Mutagenetix > Incidental Mutation

Incidental Mutation 'R4545:Gm11808'

333706

Institutional Source

Beutler Lab

Gene Symbol

Gm11808

Ensembl Gene

ENSMUSG00000068240

Gene Name

predicted gene 11808

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R4545 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

3973092-3973595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3973244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 106 (R106H)

Ref Sequence

ENSEMBL: ENSMUSP00000086852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089430]

AlphaFold

P62984

Predicted Effect

probably benign
Transcript: ENSMUST00000089430
AA Change: R106H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086852
Gene: ENSMUSG00000068240
AA Change: R106H

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Ccr1	G	A	9: 123,964,400	A31V	probably benign	Het
Chrna6	A	T	8: 27,406,683	S389T	probably benign	Het
Clic6	C	T	16: 92,492,157		probably benign	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Coq8b	G	T	7: 27,233,505	C13F	probably benign	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979	V118F	probably damaging	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnajc11	T	A	4: 151,979,941	D516E	probably damaging	Het
Dock8	G	A	19: 25,188,358	V1869M	probably damaging	Het
Dst	A	G	1: 34,188,738	D1982G	probably damaging	Het
Gnptab	G	A	10: 88,414,595	D190N	probably benign	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Hecw2	T	C	1: 53,813,222	*1579W	probably null	Het
Ica1l	A	G	1: 60,013,818		probably null	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,762,567		probably null	Het
Klra13-ps	T	C	6: 130,291,269		noncoding transcript	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Mvb12b	G	C	2: 33,827,700	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Olfr1447	T	A	19: 12,901,268	K171*	probably null	Het
Olfr235	T	C	19: 12,268,824	V198A	possibly damaging	Het
Olfr390	T	C	11: 73,787,166	V76A	probably damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,638,108	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Vnn3	G	A	10: 23,856,326	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,544,936		noncoding transcript	Het
Zfp414	T	C	17: 33,631,648		probably benign	Het
Zfp810	G	A	9: 22,278,745	T289I	probably damaging	Het
Zfp819	G	T	7: 43,617,785	R488L	probably damaging	Het
Zfp942	C	T	17: 21,928,304	G448D	probably benign	Het
Zscan12	A	G	13: 21,366,705	K165E	possibly damaging	Het

Other mutations in Gm11808

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4544:Gm11808	UTSW	4	3973244	missense	probably benign
R6722:Gm11808	UTSW	4	3973386	missense	probably benign	0.19
R8198:Gm11808	UTSW	4	3973346	missense	probably benign	0.01
Z1177:Gm11808	UTSW	4	3973193	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACTGCCATTCACCAGGC -3'
(R):5'- GATATTCGCGGGCAAACAGC -3'

Sequencing Primer
(F):5'- AAGAAAATCCAAGATGTAGCCTTG -3'
(R):5'- ACAGCTGGAGGATGGCC -3'

Posted On

2015-08-18