Mutagenetix > Incidental Mutation

Incidental Mutation 'R2094:A130010J15Rik'

231958

Institutional Source

Beutler Lab

Gene Symbol

A130010J15Rik

Ensembl Gene

ENSMUSG00000079144

Gene Name

RIKEN cDNA A130010J15 gene

Synonyms

MMRRC Submission

040098-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

192855777-192860145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192857154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 169 (I169V)

Ref Sequence

ENSEMBL: ENSMUSP00000136653 (fasta)

Gene Model

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

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: I169V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: I169V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160077

SMART Domains

Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144

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: I169V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: I169V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178744
AA Change: I169V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: I169V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161235
AA Change: I169V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: I169V

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

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: 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: ENSMUST00000192189

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: ENSMUST00000191613

SMART Domains

Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

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

Meta Mutation Damage Score

0.0579

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc5	A	G	17: 56,604,856 (GRCm39)	S144P	probably benign	Het
Astn1	A	G	1: 158,495,179 (GRCm39)	M92V	probably benign	Het
Atg5	A	G	10: 44,195,544 (GRCm39)	I189M	probably damaging	Het
Atmin	A	G	8: 117,684,277 (GRCm39)	T646A	probably damaging	Het
Atp1a2	G	A	1: 172,115,000 (GRCm39)	R262W	probably damaging	Het
Atp6v1g2	A	G	17: 35,455,785 (GRCm39)	K16E	probably damaging	Het
Bex6	G	A	16: 32,005,278 (GRCm39)	E29K	possibly damaging	Het
Casd1	A	G	6: 4,608,705 (GRCm39)	Y101C	probably damaging	Het
Ccdc168	A	C	1: 44,098,890 (GRCm39)	I736S	probably benign	Het
Cdx1	T	C	18: 61,168,984 (GRCm39)	D70G	possibly damaging	Het
Cebpz	T	C	17: 79,242,983 (GRCm39)	T224A	probably benign	Het
Cep170b	T	C	12: 112,702,164 (GRCm39)	V319A	possibly damaging	Het
Chrna2	C	T	14: 66,386,912 (GRCm39)	R353W	possibly damaging	Het
Chst5	A	T	8: 112,617,176 (GRCm39)	V148E	probably benign	Het
Clhc1	T	A	11: 29,507,771 (GRCm39)	W162R	probably benign	Het
Csmd1	T	A	8: 16,129,992 (GRCm39)	Q1710L	probably damaging	Het
Ddb1	A	C	19: 10,590,300 (GRCm39)	M276L	probably benign	Het
Dot1l	C	T	10: 80,621,712 (GRCm39)	R455C	probably damaging	Het
Dync2h1	A	G	9: 7,148,735 (GRCm39)	V903A	probably benign	Het
Eno1b	T	C	18: 48,180,542 (GRCm39)	V240A	possibly damaging	Het
Erich1	T	G	8: 14,140,527 (GRCm39)		probably benign	Het
Ermp1	A	C	19: 29,617,328 (GRCm39)	S227A	probably benign	Het
Etv1	C	A	12: 38,885,115 (GRCm39)	P143Q	probably null	Het
Gimap8	A	T	6: 48,627,502 (GRCm39)	I159F	probably benign	Het
Gpr4	G	A	7: 18,956,503 (GRCm39)	V142M	possibly damaging	Het
Gucy1a1	C	T	3: 82,020,639 (GRCm39)	C86Y	probably benign	Het
Ifngr2	T	G	16: 91,358,667 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,710,488 (GRCm39)	N398I	probably damaging	Het
Iws1	A	G	18: 32,217,719 (GRCm39)	E441G	probably damaging	Het
Larp7-ps	A	G	4: 92,079,893 (GRCm39)	S32P	probably damaging	Het
Megf10	A	T	18: 57,414,785 (GRCm39)	K732*	probably null	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Mrgprb8	T	C	7: 48,038,953 (GRCm39)	V208A	probably benign	Het
Msc	G	C	1: 14,825,908 (GRCm39)	P22R	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Or4k15b	A	T	14: 50,272,171 (GRCm39)	S230T	probably damaging	Het
Oxsr1	A	C	9: 119,123,560 (GRCm39)	H71Q	probably benign	Het
Pkp2	T	A	16: 16,064,831 (GRCm39)	W452R	probably damaging	Het
Prrc2b	C	T	2: 32,072,582 (GRCm39)	T20I	probably damaging	Het
Rasgrp3	T	C	17: 75,810,136 (GRCm39)	S279P	probably damaging	Het
Rtl1	T	A	12: 109,557,831 (GRCm39)	D1336V	unknown	Het
Serpina3m	G	T	12: 104,355,529 (GRCm39)	K65N	probably benign	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Slc10a1	A	G	12: 81,002,822 (GRCm39)	V272A	possibly damaging	Het
Slc25a29	A	T	12: 108,793,358 (GRCm39)	N73K	probably damaging	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Srrm2	T	C	17: 24,031,403 (GRCm39)		probably benign	Het
Stk11ip	A	G	1: 75,502,165 (GRCm39)		probably benign	Het
Tcerg1	A	G	18: 42,697,210 (GRCm39)	K767R	possibly damaging	Het
Tmem82	T	C	4: 141,343,598 (GRCm39)	K224R	probably benign	Het
Tmprss11g	A	G	5: 86,647,415 (GRCm39)	L41S	probably damaging	Het
Trim42	T	C	9: 97,248,150 (GRCm39)	N182S	probably benign	Het
Ttn	T	C	2: 76,660,432 (GRCm39)	T7430A	probably benign	Het
Wwp1	T	C	4: 19,650,390 (GRCm39)	T259A	probably benign	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
IGL00594:A130010J15Rik	APN	1	192,857,109 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TGCCTGTCAGCATTTGGAAC -3'
(R):5'- TTTTCAGGGCTGGGAACAAAC -3'

Sequencing Primer
(F):5'- ACAGACACTGCTTGGTACTG -3'
(R):5'- GGCTGGGAACAAACTCTCTG -3'

Posted On

2014-09-18