Mutagenetix > Incidental Mutations

Incidental Mutation 'R0206:A530064D06Rik'

26242

Institutional Source

Beutler Lab

Gene Symbol

A530064D06Rik

Ensembl Gene

ENSMUSG00000043939

Gene Name

RIKEN cDNA A530064D06 gene

Synonyms

MMRRC Submission

038459-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0206 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

48151896-48167270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48163318 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 165 (T165I)

Ref Sequence

ENSEMBL: ENSMUSP00000055935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027764] [ENSMUST00000053612]

Predicted Effect

probably benign
Transcript: ENSMUST00000027764

SMART Domains

Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	1.56e-5	SMART
low complexity region	144	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053612
AA Change: T165I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: T165I

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	1.56e-5	SMART
low complexity region	147	166	N/A	INTRINSIC
transmembrane domain	191	213	N/A	INTRINSIC

Meta Mutation Damage Score

0.1584

Coding Region Coverage

1x: 95.8%
3x: 87.0%
10x: 38.5%
20x: 5.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,282,662	C5R	probably damaging	Het
Adam26a	A	C	8: 43,570,418	F12V	possibly damaging	Het
Aldh1l1	T	C	6: 90,569,866	F384L	possibly damaging	Het
Cit	A	T	5: 115,994,030	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,095,557	S1008P	probably damaging	Het
Dnah11	A	C	12: 118,043,774	N2156K	probably damaging	Het
Gm20441	A	G	10: 75,772,885	M1T	probably null	Het
Inpp5k	T	C	11: 75,631,143	I15T	probably benign	Het
Loxhd1	T	A	18: 77,404,866	F1334L	possibly damaging	Het
Me3	A	T	7: 89,849,660	T483S	probably benign	Het
Med1	A	G	11: 98,155,689		probably benign	Het
Mxra8	T	A	4: 155,842,596	I329N	probably damaging	Het
Mybphl	T	C	3: 108,375,415	V207A	probably damaging	Het
Myom1	T	C	17: 71,037,297	S266P	probably damaging	Het
Olfr1032	T	C	2: 86,008,292	I172T	probably damaging	Het
Olfr308	T	C	7: 86,321,646	Y102C	probably benign	Het
Olfr412	A	T	11: 74,365,142	I158F	probably benign	Het
Olfr690	A	T	7: 105,329,883	M103K	possibly damaging	Het
Prex2	T	A	1: 11,285,144	D1556E	probably damaging	Het
Slc35d1	T	C	4: 103,208,154	T177A	probably damaging	Het
Vmn2r6	T	C	3: 64,539,912	T578A	probably benign	Het
Zkscan1	T	A	5: 138,101,186	C391S	probably damaging	Het

Other mutations in A530064D06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:A530064D06Rik	APN	17	48152940	missense	probably damaging	0.99
IGL01761:A530064D06Rik	APN	17	48152959	missense	possibly damaging	0.91
IGL02001:A530064D06Rik	APN	17	48166674	missense	possibly damaging	0.74
IGL02995:A530064D06Rik	APN	17	48163288	missense	probably benign	0.23
IGL03109:A530064D06Rik	APN	17	48166460	missense	probably benign	0.13
FR4340:A530064D06Rik	UTSW	17	48163381	small deletion	probably benign
FR4589:A530064D06Rik	UTSW	17	48163381	small deletion	probably benign
IGL02984:A530064D06Rik	UTSW	17	48163280	missense	probably benign	0.06
R0206:A530064D06Rik	UTSW	17	48163318	missense	probably benign	0.00
R0660:A530064D06Rik	UTSW	17	48166591	missense	probably benign	0.18
R0664:A530064D06Rik	UTSW	17	48166591	missense	probably benign	0.18
R0671:A530064D06Rik	UTSW	17	48166656	missense	probably benign	0.05
R1587:A530064D06Rik	UTSW	17	48166417	missense	probably benign	0.20
R4087:A530064D06Rik	UTSW	17	48166510	missense	probably damaging	0.96
R4089:A530064D06Rik	UTSW	17	48166510	missense	probably damaging	0.96
R4963:A530064D06Rik	UTSW	17	48163414	missense	probably benign	0.34
R5060:A530064D06Rik	UTSW	17	48166939	missense	probably damaging	1.00
R5083:A530064D06Rik	UTSW	17	48166390	missense	possibly damaging	0.86
R5219:A530064D06Rik	UTSW	17	48163350	missense	possibly damaging	0.70
R6175:A530064D06Rik	UTSW	17	48152848	missense	possibly damaging	0.91
R6189:A530064D06Rik	UTSW	17	48167054	start gained	probably benign
R6420:A530064D06Rik	UTSW	17	48166398	missense	probably damaging	1.00
R6439:A530064D06Rik	UTSW	17	48166485	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-04-16