Mutagenetix > Incidental Mutation

Incidental Mutation 'R9388:2900026A02Rik'

710424

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 #

R9388 (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 113338714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 433 (T433S)

Ref Sequence

ENSEMBL: ENSMUSP00000147419 (fasta)

Gene Model

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

AlphaFold

Q8BRV5

Predicted Effect

probably benign
Transcript: ENSMUST00000211733
AA Change: T433S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,882,261 (GRCm39)	D1141G	probably benign	Het
Abca17	A	G	17: 24,483,273 (GRCm39)	S1728P	unknown	Het
Adam29	A	C	8: 56,325,285 (GRCm39)	C390G	probably damaging	Het
Angptl4	G	A	17: 33,996,158 (GRCm39)	R273*	probably null	Het
Arfgef3	T	C	10: 18,505,877 (GRCm39)	N929S	probably benign	Het
Baiap3	A	G	17: 25,466,109 (GRCm39)		probably null	Het
Btla	T	C	16: 45,059,454 (GRCm39)	S53P	probably damaging	Het
Cand1	A	G	10: 119,047,213 (GRCm39)	F759S	possibly damaging	Het
Cbll1	T	C	12: 31,541,567 (GRCm39)	T104A	probably benign	Het
Chd7	A	G	4: 8,865,756 (GRCm39)	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,661,367 (GRCm39)	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,624,088 (GRCm39)	I381V	probably benign	Het
Dennd2d	T	A	3: 106,395,915 (GRCm39)	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,779,886 (GRCm39)	I3196T	probably damaging	Het
Dock2	C	A	11: 34,212,460 (GRCm39)	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,919,179 (GRCm39)	E423G	probably benign	Het
Ganab	A	G	19: 8,892,302 (GRCm39)	Q826R	probably damaging	Het
Herc4	T	A	10: 63,143,522 (GRCm39)	M684K	probably benign	Het
Hipk2	A	G	6: 38,707,956 (GRCm39)	L613P	probably damaging	Het
Hpf1	A	T	8: 61,353,182 (GRCm39)	I188L	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Kif1a	C	A	1: 93,000,029 (GRCm39)		probably null	Het
Kng1	A	T	16: 22,898,388 (GRCm39)	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,961,862 (GRCm39)	H757Q	probably damaging	Het
Med24	A	T	11: 98,600,893 (GRCm39)	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,170 (GRCm39)	W203*	probably null	Het
Mnt	C	T	11: 74,727,450 (GRCm39)	A112V	probably benign	Het
Myh7b	A	T	2: 155,472,983 (GRCm39)	N1415Y	probably benign	Het
Nipal1	T	A	5: 72,825,557 (GRCm39)	*417R	probably null	Het
Nlrp4c	C	T	7: 6,069,874 (GRCm39)	Q592*	probably null	Het
Obscn	T	C	11: 58,943,489 (GRCm39)	E4220G	probably damaging	Het
Or10al7	C	T	17: 38,366,148 (GRCm39)	C103Y	probably damaging	Het
Or13a23-ps1	G	T	7: 140,118,928 (GRCm39)	C166F	unknown	Het
Or2w1b	T	C	13: 21,300,774 (GRCm39)	L304P	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,853 (GRCm39)	I460F	probably benign	Het
Prb1b	T	C	6: 132,289,437 (GRCm39)	Q129R	unknown	Het
Primpol	G	A	8: 47,034,605 (GRCm39)	T441I	possibly damaging	Het
Ptprc	A	G	1: 138,011,380 (GRCm39)	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,554,117 (GRCm39)	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,693,355 (GRCm39)	I574V	probably benign	Het
Rims3	A	G	4: 120,748,552 (GRCm39)	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,388,393 (GRCm39)	Y776H	probably benign	Het
Skint6	C	T	4: 113,049,838 (GRCm39)	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,727,067 (GRCm39)	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,479,625 (GRCm39)	S61C	probably damaging	Het
Stab1	C	T	14: 30,876,312 (GRCm39)	V926M	probably damaging	Het
Stat1	A	T	1: 52,193,037 (GRCm39)	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,410,041 (GRCm39)	F191S	probably damaging	Het
Ube2o	T	C	11: 116,430,210 (GRCm39)	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 102,900,145 (GRCm39)	N262K	probably benign	Het
Xpnpep1	T	C	19: 52,993,233 (GRCm39)	K365E	probably damaging	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
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
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'- GGTTTGGTCAAATCCGCAG -3'
(R):5'- TCTTAAGCAGGCAGAGACAGAC -3'

Sequencing Primer
(F):5'- TCCCCAGTGTTCTCCGAGG -3'
(R):5'- AGGACTCCAAGGGCCAG -3'

Posted On

2022-04-18