Mutagenetix > Incidental Mutation

Incidental Mutation 'R8327:2900026A02Rik'

644149

Institutional Source

Beutler Lab

Gene Symbol

2900026A02Rik

Ensembl Gene

ENSMUSG00000051339

Gene Name

RIKEN cDNA 2900026A02 gene

Synonyms

LOC231620, Gm449

MMRRC Submission

067858-MU

Accession Numbers

Essential gene?

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

Stock #

R8327 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113234189-113369102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113331685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 843 (D843V)

Ref Sequence

ENSEMBL: ENSMUSP00000147419 (fasta)

Gene Model

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

AlphaFold

Q8BRV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211733
AA Change: D843V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,627,623 (GRCm39)	Q111L	unknown	Het
Abcc5	C	A	16: 20,241,068 (GRCm39)	R39L	probably benign	Het
Acbd3	C	A	1: 180,566,158 (GRCm39)	Q284K	probably damaging	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Apc2	T	G	10: 80,137,764 (GRCm39)	D68E	probably damaging	Het
Apob	A	T	12: 8,051,015 (GRCm39)	I1093F	possibly damaging	Het
Arid2	T	A	15: 96,260,485 (GRCm39)	D411E	probably damaging	Het
Astn1	T	A	1: 158,436,850 (GRCm39)	Y811N	probably damaging	Het
Calhm5	A	C	10: 33,972,064 (GRCm39)	F124V	probably damaging	Het
Ccdc187	T	C	2: 26,170,630 (GRCm39)	H616R	probably benign	Het
Ccdc198	C	T	14: 49,470,356 (GRCm39)	G197S	possibly damaging	Het
Clca4b	T	C	3: 144,627,762 (GRCm39)	Y403C	possibly damaging	Het
Dagla	C	T	19: 10,228,451 (GRCm39)	V656I	probably benign	Het
Dguok	A	C	6: 83,464,061 (GRCm39)	W166G	probably damaging	Het
Dlg5	G	A	14: 24,196,388 (GRCm39)	A1603V	probably damaging	Het
Fanca	G	A	8: 124,039,984 (GRCm39)	Q138*	probably null	Het
Fbxl19	T	A	7: 127,347,520 (GRCm39)	C25*	probably null	Het
Gm49383	C	A	12: 69,243,643 (GRCm39)	E79*	probably null	Het
Lcor	C	T	19: 41,570,996 (GRCm39)	S63L	probably damaging	Het
Lrp2	T	C	2: 69,322,268 (GRCm39)	Y1887C	probably damaging	Het
Mast3	T	C	8: 71,232,062 (GRCm39)	D1305G	probably damaging	Het
Mreg	C	A	1: 72,203,257 (GRCm39)	R107L	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Nxpe2	C	A	9: 48,231,059 (GRCm39)	V437L	probably benign	Het
Or2t49	T	C	11: 58,392,942 (GRCm39)	M153V	probably benign	Het
Or51s1	A	T	7: 102,558,926 (GRCm39)	I40N	probably damaging	Het
Or8c13	T	C	9: 38,091,186 (GRCm39)	E311G	possibly damaging	Het
Pcdhb5	A	C	18: 37,453,953 (GRCm39)	K111T	probably benign	Het
Pi4kb	A	G	3: 94,906,192 (GRCm39)	I580V	probably benign	Het
Plaat3	T	C	19: 7,556,514 (GRCm39)	L105P	probably benign	Het
Rbm15b	A	G	9: 106,761,646 (GRCm39)	S841P	probably benign	Het
Reep2	A	G	18: 34,975,566 (GRCm39)	N31S	probably damaging	Het
Scmh1	C	T	4: 120,379,699 (GRCm39)	H505Y	probably benign	Het
Setd1a	T	A	7: 127,390,669 (GRCm39)	L1115H	unknown	Het
Slc26a3	A	G	12: 31,516,430 (GRCm39)	D596G	possibly damaging	Het
Smg5	G	T	3: 88,252,714 (GRCm39)	A167S	probably damaging	Het
Supv3l1	T	C	10: 62,277,004 (GRCm39)	T255A	probably damaging	Het
Synrg	G	A	11: 83,899,731 (GRCm39)	A568T	probably benign	Het
Tmem132a	G	T	19: 10,836,311 (GRCm39)	P740T	probably benign	Het
Tmem181a	T	C	17: 6,351,680 (GRCm39)	L353P	probably damaging	Het
Tubgcp3	T	C	8: 12,704,343 (GRCm39)	E242G	probably benign	Het
Vmn2r77	A	T	7: 86,450,680 (GRCm39)	T189S	probably benign	Het
Zfp638	T	G	6: 83,905,679 (GRCm39)	L44W	probably damaging	Het
Zfp715	G	A	7: 42,947,482 (GRCm39)	T826I	possibly damaging	Het
Zfp865	G	A	7: 5,034,058 (GRCm39)	S681N	probably benign	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly 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
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'- GGTTGGACCTCCTCATTCTG -3'
(R):5'- TTGGAGTGCTCTCTACAGGC -3'

Sequencing Primer
(F):5'- ATTCTGACTTCAGGCTGGGACAC -3'
(R):5'- AGTGCTCTCTACAGGCTAATGG -3'

Posted On

2020-09-02