Mutagenetix > Incidental Mutations

Incidental Mutation 'R5745:3110082I17Rik'

445744

Institutional Source

Beutler Lab

Gene Symbol

3110082I17Rik

Ensembl Gene

ENSMUSG00000053553

Gene Name

RIKEN cDNA 3110082I17 gene

Synonyms

MMRRC Submission

043198-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139359739-139460527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139364073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 74 (R74W)

Ref Sequence

ENSEMBL: ENSMUSP00000142949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066052] [ENSMUST00000198474]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066052
AA Change: R74W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553
AA Change: R74W

Domain	Start	End	E-Value	Type
low complexity region	54	77	N/A	INTRINSIC
Pfam:DUF2373	103	165	3e-26	PFAM
low complexity region	184	194	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196267

Predicted Effect

probably damaging
Transcript: ENSMUST00000198474
AA Change: R74W

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

SMART Domains

Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553
AA Change: R74W

Domain	Start	End	E-Value	Type
low complexity region	54	77	N/A	INTRINSIC
Pfam:DUF2373	102	141	9e-12	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	G	1: 85,931,274		probably null	Het
Adcy8	A	T	15: 64,920,471	I212N	possibly damaging	Het
Cobll1	T	C	2: 65,098,457	T879A	probably damaging	Het
Copb2	T	C	9: 98,574,111	S233P	probably damaging	Het
Cpa5	T	A	6: 30,630,437	M330K	probably damaging	Het
Dgcr8	A	T	16: 18,280,443	N361K	probably benign	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dock8	T	A	19: 25,130,397	N830K	probably benign	Het
Ephb1	C	T	9: 102,195,434	D49N	probably benign	Het
Fam19a1	G	A	6: 96,649,185	R128Q	probably damaging	Het
Fer1l6	A	G	15: 58,571,389	I514V	probably benign	Het
Fpr1	A	G	17: 17,877,082	I215T	probably benign	Het
Hectd4	G	A	5: 121,353,502	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,768	I68L	probably benign	Het
Intu	A	G	3: 40,692,972		probably null	Het
Kel	C	T	6: 41,699,027	G243E	probably damaging	Het
Mycbp2	A	C	14: 103,156,453	S2781A	possibly damaging	Het
Myom2	T	A	8: 15,122,705	S1211T	probably benign	Het
Nrp1	A	T	8: 128,468,448	I462F	probably benign	Het
Olfr787	T	A	10: 129,463,438	I254N	probably damaging	Het
Olfr958	T	C	9: 39,550,691	Y60C	probably damaging	Het
Pcsk1	A	C	13: 75,131,960	S635R	probably benign	Het
Pms1	A	T	1: 53,207,702	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,920		probably benign	Het
Sema3b	C	A	9: 107,601,429	A356S	probably damaging	Het
Shoc2	C	A	19: 54,029,892	T485K	probably benign	Het
Slc7a7	G	A	14: 54,377,835	S235L	possibly damaging	Het
Smcr8	A	T	11: 60,784,151	T918S	probably benign	Het
Tle3	C	A	9: 61,414,851	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,483,075	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,448,471	H57Q	possibly damaging	Het

Other mutations in 3110082I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0614:3110082I17Rik	UTSW	5	139364031	missense	possibly damaging	0.54
R0833:3110082I17Rik	UTSW	5	139364120	missense	possibly damaging	0.54
R0836:3110082I17Rik	UTSW	5	139364120	missense	possibly damaging	0.54
R3784:3110082I17Rik	UTSW	5	139455442	missense	probably damaging	0.99
R3787:3110082I17Rik	UTSW	5	139455442	missense	probably damaging	0.99
R4961:3110082I17Rik	UTSW	5	139364100	missense	probably damaging	1.00
R7126:3110082I17Rik	UTSW	5	139361250	missense	unknown
R7129:3110082I17Rik	UTSW	5	139363983	missense	probably damaging	1.00
R7414:3110082I17Rik	UTSW	5	139364024	missense	probably damaging	0.99
R7934:3110082I17Rik	UTSW	5	139364015	missense	probably benign	0.24
R8169:3110082I17Rik	UTSW	5	139364057	missense	probably damaging	1.00
R8861:3110082I17Rik	UTSW	5	139410887	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACCCCTGCTACAATGGACCAG -3'
(R):5'- TGGTCCGTCCACTTGAAACC -3'

Sequencing Primer
(F):5'- ATGGACCAGCTTCTACCCAGTG -3'
(R):5'- ATCAGCCTCTGAGCTGTGAATAG -3'

Posted On

2016-11-21