Mutagenetix > Incidental Mutations

Incidental Mutation 'R6160:5530400C23Rik'

489801

Institutional Source

Beutler Lab

Gene Symbol

5530400C23Rik

Ensembl Gene

ENSMUSG00000055594

Gene Name

RIKEN cDNA 5530400C23 gene

Synonyms

MMRRC Submission

044307-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133292216-133295792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133294326 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 111 (E111G)

Ref Sequence

ENSEMBL: ENSMUSP00000035635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048459]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048459
AA Change: E111G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035635
Gene: ENSMUSG00000055594
AA Change: E111G

Domain	Start	End	E-Value	Type
Pfam:Pro-rich	1	163	5.2e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	A	6: 149,331,507		probably null	Het
4930433I11Rik	T	A	7: 40,993,526	S297R	possibly damaging	Het
8030423J24Rik	T	A	13: 70,883,910	S34T	unknown	Het
Ace3	T	A	11: 105,994,732	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,310,687	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,162,549		probably benign	Het
Atm	A	C	9: 53,490,959	H1404Q	probably benign	Het
AW209491	A	G	13: 14,636,721	E53G	probably damaging	Het
Cdt1	C	T	8: 122,571,368	T366I	probably benign	Het
Cerk	A	T	15: 86,142,773	C179S	probably benign	Het
Cldn10	T	C	14: 118,861,843	V123A	possibly damaging	Het
Clip1	T	C	5: 123,613,541	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,188,821	L171P	probably damaging	Het
Dip2c	G	A	13: 9,533,254	V91I	probably benign	Het
Dlec1	A	G	9: 119,143,319	I1431V	probably benign	Het
Egln1	T	C	8: 124,948,492	D188G	probably damaging	Het
Enpp5	T	A	17: 44,081,368	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,836,298	I221L	probably benign	Het
Fsip2	G	A	2: 82,987,945	W4674*	probably null	Het
Gm12185	G	A	11: 48,908,428	Q413*	probably null	Het
Gm5096	G	A	18: 87,757,121	C256Y	probably damaging	Het
Gm7298	A	T	6: 121,764,927	H436L	probably benign	Het
Gucy2c	G	A	6: 136,740,686	Q430*	probably null	Het
Hgd	A	G	16: 37,613,298	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,705,999	E151G	probably damaging	Het
Il15ra	A	G	2: 11,720,016	D99G	probably damaging	Het
Ints4	T	A	7: 97,509,583		probably null	Het
Itgb1	T	A	8: 128,720,283	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,518,755	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,716,559	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,892,383	I178N	probably damaging	Het
Kidins220	A	G	12: 24,997,311	D252G	probably damaging	Het
Krt23	A	G	11: 99,485,718	I204T	probably damaging	Het
Lipo4	A	G	19: 33,503,293	L225P	probably damaging	Het
Lrp3	T	C	7: 35,204,123	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857	D282G	probably damaging	Het
Myo1c	A	T	11: 75,650,742	H18L	probably benign	Het
Myo1f	C	A	17: 33,604,344	P981Q	probably benign	Het
Nle1	A	T	11: 82,908,157	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,321,306	M406R	probably damaging	Het
Obscn	A	T	11: 59,051,785	V4857E	probably damaging	Het
Palb2	A	T	7: 122,128,420		probably null	Het
Phospho1	A	T	11: 95,830,624	E22V	probably damaging	Het
Pom121l2	C	T	13: 21,983,668	S703L	possibly damaging	Het
Prex2	T	C	1: 10,993,851	L20P	probably damaging	Het
Psmb7	T	C	2: 38,643,381	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,484,507	I532T	probably damaging	Het
Rcn1	T	C	2: 105,392,017	D208G	probably damaging	Het
Recql5	A	G	11: 115,932,787		probably null	Het
Rfc4	A	T	16: 23,114,683	I242N	probably damaging	Het
Rims1	T	C	1: 22,432,984	Y650C	probably damaging	Het
Shc2	C	T	10: 79,627,019		probably null	Het
Slc14a2	A	T	18: 78,158,975		probably null	Het
Slc6a6	A	T	6: 91,740,014		probably null	Het
Synj2	C	A	17: 6,008,061	H275N	possibly damaging	Het
T	A	T	17: 8,441,786	T410S	probably benign	Het
Tarsl2	A	G	7: 65,682,779	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,372,403	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,606,289	L425*	probably null	Het
Trav14-3	A	G	14: 53,763,521	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,803,270	D133A	probably damaging	Het
Vmn1r119	T	G	7: 21,011,815	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,509,418	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,145,833	Y454F	probably benign	Het
Zmym2	T	C	14: 56,950,309	L1144P	probably damaging	Het

Other mutations in 5530400C23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:5530400C23Rik	APN	6	133294497	missense	probably benign
IGL01018:5530400C23Rik	APN	6	133294498	missense	probably benign
IGL02383:5530400C23Rik	APN	6	133292242	utr 5 prime	probably benign
R0066:5530400C23Rik	UTSW	6	133292324	splice site	probably benign
R0105:5530400C23Rik	UTSW	6	133294314	missense	probably benign	0.32
R0468:5530400C23Rik	UTSW	6	133294458	missense	probably benign	0.25
R0600:5530400C23Rik	UTSW	6	133293211	splice site	probably benign
R1523:5530400C23Rik	UTSW	6	133294293	missense	possibly damaging	0.85
R3418:5530400C23Rik	UTSW	6	133294119	missense	probably benign	0.32
R3419:5530400C23Rik	UTSW	6	133294119	missense	probably benign	0.32
R5362:5530400C23Rik	UTSW	6	133294482	missense	probably benign
R7733:5530400C23Rik	UTSW	6	133294277	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- CAGGACTCAGAGTTAGGTCCTTC -3'
(R):5'- TACCTAATTTCTCCGGGGCC -3'

Sequencing Primer
(F):5'- GCTGCTGCAAATATAGGGAATATCC -3'
(R):5'- GGGGCCCTCTCCAAAAAG -3'

Posted On

2017-10-10