Mutagenetix > Incidental Mutations

Incidental Mutation 'R2158:1810055G02Rik'

235019

Institutional Source

Beutler Lab

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

MMRRC Submission

040161-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3708333-3717881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3716608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 65 (V65A)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039048]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039048
AA Change: V65A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: V65A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
low complexity region	265	288	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC

Meta Mutation Damage Score

0.1073

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,385,668	S38T	possibly damaging	Het
Adam4	A	G	12: 81,421,763	L28S	probably damaging	Het
Agmo	T	A	12: 37,357,710	F198I	probably damaging	Het
Akap7	A	G	10: 25,171,164	V45A	probably damaging	Het
Amotl1	G	T	9: 14,575,169	N476K	probably benign	Het
Apcs	A	G	1: 172,894,533	L82P	probably damaging	Het
Armc3	C	A	2: 19,248,633	P195Q	probably damaging	Het
Astn2	A	T	4: 66,404,254	L36Q	unknown	Het
Atad2	A	T	15: 58,098,566	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,434,080	D285V	probably benign	Het
Caskin1	T	C	17: 24,505,154	V972A	probably benign	Het
Ccdc141	T	A	2: 77,030,671	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,390,572	D1019V	probably damaging	Het
Eml5	T	C	12: 98,843,946		probably benign	Het
Evi5l	T	C	8: 4,193,195	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,091,450		probably benign	Het
Fn3k	A	T	11: 121,448,886	N158I	probably damaging	Het
Galnt17	C	T	5: 130,906,702	R381Q	probably damaging	Het
Golga3	A	T	5: 110,187,361	K180N	probably damaging	Het
Hipk1	A	G	3: 103,760,538	L571P	probably damaging	Het
Hormad2	T	A	11: 4,424,808	K69*	probably null	Het
Hspg2	A	T	4: 137,517,604	D880V	probably damaging	Het
Ido2	T	A	8: 24,540,636	D226V	probably damaging	Het
Irs3	A	G	5: 137,644,699	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,276,859	T38A	probably damaging	Het
Kif11	A	G	19: 37,410,614	I749V	probably benign	Het
Lrp1b	T	G	2: 40,879,555	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,669,618	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,146,372	T106M	probably damaging	Het
Mdga2	C	T	12: 66,689,381	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563	T1479I	probably benign	Het
Myom1	T	C	17: 71,064,597	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047		probably null	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Olfr328	T	A	11: 58,551,942	Q99L	probably damaging	Het
Olfr620	G	C	7: 103,612,236	T39R	possibly damaging	Het
Olfr645	T	G	7: 104,084,826	T85P	probably benign	Het
Olfr69	G	T	7: 103,767,961	C145*	probably null	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Olfr930	T	C	9: 38,930,579	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,757,621	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,418,248	I269F	probably benign	Het
Plch1	A	G	3: 63,721,234	V536A	probably benign	Het
Popdc2	T	A	16: 38,362,826	L57Q	probably damaging	Het
Pramef17	T	C	4: 143,994,315	R19G	possibly damaging	Het
Riox1	A	G	12: 83,950,935	K82E	probably benign	Het
Rnasel	G	A	1: 153,754,901	V388M	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Snx25	A	G	8: 46,041,407	S814P	probably damaging	Het
Spta1	A	T	1: 174,229,258	H1859L	probably benign	Het
Strc	T	C	2: 121,365,862	I1562V	probably benign	Het
Taar5	T	A	10: 23,971,088	I128N	probably damaging	Het
Ttc28	C	T	5: 111,177,617		probably benign	Het
Vcan	A	T	13: 89,703,529	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,900,755	Q335*	probably null	Het
Zic1	T	C	9: 91,364,893	D42G	possibly damaging	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3717040	missense	probably benign	0.02
IGL02883:1810055G02Rik	APN	19	3716972	missense	possibly damaging	0.83
R0909:1810055G02Rik	UTSW	19	3715788	missense	probably benign	0.00
R1482:1810055G02Rik	UTSW	19	3717192	missense	probably benign	0.01
R4833:1810055G02Rik	UTSW	19	3716872	missense	possibly damaging	0.87
R5012:1810055G02Rik	UTSW	19	3717217	missense	possibly damaging	0.92
R5557:1810055G02Rik	UTSW	19	3717501	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3717241	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3715728	start codon destroyed	probably null	0.04
R8164:1810055G02Rik	UTSW	19	3717454	missense	probably benign
R8265:1810055G02Rik	UTSW	19	3716568	missense	probably benign	0.00
R8781:1810055G02Rik	UTSW	19	3717538	missense	possibly damaging	0.90
R8906:1810055G02Rik	UTSW	19	3716686	missense	possibly damaging	0.82
R9224:1810055G02Rik	UTSW	19	3717100	missense	possibly damaging	0.66
X0026:1810055G02Rik	UTSW	19	3716826	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTCCTGCATGTGGTTGAAAGTG -3'
(R):5'- CTTGGCACTTCTGCATGTGG -3'

Sequencing Primer
(F):5'- CTGCATGTGGTTGAAAGTGTTCTATC -3'
(R):5'- GGAGCCCAGCAATGGTG -3'

Posted On

2014-10-01