Mutagenetix > Incidental Mutation

Incidental Mutation 'R6551:A130010J15Rik'

521567

Institutional Source

Beutler Lab

Gene Symbol

A130010J15Rik

Ensembl Gene

ENSMUSG00000079144

Gene Name

RIKEN cDNA A130010J15 gene

Synonyms

MMRRC Submission

044676-MU

Accession Numbers

Essential gene?

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

Stock #

R6551 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192855777-192860145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 192856831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 61 (Q61L)

Ref Sequence

ENSEMBL: ENSMUSP00000141799 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000110831
AA Change: Q61L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: Q61L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160077
AA Change: Q61L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: Q61L

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 damaging
Transcript: ENSMUST00000160822
AA Change: Q61L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: Q61L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161235
AA Change: Q61L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: Q61L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178744
AA Change: Q61L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: Q61L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000191613
AA Change: Q61L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144
AA Change: Q61L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193307
AA Change: Q61L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144
AA Change: Q61L

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: ENSMUST00000192189

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,393,128 (GRCm39)	S285P	probably benign	Het
Ager	A	G	17: 34,818,442 (GRCm39)		probably null	Het
Alkbh7	T	A	17: 57,305,945 (GRCm39)	Y115*	probably null	Het
Brwd1	T	C	16: 95,795,162 (GRCm39)	D2184G	possibly damaging	Het
Chp1	T	A	2: 119,402,294 (GRCm39)	H89Q	possibly damaging	Het
Clmp	T	C	9: 40,682,573 (GRCm39)	V119A	probably benign	Het
Cryge	A	T	1: 65,087,796 (GRCm39)	M171K	probably benign	Het
Cttnbp2nl	A	T	3: 104,912,433 (GRCm39)	S484T	possibly damaging	Het
Dsg3	C	A	18: 20,672,968 (GRCm39)	P880T	unknown	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Espn	T	C	4: 152,213,223 (GRCm39)			Het
Fbxo31	A	C	8: 122,291,443 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,342 (GRCm39)	V1068A	probably damaging	Het
Jak1	C	A	4: 101,051,040 (GRCm39)		probably benign	Het
Klra10	A	T	6: 130,252,718 (GRCm39)	D185E	probably benign	Het
Lhx1	A	C	11: 84,412,739 (GRCm39)	D60E	probably benign	Het
Lyar	C	A	5: 38,390,616 (GRCm39)	A326D	probably damaging	Het
Muc16	A	C	9: 18,473,858 (GRCm39)	S1280A	possibly damaging	Het
Nol9	G	A	4: 152,136,325 (GRCm39)	V466I	possibly damaging	Het
Or10d1	C	A	9: 39,483,856 (GRCm39)	R233L	probably benign	Het
Or12e8	T	C	2: 87,677,005 (GRCm39)	V130A	possibly damaging	Het
Or1e17	T	C	11: 73,831,129 (GRCm39)	I19T	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2w3b	A	T	11: 58,623,583 (GRCm39)	M136K	probably damaging	Het
Or2y10	G	T	11: 49,454,816 (GRCm39)	V23L	probably benign	Het
Pik3c2a	A	T	7: 116,016,731 (GRCm39)	I342N	probably damaging	Het
Pnldc1	A	G	17: 13,124,456 (GRCm39)	M133T	probably damaging	Het
Rab11fip1	G	A	8: 27,646,512 (GRCm39)	S188L	probably damaging	Het
Rapgef2	A	T	3: 79,122,342 (GRCm39)		probably null	Het
Rnf103	G	A	6: 71,487,349 (GRCm39)	C660Y	probably damaging	Het
Rph3al	G	A	11: 75,797,372 (GRCm39)	S108F	possibly damaging	Het
Srsf7	A	C	17: 80,511,648 (GRCm39)		probably benign	Het
Ssrp1	A	G	2: 84,871,450 (GRCm39)		probably null	Het
Tamm41	T	C	6: 114,989,142 (GRCm39)	D284G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem39b	A	G	4: 129,585,896 (GRCm39)	V25A	probably benign	Het
Tmem88b	G	T	4: 155,870,149 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,941,550 (GRCm39)	W266R	probably damaging	Het
Usp8	T	A	2: 126,575,102 (GRCm39)		probably benign	Het
Zbtb48	T	G	4: 152,106,678 (GRCm39)	Q142P	probably benign	Het
Zdhhc18	T	C	4: 133,340,960 (GRCm39)	T267A	probably benign	Het
Zfp335	G	A	2: 164,751,285 (GRCm39)	P94S	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
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
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'- AGGCCATATGTCATGTAACTTCC -3'
(R):5'- ATTTCAAGTCCGGGAGCTGG -3'

Sequencing Primer
(F):5'- GCCATATGTCATGTAACTTCCAGATC -3'
(R):5'- CACCGACCGGACAGAAGG -3'

Posted On

2018-06-06