Mutagenetix > Incidental Mutations

Incidental Mutation 'R6945:Gm11563'

540851

Institutional Source

Beutler Lab

Gene Symbol

Gm11563

Ensembl Gene

ENSMUSG00000069718

Gene Name

predicted gene 11563

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99657949-99658960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 99658472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 152 (C152S)

Ref Sequence

ENSEMBL: ENSMUSP00000090369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092695]

AlphaFold

B1AQ90

Predicted Effect

unknown
Transcript: ENSMUST00000092695
AA Change: C152S

SMART Domains

Protein: ENSMUSP00000090369
Gene: ENSMUSG00000069718
AA Change: C152S

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	58	3.9e-10	PFAM
Pfam:Keratin_B2_2	44	88	7.8e-16	PFAM
Pfam:Keratin_B2_2	59	102	3.7e-14	PFAM
internal_repeat_1	142	157	9.92e-7	PROSPERO
internal_repeat_1	152	167	9.92e-7	PROSPERO

Meta Mutation Damage Score

0.1610

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090	S667P	possibly damaging	Het
Glmp	T	A	3: 88,325,832	S92R	probably benign	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961	V378A	probably damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het

Other mutations in Gm11563

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01911:Gm11563	APN	11	99658701	nonsense	probably null
IGL02125:Gm11563	APN	11	99658805	missense	unknown
R0551:Gm11563	UTSW	11	99658713	missense	unknown
R0584:Gm11563	UTSW	11	99658625	missense	unknown
R0620:Gm11563	UTSW	11	99658437	missense	unknown
R1246:Gm11563	UTSW	11	99658848	missense	unknown
R4575:Gm11563	UTSW	11	99658449	missense	unknown
R4745:Gm11563	UTSW	11	99658420	makesense	probably null
R5279:Gm11563	UTSW	11	99658713	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACCAGAGGCAGTTTTCCTGAG -3'
(R):5'- TCTGTGTGTTGCCAGCCTAC -3'

Sequencing Primer
(F):5'- CTGAGTCTGGGGCATGAACAC -3'
(R):5'- CTAGCTGCTGCCAGTCTGTG -3'

Posted On

2018-11-28