Mutagenetix > Incidental Mutation

Incidental Mutation 'R7458:2900026A02Rik'

578244

Institutional Source

Beutler Lab

Gene Symbol

2900026A02Rik

Ensembl Gene

ENSMUSG00000051339

Gene Name

RIKEN cDNA 2900026A02 gene

Synonyms

LOC231620, Gm449

MMRRC Submission

045532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113234189-113369102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113338510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 501 (V501M)

Ref Sequence

ENSEMBL: ENSMUSP00000147419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000211733]

AlphaFold

Q8BRV5

Predicted Effect

probably benign
Transcript: ENSMUST00000211733
AA Change: V501M

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,777 (GRCm39)	F880S	possibly damaging	Het
AI182371	T	A	2: 34,976,516 (GRCm39)	R206S	possibly damaging	Het
Akr1a1	A	T	4: 116,495,014 (GRCm39)	M286K	possibly damaging	Het
Aldh8a1	A	G	10: 21,271,492 (GRCm39)	E406G	possibly damaging	Het
Ambra1	T	A	2: 91,748,029 (GRCm39)	V1255D	probably benign	Het
Apol7e	C	T	15: 77,598,604 (GRCm39)	T23I	probably benign	Het
Armh4	T	C	14: 49,920,196 (GRCm39)	Y711C	probably damaging	Het
Boc	T	C	16: 44,307,119 (GRCm39)	E1034G		Het
Bricd5	T	C	17: 24,693,476 (GRCm39)	I39T	probably damaging	Het
Ccne1	T	C	7: 37,800,096 (GRCm39)	T163A	probably damaging	Het
Cct7	T	C	6: 85,436,978 (GRCm39)	V72A	probably benign	Het
Cdh3	A	G	8: 107,263,779 (GRCm39)	D199G	probably damaging	Het
Clip1	T	G	5: 123,778,609 (GRCm39)	E438A	probably damaging	Het
Col4a4	T	C	1: 82,476,669 (GRCm39)	I553M	unknown	Het
Csmd1	A	T	8: 16,003,738 (GRCm39)	N2605K	probably damaging	Het
Dnajc10	T	A	2: 80,155,094 (GRCm39)		probably null	Het
Fbn1	T	A	2: 125,161,036 (GRCm39)	D2168V	probably benign	Het
G2e3	T	A	12: 51,412,290 (GRCm39)	N443K	possibly damaging	Het
Gak	T	C	5: 108,730,940 (GRCm39)	D822G	probably benign	Het
Gm9493	A	G	19: 23,597,277 (GRCm39)	I58V	probably benign	Het
Gpr65	T	G	12: 98,242,324 (GRCm39)	S326A	probably damaging	Het
Irs2	T	C	8: 11,057,739 (GRCm39)	E231G	probably damaging	Het
Itga1	T	C	13: 115,122,802 (GRCm39)	D718G	probably benign	Het
Itih1	T	C	14: 30,665,223 (GRCm39)	M1V	probably null	Het
Lgr5	A	G	10: 115,293,660 (GRCm39)		probably null	Het
Lipn	A	G	19: 34,049,242 (GRCm39)	N136S	probably benign	Het
Lrrc37a	G	A	11: 103,388,258 (GRCm39)	T2389I	unknown	Het
Myo7b	G	A	18: 32,121,604 (GRCm39)	A767V	possibly damaging	Het
Necab1	A	T	4: 15,111,244 (GRCm39)	S61R	possibly damaging	Het
Or5m8	A	G	2: 85,822,994 (GRCm39)	T278A	probably damaging	Het
Phyhip	G	A	14: 70,699,260 (GRCm39)	R21H	probably damaging	Het
Pls1	G	A	9: 95,667,560 (GRCm39)	T116I	probably damaging	Het
Pnn	C	A	12: 59,119,200 (GRCm39)	S594R	unknown	Het
Psen1	T	A	12: 83,761,540 (GRCm39)	I114N	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Slc12a7	T	A	13: 73,933,188 (GRCm39)	V82E	probably damaging	Het
Slc25a44	A	G	3: 88,323,368 (GRCm39)	I246T	probably benign	Het
Slc2a13	T	A	15: 91,296,390 (GRCm39)	Y308F	probably benign	Het
Sntb2	C	A	8: 107,662,930 (GRCm39)	A166E	possibly damaging	Het
Tas2r135	T	A	6: 42,382,881 (GRCm39)	V140D	possibly damaging	Het
Tdrd6	T	C	17: 43,935,937 (GRCm39)	T1704A	probably benign	Het
Txndc12	A	G	4: 108,718,606 (GRCm39)	D159G	probably benign	Het
Ubash3a	T	C	17: 31,427,139 (GRCm39)	L16P	probably benign	Het
Usp4	T	C	9: 108,245,055 (GRCm39)	L331P	probably damaging	Het
Vmn2r108	T	C	17: 20,692,532 (GRCm39)	D108G	probably benign	Het
Vmn2r58	C	A	7: 41,487,123 (GRCm39)	A591S	probably benign	Het
Wdpcp	T	C	11: 21,698,919 (GRCm39)	I566T	probably damaging	Het
Zfp866	T	A	8: 70,218,202 (GRCm39)	K473*	probably null	Het

Other mutations in 2900026A02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02810:2900026A02Rik	APN	5	113,249,401 (GRCm39)	missense	probably damaging	1.00
oyster	UTSW	5	113,330,833 (GRCm39)	missense	probably benign	0.14
pimento	UTSW	5	113,243,473 (GRCm39)	missense	probably damaging	1.00
R1394:2900026A02Rik	UTSW	5	113,249,362 (GRCm39)	missense	probably damaging	1.00
R1395:2900026A02Rik	UTSW	5	113,249,362 (GRCm39)	missense	probably damaging	1.00
R4329:2900026A02Rik	UTSW	5	113,243,455 (GRCm39)	critical splice donor site	probably null
R4766:2900026A02Rik	UTSW	5	113,245,502 (GRCm39)	missense	probably benign	0.01
R6124:2900026A02Rik	UTSW	5	113,331,622 (GRCm39)	missense	probably benign
R6336:2900026A02Rik	UTSW	5	113,331,349 (GRCm39)	missense	possibly damaging	0.88
R6365:2900026A02Rik	UTSW	5	113,330,510 (GRCm39)	missense	probably benign	0.00
R6575:2900026A02Rik	UTSW	5	113,330,683 (GRCm39)	missense	probably damaging	1.00
R6759:2900026A02Rik	UTSW	5	113,331,692 (GRCm39)	missense	probably benign	0.00
R7117:2900026A02Rik	UTSW	5	113,339,250 (GRCm39)	missense	probably benign	0.00
R7168:2900026A02Rik	UTSW	5	113,285,659 (GRCm39)	missense	probably damaging	0.96
R7339:2900026A02Rik	UTSW	5	113,330,938 (GRCm39)	missense	probably benign	0.09
R7450:2900026A02Rik	UTSW	5	113,331,977 (GRCm39)	missense	possibly damaging	0.78
R7525:2900026A02Rik	UTSW	5	113,331,221 (GRCm39)	missense	probably damaging	0.99
R7707:2900026A02Rik	UTSW	5	113,285,852 (GRCm39)	start codon destroyed	probably benign	0.14
R7848:2900026A02Rik	UTSW	5	113,340,007 (GRCm39)	missense	probably damaging	0.96
R7869:2900026A02Rik	UTSW	5	113,332,001 (GRCm39)	missense	possibly damaging	0.47
R7871:2900026A02Rik	UTSW	5	113,331,092 (GRCm39)	missense	probably benign	0.02
R8327:2900026A02Rik	UTSW	5	113,331,685 (GRCm39)	missense	possibly damaging	0.94
R8411:2900026A02Rik	UTSW	5	113,285,588 (GRCm39)	missense	probably benign
R8429:2900026A02Rik	UTSW	5	113,331,302 (GRCm39)	missense	probably benign	0.29
R8940:2900026A02Rik	UTSW	5	113,241,068 (GRCm39)	missense	probably benign	0.07
R9065:2900026A02Rik	UTSW	5	113,323,084 (GRCm39)	missense	probably benign	0.00
R9096:2900026A02Rik	UTSW	5	113,339,793 (GRCm39)	missense
R9182:2900026A02Rik	UTSW	5	113,243,473 (GRCm39)	missense	probably damaging	1.00
R9191:2900026A02Rik	UTSW	5	113,330,564 (GRCm39)	missense	probably benign	0.34
R9330:2900026A02Rik	UTSW	5	113,330,833 (GRCm39)	missense	probably benign	0.14
R9336:2900026A02Rik	UTSW	5	113,240,966 (GRCm39)	critical splice donor site	probably null
R9375:2900026A02Rik	UTSW	5	113,332,567 (GRCm39)	missense	probably benign
R9388:2900026A02Rik	UTSW	5	113,338,714 (GRCm39)	missense	probably benign	0.00
R9483:2900026A02Rik	UTSW	5	113,339,010 (GRCm39)	missense	probably benign	0.01
R9529:2900026A02Rik	UTSW	5	113,331,682 (GRCm39)	missense	possibly damaging	0.61
R9675:2900026A02Rik	UTSW	5	113,339,827 (GRCm39)	missense	probably damaging	1.00
R9784:2900026A02Rik	UTSW	5	113,338,527 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGAGCTGCTTATCTGCATCATC -3'
(R):5'- CTTACGCACAGACAGAGAGG -3'

Sequencing Primer
(F):5'- CTCCCCTGGAGCAATGGGTG -3'
(R):5'- CTCAGTCTGTTTGGAGAAGACAG -3'

Posted On

2019-10-07