Mutagenetix > Incidental Mutation

Incidental Mutation 'R0760:1700013D24Rik'

70046

Institutional Source

Beutler Lab

Gene Symbol

1700013D24Rik

Ensembl Gene

ENSMUSG00000079346

Gene Name

RIKEN cDNA 1700013D24 gene

Synonyms

MMRRC Submission

038940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124324546-124334003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124324661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000108156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112537]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112537
AA Change: V120A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108156
Gene: ENSMUSG00000079346
AA Change: V120A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203817

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.8%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Alcam	C	T	16: 52,116,035 (GRCm39)	V180M	probably benign	Het
Catip	A	G	1: 74,402,118 (GRCm39)		probably benign	Het
Ccm2l	A	C	2: 152,914,104 (GRCm39)	N298T	probably damaging	Het
Ccni	A	G	5: 93,331,188 (GRCm39)	V261A	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5d1	A	G	11: 69,285,999 (GRCm39)	F41L	probably benign	Het
Fbxw8	A	G	5: 118,203,966 (GRCm39)		probably null	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gpaa1	T	C	15: 76,216,119 (GRCm39)	I33T	probably benign	Het
Grip1	T	A	10: 119,853,983 (GRCm39)	S512T	probably damaging	Het
Gtpbp1	G	A	15: 79,603,356 (GRCm39)	G140E	probably damaging	Het
Hspa4l	T	A	3: 40,739,155 (GRCm39)	L681*	probably null	Het
Hspg2	A	G	4: 137,239,660 (GRCm39)	T456A	probably damaging	Het
Igkv3-1	A	T	6: 70,681,119 (GRCm39)	D106V	probably damaging	Het
Inhbc	C	T	10: 127,193,237 (GRCm39)	G260S	probably damaging	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Kif5c	T	C	2: 49,578,765 (GRCm39)	I131T	probably damaging	Het
Kmt2c	A	G	5: 25,558,315 (GRCm39)	Y1133H	possibly damaging	Het
Lama2	A	G	10: 26,920,429 (GRCm39)		probably null	Het
N4bp1	A	G	8: 87,573,540 (GRCm39)	Y744H	probably damaging	Het
Or14j7	C	T	17: 38,235,005 (GRCm39)	Q183*	probably null	Het
Or1n2	A	G	2: 36,797,233 (GRCm39)	S92G	probably benign	Het
Ovol2	A	G	2: 144,173,679 (GRCm39)		probably null	Het
Pappa2	C	A	1: 158,544,531 (GRCm39)		probably null	Het
Pcdh10	G	A	3: 45,335,005 (GRCm39)	E440K	probably benign	Het
Pcsk4	A	G	10: 80,161,775 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,915,802 (GRCm39)	N937S	possibly damaging	Het
Ppp6r1	A	G	7: 4,642,722 (GRCm39)	F541L	probably benign	Het
Rad54l2	A	G	9: 106,596,805 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,312,613 (GRCm39)	P1111L	possibly damaging	Het
Rasal3	A	G	17: 32,611,146 (GRCm39)	F929S	probably benign	Het
Rnf111	A	G	9: 70,336,960 (GRCm39)	V909A	probably damaging	Het
Rnf168	A	G	16: 32,117,204 (GRCm39)		probably null	Het
Slc2a5	T	C	4: 150,224,124 (GRCm39)	L244P	probably benign	Het
Snta1	T	A	2: 154,222,860 (GRCm39)	I288F	probably damaging	Het
Sv2a	G	A	3: 96,095,498 (GRCm39)	C297Y	probably damaging	Het
Trim44	C	T	2: 102,230,905 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,200,805 (GRCm39)	I1164N	possibly damaging	Het

Other mutations in 1700013D24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02221:1700013D24Rik	APN	6	124,333,907 (GRCm39)	missense	probably benign	0.00
IGL03369:1700013D24Rik	APN	6	124,333,380 (GRCm39)	missense	possibly damaging	0.66
R1984:1700013D24Rik	UTSW	6	124,324,778 (GRCm39)	missense	probably damaging	0.99
R2146:1700013D24Rik	UTSW	6	124,324,803 (GRCm39)	splice site	probably null
R4035:1700013D24Rik	UTSW	6	124,333,879 (GRCm39)	missense	probably benign	0.27
R4119:1700013D24Rik	UTSW	6	124,333,863 (GRCm39)	missense	probably damaging	0.97
R6502:1700013D24Rik	UTSW	6	124,333,908 (GRCm39)	missense	probably benign	0.12
R8425:1700013D24Rik	UTSW	6	124,324,745 (GRCm39)	missense	possibly damaging	0.82
R9179:1700013D24Rik	UTSW	6	124,333,882 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCCGCAGCAAAGGTGCTATTAAG -3'
(R):5'- AGTCATCTCTTGTGATGCTTGCCAG -3'

Sequencing Primer
(F):5'- AAAGGTGCTATTAAGGGTTTGATTTC -3'
(R):5'- GCAATTGGAGTCCCTTGAAACTG -3'

Posted On

2013-09-30