Mutagenetix > Incidental Mutation

Incidental Mutation 'R2883:D630039A03Rik'

260905

Institutional Source

Beutler Lab

Gene Symbol

D630039A03Rik

Ensembl Gene

ENSMUSG00000052117

Gene Name

RIKEN cDNA D630039A03 gene

Synonyms

MMRRC Submission

040471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57908483-57916297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57910560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 84 (N84I)

Ref Sequence

ENSEMBL: ENSMUSP00000068932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063816]

AlphaFold

Q8K0M7

Predicted Effect

probably damaging
Transcript: ENSMUST00000063816
AA Change: N84I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	G	A	8: 122,266,644 (GRCm39)	P81S	probably damaging	Het
Arhgef10l	T	C	4: 140,244,113 (GRCm39)	Q790R	probably benign	Het
Asic2	T	A	11: 80,784,839 (GRCm39)	I367F	possibly damaging	Het
Asxl2	T	C	12: 3,551,830 (GRCm39)	S1191P	probably benign	Het
Bod1l	A	G	5: 41,989,602 (GRCm39)	S374P	probably benign	Het
C1qtnf7	T	A	5: 43,773,222 (GRCm39)	F167I	probably damaging	Het
Cimip3	C	A	17: 47,747,650 (GRCm39)	V32F	probably damaging	Het
Col13a1	A	G	10: 61,814,135 (GRCm39)	L94P	probably benign	Het
Cped1	A	T	6: 22,143,978 (GRCm39)	T575S	probably damaging	Het
Cpt1b	T	C	15: 89,302,072 (GRCm39)	Y702C	probably benign	Het
Dse	A	T	10: 34,028,503 (GRCm39)	D862E	probably benign	Het
Etl4	A	T	2: 20,810,985 (GRCm39)	T1023S	possibly damaging	Het
Fat4	T	A	3: 39,034,953 (GRCm39)	N2868K	probably damaging	Het
Fgd5	G	A	6: 91,964,090 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,821,868 (GRCm39)	T5867I	possibly damaging	Het
Fuca2	A	G	10: 13,381,695 (GRCm39)	T203A	probably benign	Het
Gli2	T	C	1: 118,795,874 (GRCm39)	I131V	probably damaging	Het
Gtpbp4	A	G	13: 9,040,759 (GRCm39)	V122A	possibly damaging	Het
Kif1b	G	A	4: 149,322,105 (GRCm39)	T938I	possibly damaging	Het
Klhl29	T	C	12: 5,134,036 (GRCm39)	D767G	probably damaging	Het
Mageb3	A	G	2: 121,784,847 (GRCm39)	V285A	probably benign	Het
Myoc	A	G	1: 162,467,185 (GRCm39)	E118G	possibly damaging	Het
Nedd1	A	C	10: 92,530,860 (GRCm39)	F410V	probably damaging	Het
Nipal1	A	T	5: 72,825,073 (GRCm39)	K255N	probably damaging	Het
Npr3	T	C	15: 11,883,410 (GRCm39)	K340E	possibly damaging	Het
Obsl1	C	A	1: 75,473,155 (GRCm39)	G1023C	possibly damaging	Het
Ogdh	T	C	11: 6,284,545 (GRCm39)	L188P	probably damaging	Het
Or51ac3	T	C	7: 103,214,471 (GRCm39)	N5S	probably benign	Het
Or5v1	C	T	17: 37,810,271 (GRCm39)	S243F	probably damaging	Het
Or9q1	T	A	19: 13,805,239 (GRCm39)	I174F	probably damaging	Het
Otogl	G	A	10: 107,604,842 (GRCm39)	T2188M	probably damaging	Het
Pck1	G	A	2: 173,000,368 (GRCm39)	V600I	probably benign	Het
Ranbp17	A	G	11: 33,454,708 (GRCm39)	C42R	probably damaging	Het
Rapgef4	G	A	2: 71,861,469 (GRCm39)	R53H	probably benign	Het
Rbm12	G	A	2: 155,938,995 (GRCm39)	H426Y	probably damaging	Het
Retreg2	C	T	1: 75,123,356 (GRCm39)	P428L	probably benign	Het
Rev3l	G	T	10: 39,701,152 (GRCm39)	S1883I	probably damaging	Het
Rinl	CGGG	CGGGGG	7: 28,497,083 (GRCm39)		probably null	Het
Rora	T	C	9: 69,282,717 (GRCm39)	S356P	probably damaging	Het
Slc31a1	T	C	4: 62,307,008 (GRCm39)	V188A	probably damaging	Het
Slc9a3	A	G	13: 74,306,879 (GRCm39)	K335E	probably damaging	Het
Spata22	C	A	11: 73,235,504 (GRCm39)	H274N	possibly damaging	Het
Srrm1	T	C	4: 135,048,722 (GRCm39)		probably benign	Het
Stab2	A	T	10: 86,803,550 (GRCm39)	I333N	possibly damaging	Het
Supt5	A	G	7: 28,028,745 (GRCm39)	Y153H	possibly damaging	Het
Tyk2	T	C	9: 21,021,883 (GRCm39)	T825A	probably benign	Het
Usp20	G	A	2: 30,908,812 (GRCm39)	V798M	probably benign	Het
Wdr26	A	T	1: 181,038,685 (GRCm39)	D102E	probably damaging	Het

Other mutations in D630039A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:D630039A03Rik	APN	4	57,910,570 (GRCm39)	missense	possibly damaging	0.86
IGL02071:D630039A03Rik	APN	4	57,910,309 (GRCm39)	missense	possibly damaging	0.94
IGL03338:D630039A03Rik	APN	4	57,910,509 (GRCm39)	missense	probably benign	0.12
R1828:D630039A03Rik	UTSW	4	57,910,240 (GRCm39)	missense	probably benign	0.02
R3874:D630039A03Rik	UTSW	4	57,910,606 (GRCm39)	missense	probably benign	0.27
R3875:D630039A03Rik	UTSW	4	57,910,606 (GRCm39)	missense	probably benign	0.27
R4776:D630039A03Rik	UTSW	4	57,910,452 (GRCm39)	missense	possibly damaging	0.72
R5152:D630039A03Rik	UTSW	4	57,910,434 (GRCm39)	missense	probably damaging	1.00
R7003:D630039A03Rik	UTSW	4	57,910,521 (GRCm39)	missense	probably damaging	0.97
R8162:D630039A03Rik	UTSW	4	57,910,525 (GRCm39)	missense	probably benign	0.02
R8875:D630039A03Rik	UTSW	4	57,910,320 (GRCm39)	missense	probably benign	0.01
R9168:D630039A03Rik	UTSW	4	57,910,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACATCAGTGTCTCCCTCGG -3'
(R):5'- TACTCTGGGTATCTGGTCCC -3'

Sequencing Primer
(F):5'- GGTTCTGGCTCCACAAGGTATC -3'
(R):5'- CCCTTGGCATTCAGGGTCTG -3'

Posted On

2015-01-23