Mutagenetix > Incidental Mutation

Incidental Mutation 'R5720:Gm11595'

451418

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

043188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99662540-99663739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99663381 bp (GRCm39)

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: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,228,802 (GRCm39)	T1125A	possibly damaging	Het
Cplane1	T	A	15: 8,233,171 (GRCm39)	N1165K	probably benign	Het
Ctf1	A	T	7: 127,316,174 (GRCm39)		probably null	Het
Defb26	T	C	2: 152,350,122 (GRCm39)	N53D	possibly damaging	Het
Dhtkd1	T	C	2: 5,907,825 (GRCm39)	T787A	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxl7	A	G	15: 26,552,979 (GRCm39)	L96P	probably damaging	Het
Gpr65	A	T	12: 98,241,361 (GRCm39)	S5C	probably damaging	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Itga8	G	A	2: 12,115,898 (GRCm39)	S76L	probably damaging	Het
Mpdz	A	T	4: 81,205,931 (GRCm39)	F1810Y	probably damaging	Het
Nfrkb	T	C	9: 31,306,038 (GRCm39)	L126P	probably damaging	Het
Or4a77	T	C	2: 89,487,299 (GRCm39)	Y162C	probably benign	Het
Primpol	A	G	8: 47,034,677 (GRCm39)	V417A	probably damaging	Het
Pus1	C	T	5: 110,925,584 (GRCm39)	E79K	probably damaging	Het
Rspo2	C	T	15: 43,033,210 (GRCm39)	C4Y	probably benign	Het
Serpina12	T	C	12: 104,004,563 (GRCm39)	D23G	probably benign	Het
Serpind1	A	T	16: 17,157,696 (GRCm39)	R297S	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc17a6	C	T	7: 51,275,145 (GRCm39)	P68L	probably damaging	Het
Slc6a5	C	T	7: 49,606,264 (GRCm39)	P724L	possibly damaging	Het
Spaca7	A	G	8: 12,649,004 (GRCm39)	E166G	possibly damaging	Het
Supt5	A	G	7: 28,021,993 (GRCm39)	S345P	probably damaging	Het
Syne2	G	A	12: 76,014,441 (GRCm39)	D3211N	probably benign	Het
Tmem132e	G	A	11: 82,333,276 (GRCm39)		probably null	Het
Trappc14	A	G	5: 138,261,964 (GRCm39)	V44A	probably benign	Het
Zfp384	T	C	6: 125,013,587 (GRCm39)	S536P	probably benign	Het

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00579:Gm11595	APN	11	99,662,868 (GRCm39)	missense	unknown
IGL00987:Gm11595	APN	11	99,663,365 (GRCm39)	missense	unknown
IGL01662:Gm11595	APN	11	99,663,498 (GRCm39)	missense	unknown
IGL01994:Gm11595	APN	11	99,663,027 (GRCm39)	missense	unknown
R0548:Gm11595	UTSW	11	99,662,967 (GRCm39)	missense	unknown
R1923:Gm11595	UTSW	11	99,663,365 (GRCm39)	missense	unknown
R2127:Gm11595	UTSW	11	99,663,327 (GRCm39)	missense	unknown
R2128:Gm11595	UTSW	11	99,663,327 (GRCm39)	missense	unknown
R3807:Gm11595	UTSW	11	99,663,380 (GRCm39)	missense	unknown
R4007:Gm11595	UTSW	11	99,662,861 (GRCm39)	missense	unknown
R5281:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5283:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5303:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5305:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5306:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5307:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5308:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5561:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5637:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5639:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5718:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5719:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5721:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5769:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5770:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5771:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5791:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5841:Gm11595	UTSW	11	99,663,143 (GRCm39)	missense	unknown
R6054:Gm11595	UTSW	11	99,663,474 (GRCm39)	missense	unknown
R6277:Gm11595	UTSW	11	99,663,510 (GRCm39)	missense	unknown
R6281:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6282:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6310:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6321:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6322:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6327:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6337:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6368:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6369:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6431:Gm11595	UTSW	11	99,663,600 (GRCm39)	missense	unknown
R6483:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6485:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6493:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6758:Gm11595	UTSW	11	99,663,367 (GRCm39)	nonsense	probably null
R6758:Gm11595	UTSW	11	99,663,366 (GRCm39)	missense	unknown
R7037:Gm11595	UTSW	11	99,663,474 (GRCm39)	missense	unknown
R8053:Gm11595	UTSW	11	99,662,954 (GRCm39)	missense	unknown
R8911:Gm11595	UTSW	11	99,663,564 (GRCm39)	missense	unknown
R9632:Gm11595	UTSW	11	99,663,097 (GRCm39)	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

2017-01-03