Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:2310003L06Rik'

229412

Institutional Source

Beutler Lab

Gene Symbol

2310003L06Rik

Ensembl Gene

ENSMUSG00000007457

Gene Name

RIKEN cDNA 2310003L06 gene

Synonyms

MMRRC Submission

040085-MU

Accession Numbers

Genbank: AK009122; MGI: 1921498

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87969459-87972870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87971933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 183 (D183V)

Ref Sequence

ENSEMBL: ENSMUSP00000007601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]

AlphaFold

Q9CV82

Predicted Effect

probably damaging
Transcript: ENSMUST00000007601
AA Change: D183V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: D183V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190123

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	T	A	2: 91,885,719 (GRCm38)	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604 (GRCm38)	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094 (GRCm38)	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280 (GRCm38)	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327 (GRCm38)	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148 (GRCm38)	A123V	probably benign	Het
Car6	T	C	4: 150,198,141 (GRCm38)	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096 (GRCm38)	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537 (GRCm38)	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816 (GRCm38)	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206 (GRCm38)	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962 (GRCm38)	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100 (GRCm38)	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306 (GRCm38)	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468 (GRCm38)	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745 (GRCm38)	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419 (GRCm38)		probably benign	Het
Gm1527	T	A	3: 28,926,661 (GRCm38)	C637S	probably benign	Het
Hist1h1a	A	G	13: 23,763,949 (GRCm38)	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291 (GRCm38)	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552 (GRCm38)	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717 (GRCm38)	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960 (GRCm38)	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527 (GRCm38)	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959 (GRCm38)	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824 (GRCm38)	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754 (GRCm38)	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941 (GRCm38)		probably null	Het
Naip5	A	G	13: 100,221,533 (GRCm38)	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219 (GRCm38)		probably benign	Het
Nemf	A	G	12: 69,353,786 (GRCm38)		probably benign	Het
Nfil3	A	T	13: 52,968,033 (GRCm38)	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424 (GRCm38)	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393 (GRCm38)	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436 (GRCm38)	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739 (GRCm38)	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568 (GRCm38)	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243 (GRCm38)	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082 (GRCm38)	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123 (GRCm38)	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013 (GRCm38)		probably benign	Het
Ppm1f	T	A	16: 16,923,880 (GRCm38)	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847 (GRCm38)	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505 (GRCm38)	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376 (GRCm38)	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445 (GRCm38)	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774 (GRCm38)	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082 (GRCm38)	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325 (GRCm38)	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487 (GRCm38)	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667 (GRCm38)	D480A	probably damaging	Het

Other mutations in 2310003L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:2310003L06Rik	APN	5	87,972,790 (GRCm38)	missense	probably benign	0.37
IGL01938:2310003L06Rik	APN	5	87,971,708 (GRCm38)	missense	probably damaging	0.99
IGL03032:2310003L06Rik	APN	5	87,971,915 (GRCm38)	missense	possibly damaging	0.94
D3080:2310003L06Rik	UTSW	5	87,971,987 (GRCm38)	missense	possibly damaging	0.53
G1Funyon:2310003L06Rik	UTSW	5	87,972,505 (GRCm38)	missense	probably benign	0.01
IGL02984:2310003L06Rik	UTSW	5	87,972,803 (GRCm38)	missense	probably damaging	0.97
PIT4243001:2310003L06Rik	UTSW	5	87,972,140 (GRCm38)	missense	possibly damaging	0.95
R0359:2310003L06Rik	UTSW	5	87,964,596 (GRCm38)	unclassified	probably benign
R0676:2310003L06Rik	UTSW	5	87,964,657 (GRCm38)	unclassified	probably benign
R1524:2310003L06Rik	UTSW	5	87,971,689 (GRCm38)	missense	probably benign	0.37
R1536:2310003L06Rik	UTSW	5	87,970,665 (GRCm38)	missense	probably benign
R1998:2310003L06Rik	UTSW	5	87,970,694 (GRCm38)	missense	probably damaging	0.98
R2132:2310003L06Rik	UTSW	5	87,964,476 (GRCm38)	unclassified	probably benign
R2177:2310003L06Rik	UTSW	5	87,972,453 (GRCm38)	missense	probably damaging	0.98
R2399:2310003L06Rik	UTSW	5	87,972,479 (GRCm38)	missense	probably damaging	0.98
R3748:2310003L06Rik	UTSW	5	87,964,563 (GRCm38)	unclassified	probably benign
R4010:2310003L06Rik	UTSW	5	87,972,277 (GRCm38)	missense	probably damaging	0.96
R4096:2310003L06Rik	UTSW	5	87,972,149 (GRCm38)	missense	possibly damaging	0.57
R4656:2310003L06Rik	UTSW	5	87,964,675 (GRCm38)	unclassified	probably benign
R4823:2310003L06Rik	UTSW	5	87,972,598 (GRCm38)	missense	probably benign	0.00
R5753:2310003L06Rik	UTSW	5	87,972,515 (GRCm38)	missense	probably damaging	0.99
R6087:2310003L06Rik	UTSW	5	87,971,762 (GRCm38)	missense	possibly damaging	0.94
R6931:2310003L06Rik	UTSW	5	87,970,702 (GRCm38)	missense	probably damaging	0.97
R7032:2310003L06Rik	UTSW	5	87,972,579 (GRCm38)	missense	possibly damaging	0.79
R7703:2310003L06Rik	UTSW	5	87,972,812 (GRCm38)	missense	possibly damaging	0.90
R7912:2310003L06Rik	UTSW	5	87,972,592 (GRCm38)	missense	probably benign	0.35
R8185:2310003L06Rik	UTSW	5	87,972,152 (GRCm38)	missense	possibly damaging	0.73
R8301:2310003L06Rik	UTSW	5	87,972,505 (GRCm38)	missense	probably benign	0.01
R9010:2310003L06Rik	UTSW	5	87,971,645 (GRCm38)	missense	possibly damaging	0.68
R9179:2310003L06Rik	UTSW	5	87,972,031 (GRCm38)	missense	probably benign	0.00
R9225:2310003L06Rik	UTSW	5	87,972,574 (GRCm38)	missense	probably benign
R9226:2310003L06Rik	UTSW	5	87,970,659 (GRCm38)	start codon destroyed	probably benign	0.14
R9309:2310003L06Rik	UTSW	5	87,972,473 (GRCm38)	missense	probably damaging	0.99
R9373:2310003L06Rik	UTSW	5	87,972,809 (GRCm38)	missense	probably benign	0.37
R9431:2310003L06Rik	UTSW	5	87,972,466 (GRCm38)	missense	possibly damaging	0.78
Z1088:2310003L06Rik	UTSW	5	87,972,306 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGCTTTGCTTATGCCAAAGG -3'
(R):5'- AGTAGTGGTACCAGTTCCAAGAAAAC -3'

Sequencing Primer
(F):5'- CTTTGCTTATGCCAAAGGGACAG -3'
(R):5'- GTACCAGTTCCAAGAAAACTCTGTTC -3'

Posted On

2014-09-17