Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00330:A130010J15Rik'

7291

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A130010J15Rik

Ensembl Gene

ENSMUSG00000079144

Gene Name

RIKEN cDNA A130010J15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL00330

Quality Score

Status

Chromosome

Chromosomal Location

192855777-192860145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 192857087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 146 (D146E)

Ref Sequence

ENSEMBL: ENSMUSP00000136653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000076521] [ENSMUST00000110831] [ENSMUST00000160077] [ENSMUST00000160822] [ENSMUST00000178744] [ENSMUST00000161235] [ENSMUST00000191613] [ENSMUST00000193307] [ENSMUST00000192020] [ENSMUST00000194278] [ENSMUST00000192189]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043550

SMART Domains

Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
coiled coil region	279	486	N/A	INTRINSIC
transmembrane domain	487	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076521

SMART Domains

Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638

Domain	Start	End	E-Value	Type
IRF	3	116	1.98e-59	SMART
low complexity region	135	151	N/A	INTRINSIC
Blast:IRF	158	189	6e-8	BLAST
IRF-3	223	407	3.92e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110831
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: D146E

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160077
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: D146E

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	163	6.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160332

Predicted Effect

probably benign
Transcript: ENSMUST00000160822
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: D146E

Domain	Start	End	E-Value	Type
Pfam:DUF4504	15	263	2.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178744
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: D146E

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161235
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: D146E

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191613

SMART Domains

Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	70	7.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193307

SMART Domains

Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	84	3.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192020

SMART Domains

Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
coiled coil region	279	486	N/A	INTRINSIC
transmembrane domain	487	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194278

SMART Domains

Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192189

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpi	A	T	1: 87,027,442 (GRCm39)	L308Q	probably damaging	Het
Bhmt2	A	T	13: 93,803,279 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,539 (GRCm39)	E1071G	probably damaging	Het
Car3	A	T	3: 14,933,439 (GRCm39)	N128Y	probably benign	Het
Cdkl2	C	T	5: 92,165,236 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cul9	T	C	17: 46,821,767 (GRCm39)		probably benign	Het
Gpr149	T	G	3: 62,438,094 (GRCm39)	I688L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Kif19a	G	A	11: 114,670,411 (GRCm39)	G107D	probably damaging	Het
Loxhd1	A	C	18: 77,483,146 (GRCm39)	R1242S	probably damaging	Het
Ms4a6c	T	C	19: 11,455,676 (GRCm39)	Y162H	probably benign	Het
Msrb2	G	T	2: 19,376,510 (GRCm39)	R6L	unknown	Het
Myh2	A	G	11: 67,084,266 (GRCm39)	N1630D	probably benign	Het
Myrf	A	G	19: 10,201,877 (GRCm39)	V200A	probably benign	Het
Ncor2	A	G	5: 125,119,807 (GRCm39)		probably null	Het
Nrg1	T	A	8: 32,308,117 (GRCm39)	Q621L	probably damaging	Het
Or11h6	G	A	14: 50,880,625 (GRCm39)	A296T	probably benign	Het
Or5bw2	A	T	7: 6,573,667 (GRCm39)	I226F	possibly damaging	Het
Pfkp	A	G	13: 6,669,586 (GRCm39)	F211S	probably damaging	Het
Pramex1	T	C	X: 134,515,258 (GRCm39)	N273S	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Pwwp3b	A	G	X: 138,136,443 (GRCm39)	D327G	probably damaging	Het
Rnh1	G	A	7: 140,746,644 (GRCm39)	A49V	possibly damaging	Het
Serhl	C	T	15: 82,988,574 (GRCm39)	S167F	probably benign	Het
Skint1	T	C	4: 111,878,777 (GRCm39)		probably null	Het
Taar7b	A	C	10: 23,876,740 (GRCm39)	I302L	probably benign	Het
Tasor2	A	G	13: 3,624,832 (GRCm39)	F1706S	probably benign	Het
Zfp106	G	A	2: 120,369,978 (GRCm39)	P15S	probably benign	Het
Zfp385b	T	C	2: 77,307,122 (GRCm39)	Q167R	probably damaging	Het
Zfp800	T	A	6: 28,243,037 (GRCm39)	T643S	probably benign	Het

Other mutations in A130010J15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:A130010J15Rik	APN	1	192,857,109 (GRCm39)	missense	probably benign	0.00
R2094:A130010J15Rik	UTSW	1	192,857,154 (GRCm39)	missense	probably benign	0.08
R4754:A130010J15Rik	UTSW	1	192,856,837 (GRCm39)	missense	probably damaging	1.00
R4824:A130010J15Rik	UTSW	1	192,856,965 (GRCm39)	missense	probably benign	0.01
R6195:A130010J15Rik	UTSW	1	192,857,142 (GRCm39)	splice site	probably null
R6393:A130010J15Rik	UTSW	1	192,856,690 (GRCm39)	missense	possibly damaging	0.82
R6551:A130010J15Rik	UTSW	1	192,856,831 (GRCm39)	missense	probably damaging	0.96
R6809:A130010J15Rik	UTSW	1	192,857,089 (GRCm39)	missense	possibly damaging	0.62
R8867:A130010J15Rik	UTSW	1	192,857,406 (GRCm39)	missense	probably damaging	1.00
R9593:A130010J15Rik	UTSW	1	192,857,087 (GRCm39)	missense	probably benign	0.13
R9685:A130010J15Rik	UTSW	1	192,857,065 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20