Mutagenetix > Incidental Mutation

Incidental Mutation 'R4119:1700013D24Rik'

315225

Institutional Source

Beutler Lab

Gene Symbol

1700013D24Rik

Ensembl Gene

ENSMUSG00000079346

Gene Name

RIKEN cDNA 1700013D24 gene

Synonyms

MMRRC Submission

040992-MU

Accession Numbers

Essential gene?

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

Stock #

R4119 (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 124333863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 39 (L39P)

Ref Sequence

ENSEMBL: ENSMUSP00000108156 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112537
AA Change: L39P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108156
Gene: ENSMUSG00000079346
AA Change: L39P

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,211,877 (GRCm39)	M138V	probably benign	Het
Abl1	T	A	2: 31,691,739 (GRCm39)	I1067N	probably damaging	Het
Adam6a	C	T	12: 113,508,194 (GRCm39)	T189I	probably benign	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Aplnr	T	C	2: 84,967,310 (GRCm39)	Y112H	possibly damaging	Het
Arhgap17	A	G	7: 122,906,217 (GRCm39)	F313S	probably damaging	Het
Arid1b	T	C	17: 5,046,069 (GRCm39)		probably benign	Het
Bcas1	G	C	2: 170,220,735 (GRCm39)	P394A	probably benign	Het
Ccdc116	A	G	16: 16,960,051 (GRCm39)	S213P	probably damaging	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Cenpf	A	G	1: 189,385,242 (GRCm39)	I2346T	probably benign	Het
Chd7	A	G	4: 8,785,658 (GRCm39)		probably benign	Het
Ezh2	A	C	6: 47,521,482 (GRCm39)	N390K	probably benign	Het
Fbxo7	C	A	10: 85,857,759 (GRCm39)		probably benign	Het
Fibin	A	G	2: 110,193,035 (GRCm39)	Y36H	probably damaging	Het
Gpr37	C	T	6: 25,688,425 (GRCm39)	R224H	possibly damaging	Het
Hars2	A	T	18: 36,923,541 (GRCm39)	N363I	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Itpr1	G	A	6: 108,371,316 (GRCm39)	D1140N	probably benign	Het
Lrig2	A	G	3: 104,374,511 (GRCm39)	V190A	probably benign	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Morc2a	C	A	11: 3,633,868 (GRCm39)	T660N	probably benign	Het
Msh3	A	G	13: 92,490,519 (GRCm39)		probably benign	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nbeal1	A	T	1: 60,331,029 (GRCm39)	I2213L	probably damaging	Het
Or10ag57	T	A	2: 87,218,187 (GRCm39)	M46K	possibly damaging	Het
Or5d16	A	G	2: 87,773,787 (GRCm39)	Y62H	probably damaging	Het
P2ry12	T	C	3: 59,125,262 (GRCm39)	T138A	probably benign	Het
Pirb	T	C	7: 3,720,574 (GRCm39)	D308G	probably damaging	Het
Pkn3	A	G	2: 29,973,049 (GRCm39)		probably benign	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,794,153 (GRCm39)	T942A	probably benign	Het
Spata31e5	A	T	1: 28,817,054 (GRCm39)	V326D	probably damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Synpo2	T	A	3: 122,910,799 (GRCm39)	D282V	probably damaging	Het
Tnik	T	C	3: 28,720,324 (GRCm39)	F1287L	probably damaging	Het
Tshz1	T	G	18: 84,032,314 (GRCm39)	K698T	probably benign	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Urb2	T	A	8: 124,773,979 (GRCm39)	D1503E	probably benign	Het
Usp29	T	A	7: 6,965,805 (GRCm39)	N549K	probably benign	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp24	A	G	18: 24,147,626 (GRCm39)	Y229H	possibly damaging	Het
Zfp472	T	A	17: 33,197,189 (GRCm39)	Y421*	probably null	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	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
R0760:1700013D24Rik	UTSW	6	124,324,661 (GRCm39)	missense	possibly damaging	0.46
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
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'- AAGACCTGTGAGCCATGGATC -3'
(R):5'- TCACCCATTGTCTCTGAAGC -3'

Sequencing Primer
(F):5'- ATGGATCACAGCCTTGAGC -3'
(R):5'- ACCCATTGTCTCTGAAGCTATGATG -3'

Posted On

2015-05-14