Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01792:9830107B12Rik'

155239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9830107B12Rik

Ensembl Gene

ENSMUSG00000073386

Gene Name

RIKEN cDNA 9830107B12 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01792

Quality Score

Status

Chromosome

Chromosomal Location

48436215-48453439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48452680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 86 (F86L)

Ref Sequence

ENSEMBL: ENSMUSP00000070138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063481]

AlphaFold

A9Q7H1

Predicted Effect

probably damaging
Transcript: ENSMUST00000063481
AA Change: F86L

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

SMART Domains

Protein: ENSMUSP00000070138
Gene: ENSMUSG00000073386
AA Change: F86L

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	3.65e-6	SMART
low complexity region	144	158	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,537,642 (GRCm39)	T690A	probably benign	Het
Adam3	T	C	8: 25,187,219 (GRCm39)	N424S	probably benign	Het
Adarb2	T	C	13: 8,620,185 (GRCm39)	F224L	probably damaging	Het
Clcn3	T	C	8: 61,382,356 (GRCm39)	T438A	probably damaging	Het
Cyp2c55	A	G	19: 39,030,631 (GRCm39)	I488V	probably benign	Het
Dennd1a	A	G	2: 38,016,592 (GRCm39)	F84S	probably damaging	Het
Dennd4b	A	G	3: 90,187,152 (GRCm39)	R1475G	probably damaging	Het
Ift172	G	A	5: 31,434,215 (GRCm39)	R508W	probably damaging	Het
Khdrbs2	C	T	1: 32,696,548 (GRCm39)	R326C	probably damaging	Het
Krt78	T	G	15: 101,855,085 (GRCm39)	M909L	probably benign	Het
Ncapg2	T	A	12: 116,389,438 (GRCm39)	F353I	probably damaging	Het
Or10d4c	A	T	9: 39,558,955 (GRCm39)	N311I	probably benign	Het
Pigb	A	T	9: 72,925,268 (GRCm39)	H396Q	probably damaging	Het
Rev3l	C	T	10: 39,699,336 (GRCm39)	P1278S	probably benign	Het
Setd1b	T	A	5: 123,295,209 (GRCm39)	V955D	unknown	Het
Slc22a16	T	A	10: 40,449,928 (GRCm39)	H121Q	possibly damaging	Het
Slc22a29	A	T	19: 8,195,893 (GRCm39)	C49S	probably damaging	Het
Smad1	T	C	8: 80,098,752 (GRCm39)	K21E	probably damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Spic	A	G	10: 88,515,807 (GRCm39)	I5T	possibly damaging	Het
Srpk1	G	A	17: 28,818,441 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,985,484 (GRCm39)	D1559G	probably damaging	Het
Unc13b	T	C	4: 43,250,218 (GRCm39)	F992L	probably damaging	Het

Other mutations in 9830107B12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:9830107B12Rik	APN	17	48,452,855 (GRCm39)	missense	possibly damaging	0.74
IGL01457:9830107B12Rik	APN	17	48,439,193 (GRCm39)	splice site	probably benign
IGL01586:9830107B12Rik	APN	17	48,439,125 (GRCm39)	missense	unknown
IGL01978:9830107B12Rik	APN	17	48,453,164 (GRCm39)	missense	probably damaging	0.99
IGL02347:9830107B12Rik	APN	17	48,452,835 (GRCm39)	nonsense	probably null
R0044:9830107B12Rik	UTSW	17	48,453,357 (GRCm39)	utr 5 prime	probably benign
R4613:9830107B12Rik	UTSW	17	48,439,167 (GRCm39)	missense	probably benign	0.15
R5984:9830107B12Rik	UTSW	17	48,439,165 (GRCm39)	missense	probably benign	0.00
R7565:9830107B12Rik	UTSW	17	48,452,750 (GRCm39)	missense	possibly damaging	0.76
R8070:9830107B12Rik	UTSW	17	48,452,681 (GRCm39)	missense	probably damaging	1.00
R8177:9830107B12Rik	UTSW	17	48,439,174 (GRCm39)	nonsense	probably null
R9143:9830107B12Rik	UTSW	17	48,452,605 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04