Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00594:A130010J15Rik'

8503

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: 0.059) question?

Stock #

IGL00594

Quality Score

Status

Chromosome

Chromosomal Location

192855777-192860145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192857109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 154 (T154A)

Ref Sequence

ENSEMBL: ENSMUSP00000136653 (fasta)

Gene Model

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

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: T154A

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

SMART Domains

Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: T154A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160077
AA Change: T154A

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

SMART Domains

Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: T154A

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: T154A

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

SMART Domains

Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: T154A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161235
AA Change: T154A

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

SMART Domains

Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: T154A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178744
AA Change: T154A

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

SMART Domains

Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: T154A

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	G	11: 116,065,331 (GRCm39)		probably benign	Het
Adgrg2	G	A	X: 159,268,773 (GRCm39)	V677I	probably benign	Het
Aifm1	T	C	X: 47,570,976 (GRCm39)	T386A	probably benign	Het
Aspm	T	C	1: 139,415,160 (GRCm39)		probably benign	Het
Fgfr2	A	G	7: 129,830,453 (GRCm39)	V175A	probably damaging	Het
Gm382	T	C	X: 125,970,775 (GRCm39)	Y987H	probably benign	Het
Golga3	A	T	5: 110,352,841 (GRCm39)	M911L	probably benign	Het
Hmgxb3	A	G	18: 61,290,811 (GRCm39)	V354A	probably benign	Het
Ifne	T	C	4: 88,798,041 (GRCm39)	N126D	probably benign	Het
Igkv3-7	T	C	6: 70,584,807 (GRCm39)	V49A	possibly damaging	Het
Kbtbd8	A	T	6: 95,103,494 (GRCm39)	Y381F	probably damaging	Het
Klc1	C	T	12: 111,743,318 (GRCm39)	T215M	probably damaging	Het
Lrp2	A	T	2: 69,316,624 (GRCm39)	V2119E	probably benign	Het
Lrrc7	A	G	3: 157,892,647 (GRCm39)	V322A	probably benign	Het
Mageb5b	C	T	X: 90,679,091 (GRCm39)	Q348*	probably null	Het
Ms4a14	A	G	19: 11,278,983 (GRCm39)	S1192P	possibly damaging	Het
Ndufaf6	T	C	4: 11,062,127 (GRCm39)	Y168C	probably damaging	Het
Plcg2	C	T	8: 118,282,810 (GRCm39)	T97I	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,966 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,083,777 (GRCm39)	H515R	probably benign	Het
Rpn1	G	T	6: 88,072,611 (GRCm39)	R318L	probably damaging	Het
Shroom2	A	T	X: 151,396,512 (GRCm39)	F1359Y	probably damaging	Het
Tars3	T	A	7: 65,325,880 (GRCm39)		probably null	Het
Tbc1d12	A	G	19: 38,884,487 (GRCm39)	E346G	possibly damaging	Het
Tbccd1	A	G	16: 22,641,294 (GRCm39)	F361S	possibly damaging	Het
Tenm1	G	T	X: 41,803,913 (GRCm39)	P837T	probably benign	Het
Tmem144	A	G	3: 79,746,474 (GRCm39)	V27A	probably benign	Het
Zfp616	T	A	11: 73,973,789 (GRCm39)	N19K	possibly damaging	Het
Zkscan7	T	C	9: 122,724,659 (GRCm39)	Y543H	possibly damaging	Het

Other mutations in A130010J15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:A130010J15Rik	APN	1	192,857,087 (GRCm39)	missense	probably benign	0.13
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

2012-12-06