Mutagenetix > Incidental Mutation

Incidental Mutation 'R2083:1700001J03Rik'

230142

Institutional Source

Beutler Lab

Gene Symbol

1700001J03Rik

Ensembl Gene

ENSMUSG00000095040

Gene Name

RIKEN cDNA 1700001J03 gene

Synonyms

MMRRC Submission

040088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R2083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146119251-146122114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146121681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 73 (M73L)

Ref Sequence

ENSEMBL: ENSMUSP00000073399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073721]

AlphaFold

Q80ZR8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073721
AA Change: M73L

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073399
Gene: ENSMUSG00000095040
AA Change: M73L

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	68	160	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199119

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	T	1: 130,668,806 (GRCm39)	I58F	probably damaging	Het
Acsl3	A	T	1: 78,677,528 (GRCm39)	K507N	probably damaging	Het
Adcy3	T	C	12: 4,223,512 (GRCm39)	Y245H	probably damaging	Het
Adgra1	T	C	7: 139,455,547 (GRCm39)	S392P	probably damaging	Het
Ahnak	C	T	19: 8,988,921 (GRCm39)	P3402S	probably damaging	Het
Ambra1	T	A	2: 91,596,945 (GRCm39)	I12N	possibly damaging	Het
Atp10b	A	G	11: 43,103,250 (GRCm39)	T545A	probably benign	Het
Atxn2	G	T	5: 121,922,069 (GRCm39)	A638S	probably benign	Het
Cd109	T	C	9: 78,574,575 (GRCm39)	S520P	probably damaging	Het
Col6a3	T	C	1: 90,709,733 (GRCm39)	D1821G	unknown	Het
Cyp4a10	T	C	4: 115,382,505 (GRCm39)	V265A	possibly damaging	Het
Dmrtb1	C	T	4: 107,540,809 (GRCm39)	R184Q	possibly damaging	Het
Dnah7b	A	T	1: 46,280,227 (GRCm39)	I2719F	possibly damaging	Het
En2	T	C	5: 28,372,071 (GRCm39)	S183P	probably damaging	Het
Etfb	A	G	7: 43,105,924 (GRCm39)	T101A	probably benign	Het
Etl4	T	A	2: 20,748,360 (GRCm39)	S364T	probably damaging	Het
Gm17728	C	A	17: 9,641,121 (GRCm39)	S77Y	possibly damaging	Het
Golga4	A	G	9: 118,361,658 (GRCm39)	E221G	probably damaging	Het
Gpr37	T	C	6: 25,688,416 (GRCm39)	N227S	possibly damaging	Het
Insyn2b	A	G	11: 34,352,141 (GRCm39)	D61G	probably benign	Het
Kctd1	A	T	18: 15,107,112 (GRCm39)	N784K	possibly damaging	Het
Klhl22	A	G	16: 17,594,389 (GRCm39)	T173A	probably benign	Het
Ly6e	T	A	15: 74,830,168 (GRCm39)	C41S	probably damaging	Het
Mapkbp1	T	C	2: 119,845,963 (GRCm39)	L444P	possibly damaging	Het
Mkx	A	T	18: 6,992,855 (GRCm39)	I143K	probably damaging	Het
Mlh3	A	G	12: 85,315,815 (GRCm39)	F124L	probably benign	Het
Nlrp1a	A	T	11: 71,015,046 (GRCm39)	L68H	possibly damaging	Het
Obscn	A	C	11: 58,964,457 (GRCm39)	Y726*	probably null	Het
Or4f59	C	T	2: 111,872,898 (GRCm39)	V160I	probably benign	Het
Or8d1	T	G	9: 38,766,637 (GRCm39)	V93G	probably benign	Het
Peak1	G	A	9: 56,166,233 (GRCm39)	S565L	probably damaging	Het
Pter	T	A	2: 12,983,247 (GRCm39)	L84Q	probably damaging	Het
Ptpn4	A	G	1: 119,615,489 (GRCm39)	L555P	possibly damaging	Het
Rpp40	A	T	13: 36,082,975 (GRCm39)	M171K	probably benign	Het
Sacs	A	G	14: 61,443,955 (GRCm39)	I2000M	possibly damaging	Het
Scn5a	T	C	9: 119,321,189 (GRCm39)	I1458V	probably benign	Het
Slc38a4	T	C	15: 96,906,874 (GRCm39)	D288G	probably benign	Het
Slc8a2	T	G	7: 15,868,440 (GRCm39)	V224G	probably damaging	Het
Sptbn4	T	C	7: 27,127,681 (GRCm39)	E173G	probably benign	Het
Tas1r1	T	A	4: 152,112,848 (GRCm39)	H735L	probably benign	Het
Trps1	G	T	15: 50,685,701 (GRCm39)	Q155K	probably damaging	Het
Tspyl5	T	C	15: 33,686,892 (GRCm39)	H351R	probably damaging	Het
Ttf2	A	T	3: 100,876,817 (GRCm39)	D21E	probably benign	Het
Ttll7	A	G	3: 146,635,859 (GRCm39)	R398G	possibly damaging	Het
Tubgcp6	A	T	15: 89,006,579 (GRCm39)	Y148N	probably damaging	Het
Vmn1r8	T	A	6: 57,013,325 (GRCm39)	H125Q	probably benign	Het
Zfhx4	A	G	3: 5,468,223 (GRCm39)	T2794A	possibly damaging	Het
Zfp27	T	C	7: 29,594,208 (GRCm39)	I586V	probably benign	Het
Zfyve16	T	C	13: 92,660,770 (GRCm39)	D13G	probably damaging	Het

Other mutations in 1700001J03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02022:1700001J03Rik	APN	5	146,120,358 (GRCm39)	missense	probably damaging	1.00
IGL02141:1700001J03Rik	APN	5	146,120,275 (GRCm39)	missense	probably benign	0.00
IGL02475:1700001J03Rik	APN	5	146,119,343 (GRCm39)	utr 3 prime	probably benign
R0682:1700001J03Rik	UTSW	5	146,121,650 (GRCm39)	missense	probably benign	0.05
R1808:1700001J03Rik	UTSW	5	146,121,691 (GRCm39)	nonsense	probably null
R2919:1700001J03Rik	UTSW	5	146,122,001 (GRCm39)	missense	probably benign	0.00
R3753:1700001J03Rik	UTSW	5	146,121,677 (GRCm39)	missense	probably damaging	1.00
R4764:1700001J03Rik	UTSW	5	146,122,029 (GRCm39)	missense	probably benign	0.00
R7242:1700001J03Rik	UTSW	5	146,121,677 (GRCm39)	missense	probably damaging	1.00
R7578:1700001J03Rik	UTSW	5	146,120,343 (GRCm39)	missense	probably damaging	1.00
R7784:1700001J03Rik	UTSW	5	146,119,638 (GRCm39)	splice site	probably null
R9176:1700001J03Rik	UTSW	5	146,121,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACTGCCAGGGTCCAATC -3'
(R):5'- AGACACTGAGGAGCATTCTTG -3'

Sequencing Primer
(F):5'- GGTCCAATCACCCTTGTTCTATGG -3'
(R):5'- ACACTGAGGAGCATTCTTGATGATTG -3'

Posted On

2014-09-18