Mutagenetix > Incidental Mutation

Incidental Mutation 'R0682:1700001J03Rik'

61003

Institutional Source

Beutler Lab

Gene Symbol

1700001J03Rik

Ensembl Gene

ENSMUSG00000095040

Gene Name

RIKEN cDNA 1700001J03 gene

Synonyms

MMRRC Submission

038867-MU

Accession Numbers

Essential gene?

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

Stock #

R0682 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

146119251-146122114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146121650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 83 (H83R)

Ref Sequence

ENSEMBL: ENSMUSP00000073399 (fasta)

Gene Model

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

AlphaFold

Q80ZR8

Predicted Effect

probably benign
Transcript: ENSMUST00000073721
AA Change: H83R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073399
Gene: ENSMUSG00000095040
AA Change: H83R

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,563,216 (GRCm39)	I471S	possibly damaging	Het
Abcg1	G	A	17: 31,330,225 (GRCm39)	V509I	probably benign	Het
Adamts9	A	T	6: 92,880,783 (GRCm39)	N497K	possibly damaging	Het
Agap2	A	G	10: 126,919,351 (GRCm39)	S479G	unknown	Het
Asic2	T	C	11: 80,777,506 (GRCm39)	I402V	possibly damaging	Het
Atp1a2	G	A	1: 172,112,164 (GRCm39)	T577I	probably benign	Het
Atraid	T	A	5: 31,209,612 (GRCm39)	I92K	probably damaging	Het
Dpp10	C	A	1: 123,832,852 (GRCm39)	A31S	probably damaging	Het
Erich6	A	T	3: 58,544,232 (GRCm39)	F118L	probably benign	Het
Galnt18	T	C	7: 111,119,222 (GRCm39)	Y418C	probably damaging	Het
Herc1	T	A	9: 66,389,263 (GRCm39)	C3927S	possibly damaging	Het
Ifit2	G	A	19: 34,551,012 (GRCm39)	R184H	probably benign	Het
Kif24	A	T	4: 41,428,620 (GRCm39)	N113K	probably benign	Het
Lrp1b	T	A	2: 41,185,653 (GRCm39)	Y1354F	probably benign	Het
Muc1	T	A	3: 89,138,439 (GRCm39)	I427N	probably damaging	Het
Muc5ac	A	G	7: 141,359,406 (GRCm39)	T1288A	possibly damaging	Het
Or7g32	C	A	9: 19,388,645 (GRCm39)	M300I	probably benign	Het
Or9i14	C	T	19: 13,792,501 (GRCm39)	C151Y	possibly damaging	Het
Pex26	T	A	6: 121,161,363 (GRCm39)	V47E	probably damaging	Het
Plekhm2	T	C	4: 141,355,436 (GRCm39)	I871V	probably damaging	Het
Rasal2	A	G	1: 157,006,779 (GRCm39)	S111P	probably damaging	Het
Rnf133	A	T	6: 23,649,569 (GRCm39)	I163N	probably damaging	Het
Rrp8	A	C	7: 105,383,218 (GRCm39)	D349E	probably damaging	Het
Sdhd	G	T	9: 50,511,905 (GRCm39)	Q38K	probably benign	Het
Ssh1	C	T	5: 114,098,718 (GRCm39)	S117N	probably damaging	Het
Tbc1d2b	A	G	9: 90,131,915 (GRCm39)	M148T	probably benign	Het
Tnni3k	A	G	3: 154,645,665 (GRCm39)	S470P	probably damaging	Het
Tnr	C	T	1: 159,679,877 (GRCm39)	Q284*	probably null	Het
Trim30a	A	C	7: 104,078,389 (GRCm39)	V229G	probably damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Uck2	T	C	1: 167,064,259 (GRCm39)	D90G	probably damaging	Het
Vmn1r229	A	T	17: 21,034,950 (GRCm39)	E65V	probably benign	Het
Vmn2r26	A	G	6: 124,038,129 (GRCm39)	E568G	probably damaging	Het
Whamm	A	G	7: 81,235,886 (GRCm39)	E363G	probably damaging	Het
Wrap53	A	G	11: 69,453,272 (GRCm39)	S390P	probably damaging	Het
Wrn	A	G	8: 33,757,848 (GRCm39)	S814P	probably benign	Het
Zfp329	A	G	7: 12,544,211 (GRCm39)	C438R	probably damaging	Het
Zkscan8	T	C	13: 21,710,930 (GRCm39)	Y60C	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
R1808:1700001J03Rik	UTSW	5	146,121,691 (GRCm39)	nonsense	probably null
R2083:1700001J03Rik	UTSW	5	146,121,681 (GRCm39)	missense	possibly damaging	0.75
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'- TGTGACCATGTCACTTTGCAGGTTC -3'
(R):5'- AAGTTGTTGTTAGTCTCCGTGCTCC -3'

Sequencing Primer
(F):5'- ACTTTGCAGGTTCAGACCCAG -3'
(R):5'- ACACTGAGGAGCATTCTTGATG -3'

Posted On

2013-07-30