Mutagenetix > Incidental Mutation

Incidental Mutation 'R4985:Gm11568'

385844

Institutional Source

Beutler Lab

Gene Symbol

Gm11568

Ensembl Gene

ENSMUSG00000069717

Gene Name

predicted gene 11568

Synonyms

MMRRC Submission

042579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99748743-99749886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99749274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 160 (P160T)

Ref Sequence

ENSEMBL: ENSMUSP00000103057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107434]

AlphaFold

A2A4M2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083073

Predicted Effect

unknown
Transcript: ENSMUST00000107434
AA Change: P160T

SMART Domains

Protein: ENSMUSP00000103057
Gene: ENSMUSG00000069717
AA Change: P160T

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	84	129	1.7e-9	PFAM
Pfam:Keratin_B2_2	103	147	7.7e-10	PFAM
Pfam:Keratin_B2_2	118	168	2.4e-6	PFAM
Pfam:Keratin_B2_2	147	189	3.8e-8	PFAM
low complexity region	195	206	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921508M14Rik	A	T	12: 34,924,457 (GRCm39)		probably benign	Het
Actn4	A	G	7: 28,618,411 (GRCm39)	L83P	probably damaging	Het
Adgb	T	C	10: 10,276,376 (GRCm39)	R331G	possibly damaging	Het
Bmal1	T	C	7: 112,884,280 (GRCm39)	V106A	probably damaging	Het
Brf1	G	T	12: 112,932,990 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,820 (GRCm39)	T556I	probably damaging	Het
Cdkn2aip	G	T	8: 48,166,480 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,901,772 (GRCm39)	E399G	possibly damaging	Het
Col9a3	G	A	2: 180,245,193 (GRCm39)	R134H	unknown	Het
Ddb2	T	C	2: 91,042,643 (GRCm39)		probably null	Het
Dlg1	A	G	16: 31,606,953 (GRCm39)		probably null	Het
Dnah1	T	G	14: 31,008,855 (GRCm39)	E1973A	probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
E130308A19Rik	A	G	4: 59,691,017 (GRCm39)	T284A	probably benign	Het
Ecm1	C	T	3: 95,643,415 (GRCm39)	R295H	possibly damaging	Het
Efcab5	T	A	11: 77,029,055 (GRCm39)	H92L	probably damaging	Het
Egfr	C	A	11: 16,809,029 (GRCm39)	Y74*	probably null	Het
Fbxo10	T	C	4: 45,040,692 (GRCm39)	I838V	probably benign	Het
Gfod2	C	T	8: 106,454,643 (GRCm39)	R79Q	probably damaging	Het
Gm29106	A	T	1: 118,126,950 (GRCm39)	D214V	probably benign	Het
Htr3b	C	A	9: 48,847,241 (GRCm39)	V425F	possibly damaging	Het
Krt86	A	T	15: 101,375,146 (GRCm39)	E347V	probably damaging	Het
Lamc2	T	C	1: 153,012,551 (GRCm39)	I708V	probably benign	Het
Ldb2	T	A	5: 44,637,645 (GRCm39)	K221I	probably damaging	Het
Lmntd2	A	C	7: 140,793,190 (GRCm39)	S127R	probably benign	Het
Lrba	A	G	3: 86,234,743 (GRCm39)		probably null	Het
Mettl26	T	A	17: 26,095,750 (GRCm39)	*202R	probably null	Het
Mmp24	A	G	2: 155,656,016 (GRCm39)	K485E	probably damaging	Het
Nap1l1	T	C	10: 111,325,944 (GRCm39)	C88R	probably benign	Het
Or2d2	C	A	7: 106,728,234 (GRCm39)	R122L	probably damaging	Het
Or8b49	T	A	9: 38,505,658 (GRCm39)	I47N	possibly damaging	Het
Pafah1b1	T	G	11: 74,576,814 (GRCm39)	D159A	probably damaging	Het
Pcdhga7	T	C	18: 37,848,698 (GRCm39)	V235A	probably benign	Het
Pcf11	T	C	7: 92,311,110 (GRCm39)	T293A	probably benign	Het
Pidd1	A	C	7: 141,018,504 (GRCm39)	*916E	probably null	Het
Pip4k2c	T	C	10: 127,035,244 (GRCm39)	I375V	probably benign	Het
Pou3f2	A	T	4: 22,487,588 (GRCm39)	S182T	probably benign	Het
Rin3	A	T	12: 102,334,821 (GRCm39)	D164V	unknown	Het
Rnf8	T	C	17: 29,845,834 (GRCm39)	S199P	possibly damaging	Het
Serpina6	A	G	12: 103,620,195 (GRCm39)	S185P	probably benign	Het
Slc47a2	C	A	11: 61,193,059 (GRCm39)	V565L	probably benign	Het
Slfn4	T	A	11: 83,078,033 (GRCm39)	F274I	probably damaging	Het
Tgif1	T	C	17: 71,151,867 (GRCm39)	Y248C	probably benign	Het
Tlx1	C	A	19: 45,139,421 (GRCm39)	Q23K	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Tspyl1	G	A	10: 34,158,334 (GRCm39)	D20N	probably benign	Het
Vmn1r159	A	T	7: 22,542,959 (GRCm39)	F24L	probably damaging	Het
Vmn1r204	T	A	13: 22,741,230 (GRCm39)	V287D	probably damaging	Het
Zdhhc18	A	G	4: 133,340,228 (GRCm39)		probably null	Het
Zfp276	T	G	8: 123,994,646 (GRCm39)	V571G	probably damaging	Het

Other mutations in Gm11568

Allele	Source	Chr	Coord	Type	Predicted Effect
R0483:Gm11568	UTSW	11	99,749,209 (GRCm39)	missense	unknown
R0558:Gm11568	UTSW	11	99,748,872 (GRCm39)	missense	unknown
R1053:Gm11568	UTSW	11	99,748,887 (GRCm39)	missense	unknown
R2273:Gm11568	UTSW	11	99,749,070 (GRCm39)	missense	unknown
R2274:Gm11568	UTSW	11	99,749,070 (GRCm39)	missense	unknown
R2275:Gm11568	UTSW	11	99,749,070 (GRCm39)	missense	unknown
R4436:Gm11568	UTSW	11	99,749,421 (GRCm39)	missense	unknown
R5078:Gm11568	UTSW	11	99,749,181 (GRCm39)	missense	unknown
R5083:Gm11568	UTSW	11	99,748,798 (GRCm39)	start codon destroyed	probably null
R6879:Gm11568	UTSW	11	99,749,053 (GRCm39)	missense	unknown
R7486:Gm11568	UTSW	11	99,749,292 (GRCm39)	missense	unknown
R7855:Gm11568	UTSW	11	99,749,010 (GRCm39)	missense	unknown
R9496:Gm11568	UTSW	11	99,749,044 (GRCm39)	small insertion	probably benign
R9500:Gm11568	UTSW	11	99,749,065 (GRCm39)	small insertion	probably benign
R9500:Gm11568	UTSW	11	99,749,044 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTCAAACCACCTGCTGCAG -3'
(R):5'- CATGGTAAGTTAATCAACAGCCAC -3'

Sequencing Primer
(F):5'- AGCTGTTGTCAGTCCAGC -3'
(R):5'- GTAAGTTAATCAACAGCCACAGGGC -3'

Posted On

2016-05-10