm38)		probably null	Het
Rasgrf2	T	C	13: 92,131,446 (GRCm38)	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313 (GRCm38)	M411T	unknown	Het
Reln	A	G	5: 22,051,361 (GRCm38)	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942 (GRCm38)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702 (GRCm38)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962 (GRCm38)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753 (GRCm38)	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293 (GRCm38)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370 (GRCm38)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984 (GRCm38)	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604 (GRCm38)	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590 (GRCm38)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm38)	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743 (GRCm38)	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285 (GRCm38)		probably null	Het
Uox	C	T	3: 146,624,577 (GRCm38)	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602 (GRCm38)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444 (GRCm38)	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897 (GRCm38)	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968 (GRCm38)	R189H	possibly damaging	Homo

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00579:Gm11595	APN	11	99,772,042 (GRCm38)	missense	unknown
IGL00987:Gm11595	APN	11	99,772,539 (GRCm38)	missense	unknown
IGL01662:Gm11595	APN	11	99,772,672 (GRCm38)	missense	unknown
IGL01994:Gm11595	APN	11	99,772,201 (GRCm38)	missense	unknown
R0548:Gm11595	UTSW	11	99,772,141 (GRCm38)	missense	unknown
R1923:Gm11595	UTSW	11	99,772,539 (GRCm38)	missense	unknown
R2127:Gm11595	UTSW	11	99,772,501 (GRCm38)	missense	unknown
R2128:Gm11595	UTSW	11	99,772,501 (GRCm38)	missense	unknown
R3807:Gm11595	UTSW	11	99,772,554 (GRCm38)	missense	unknown
R4007:Gm11595	UTSW	11	99,772,035 (GRCm38)	missense	unknown
R5281:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5283:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5303:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5305:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5306:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5307:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5308:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5561:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5637:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5639:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5718:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5719:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5720:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5721:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5769:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5770:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5771:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5791:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5841:Gm11595	UTSW	11	99,772,317 (GRCm38)	missense	unknown
R6054:Gm11595	UTSW	11	99,772,648 (GRCm38)	missense	unknown
R6277:Gm11595	UTSW	11	99,772,684 (GRCm38)	missense	unknown
R6281:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6282:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6310:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6321:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6322:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6327:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6337:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6368:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6431:Gm11595	UTSW	11	99,772,774 (GRCm38)	missense	unknown
R6483:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6485:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6493:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6758:Gm11595	UTSW	11	99,772,541 (GRCm38)	nonsense	probably null
R6758:Gm11595	UTSW	11	99,772,540 (GRCm38)	missense	unknown
R7037:Gm11595	UTSW	11	99,772,648 (GRCm38)	missense	unknown
R8053:Gm11595	UTSW	11	99,772,128 (GRCm38)	missense	unknown
R8911:Gm11595	UTSW	11	99,772,738 (GRCm38)	missense	unknown
R9632:Gm11595	UTSW	11	99,772,271 (GRCm38)	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

2018-04-27