Mutagenetix > Incidental Mutation

Incidental Mutation 'R9330:2900026A02Rik'

706788

Institutional Source

Beutler Lab

Gene Symbol

2900026A02Rik

Ensembl Gene

ENSMUSG00000051339

Gene Name

RIKEN cDNA 2900026A02 gene

Synonyms

LOC231620, Gm449

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9330 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113234189-113369102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113330833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1127 (D1127V)

Ref Sequence

ENSEMBL: ENSMUSP00000147419 (fasta)

Gene Model

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

AlphaFold

Q8BRV5

Predicted Effect

probably benign
Transcript: ENSMUST00000211733
AA Change: D1127V

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	A	G	4: 153,516,961 (GRCm39)	S127P	probably damaging	Het
Cdon	T	A	9: 35,400,275 (GRCm39)	Y996*	probably null	Het
Cnr2	A	G	4: 135,644,312 (GRCm39)	D130G	probably damaging	Het
Cyp2j12	A	G	4: 95,994,791 (GRCm39)	V344A	probably damaging	Het
Cyp4a32	T	A	4: 115,478,635 (GRCm39)	C456S	probably damaging	Het
Dipk1a	A	T	5: 108,059,583 (GRCm39)	D123E	probably benign	Het
Dsc1	T	A	18: 20,243,214 (GRCm39)	T80S	possibly damaging	Het
Esyt2	G	A	12: 116,305,765 (GRCm39)	V332I	probably benign	Het
Fcgbpl1	C	T	7: 27,856,410 (GRCm39)	H2066Y	probably benign	Het
G2e3	C	T	12: 51,403,928 (GRCm39)	Q161*	probably null	Het
Galnt18	C	A	7: 111,071,271 (GRCm39)	R566L	probably benign	Het
Gatb	C	T	3: 85,559,801 (GRCm39)	P542S	probably benign	Het
Gpt	G	A	15: 76,581,215 (GRCm39)	R53H	possibly damaging	Het
Herpud2	T	C	9: 25,036,246 (GRCm39)	E138G	probably damaging	Het
Hivep1	A	G	13: 42,317,713 (GRCm39)	Y2063C	probably damaging	Het
Hoxd12	T	A	2: 74,505,733 (GRCm39)	Y101*	probably null	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Lama4	T	C	10: 38,954,722 (GRCm39)	F1092L	probably damaging	Het
Lrp1b	A	G	2: 41,012,993 (GRCm39)	S1985P		Het
Malrd1	C	T	2: 16,260,089 (GRCm39)	P2103L	unknown	Het
Mbnl1	C	A	3: 60,511,168 (GRCm39)	N41K	possibly damaging	Het
Muc16	T	C	9: 18,552,332 (GRCm39)	N4654D	probably benign	Het
Mug1	A	G	6: 121,859,723 (GRCm39)	T1241A	probably benign	Het
Ncam1	T	C	9: 49,456,097 (GRCm39)	D507G	probably benign	Het
Nfxl1	A	T	5: 72,681,451 (GRCm39)	D693E	probably benign	Het
Npr1	A	T	3: 90,365,979 (GRCm39)	I604N	possibly damaging	Het
Obscn	G	A	11: 58,971,047 (GRCm39)	H2280Y	possibly damaging	Het
Or5b105	T	A	19: 13,080,588 (GRCm39)	I27F	probably benign	Het
Or7c70	T	C	10: 78,683,153 (GRCm39)	T199A	probably benign	Het
Pcdh10	T	C	3: 45,335,618 (GRCm39)	V644A	probably damaging	Het
Pgk2	T	A	17: 40,519,078 (GRCm39)	I117F	probably benign	Het
Pinx1	T	A	14: 64,109,777 (GRCm39)	S110T	probably benign	Het
Pira1	A	T	7: 3,742,234 (GRCm39)	C98S	probably damaging	Het
Psmd1	A	G	1: 86,061,490 (GRCm39)	Y900C	probably damaging	Het
Rab3a	C	T	8: 71,209,881 (GRCm39)	R149C	probably damaging	Het
Samsn1	T	A	16: 75,673,433 (GRCm39)	N148Y	probably damaging	Het
Sin3a	C	T	9: 57,032,481 (GRCm39)	R1142C	probably damaging	Het
Snrnp27	A	G	6: 86,653,184 (GRCm39)	C145R	probably benign	Het
Sorl1	A	C	9: 41,979,229 (GRCm39)	V423G	probably damaging	Het
Sptlc3	G	T	2: 139,388,423 (GRCm39)	M138I	probably benign	Het
Tex15	T	A	8: 34,065,143 (GRCm39)	F1524L	probably benign	Het
Tln2	T	C	9: 67,229,213 (GRCm39)	N113D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfsf14	T	A	17: 57,501,020 (GRCm39)	D17V	probably damaging	Het
Trmt44	T	C	5: 35,727,264 (GRCm39)	D317G	probably damaging	Het
Trpc2	T	C	7: 101,739,764 (GRCm39)	F563L	probably benign	Het
Ubox5	T	C	2: 130,442,165 (GRCm39)	K174R	probably benign	Het
Vrk3	T	C	7: 44,424,910 (GRCm39)	S442P	probably damaging	Het
Wdr64	A	T	1: 175,554,024 (GRCm39)	T185S	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,632 (GRCm39)	C64S	probably damaging	Het
Zfp688	A	G	7: 127,021,077 (GRCm39)	Y34H	probably damaging	Het
Zfp808	A	T	13: 62,319,974 (GRCm39)	H401L	probably benign	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
R7458:2900026A02Rik	UTSW	5	113,338,510 (GRCm39)	missense	probably benign	0.05
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
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'- TTGGGCCAACCTGATCTCTC -3'
(R):5'- ACGAAGAAACATGGAACCTTTC -3'

Sequencing Primer
(F):5'- AACCTGATCTCTCCTGAGGCG -3'
(R):5'- TGGAACCTTTCAAAACACCCG -3'

Posted On

2022-04-18