Mutagenetix > Incidental Mutation

Incidental Mutation 'R6674:9130011E15Rik'

527226

Institutional Source

Beutler Lab

Gene Symbol

9130011E15Rik

Ensembl Gene

ENSMUSG00000039901

Gene Name

RIKEN cDNA 9130011E15 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45818144-45998488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45974998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 92 (E92G)

Ref Sequence

ENSEMBL: ENSMUSP00000048454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045396]

AlphaFold

Q6PD19

Predicted Effect

probably benign
Transcript: ENSMUST00000045396
AA Change: E92G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: E92G

Domain	Start	End	E-Value	Type
low complexity region	155	167	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
DUF1741	435	671	5.65e-139	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cluh	A	G	11: 74,666,227	H1005R	probably damaging	Het
Coro2b	C	T	9: 62,432,427	R13H	probably damaging	Het
Depdc1a	T	A	3: 159,526,707	N698K	probably benign	Het
Dusp12	G	A	1: 170,879,748	T257I	probably benign	Het
Esf1	T	A	2: 140,120,806	K782*	probably null	Het
Extl1	T	C	4: 134,358,127	T560A	probably damaging	Het
Gpr179	C	A	11: 97,347,405		probably null	Het
Krt90	G	A	15: 101,557,326	L287F	probably damaging	Het
Mertk	T	C	2: 128,729,357	V77A	probably benign	Het
Nr4a2	C	T	2: 57,112,424	A6T	probably damaging	Het
Pdzd8	G	A	19: 59,301,369	P533L	probably damaging	Het
Plxnb1	G	A	9: 109,108,146	G1132R	probably benign	Het
Ppfia2	A	G	10: 106,927,772	I1209V	probably benign	Het
Slc26a9	A	T	1: 131,765,018	Q696L	probably benign	Het
Sphkap	A	T	1: 83,277,834	S444R	probably benign	Het
Tmem144	A	G	3: 79,839,183	F22L	possibly damaging	Het
Tomm20l	A	G	12: 71,111,533	D30G	probably damaging	Het
Trpc2	A	G	7: 102,096,057	T827A	probably benign	Het
Unc50	T	C	1: 37,437,458	V208A	probably benign	Het
Vmn1r125	T	C	7: 21,272,713	S179P	probably damaging	Het
Vmn1r225	A	C	17: 20,503,115	I273L	probably benign	Het
Vmn2r117	G	A	17: 23,460,049	Q734*	probably null	Het
Vmn2r88	A	G	14: 51,414,338	I378V	probably benign	Het
Zfp507	C	T	7: 35,794,734	V295I	probably damaging	Het
Zfp981	A	G	4: 146,535,493	R35G	probably damaging	Het

Other mutations in 9130011E15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:9130011E15Rik	APN	19	45940488	missense	probably benign	0.19
IGL00788:9130011E15Rik	APN	19	45932350	critical splice donor site	probably null
IGL01356:9130011E15Rik	APN	19	45966303	missense	possibly damaging	0.94
IGL01477:9130011E15Rik	APN	19	45978604	missense	probably damaging	0.99
IGL01660:9130011E15Rik	APN	19	45940476	missense	probably damaging	1.00
IGL02193:9130011E15Rik	APN	19	45972884	missense	probably benign	0.02
IGL02863:9130011E15Rik	APN	19	45958411	missense	probably damaging	1.00
IGL03108:9130011E15Rik	APN	19	45820353	missense	probably damaging	0.99
R0035:9130011E15Rik	UTSW	19	45891240	missense	probably damaging	1.00
R0791:9130011E15Rik	UTSW	19	45933868	splice site	probably null
R0792:9130011E15Rik	UTSW	19	45933868	splice site	probably null
R1487:9130011E15Rik	UTSW	19	45940443	critical splice donor site	probably null
R1843:9130011E15Rik	UTSW	19	45975252	missense	probably benign	0.17
R2061:9130011E15Rik	UTSW	19	45978667	missense	probably damaging	1.00
R2070:9130011E15Rik	UTSW	19	45891285	missense	probably damaging	1.00
R2072:9130011E15Rik	UTSW	19	45965381	missense	probably damaging	0.99
R2073:9130011E15Rik	UTSW	19	45965381	missense	probably damaging	0.99
R2074:9130011E15Rik	UTSW	19	45965381	missense	probably damaging	0.99
R2091:9130011E15Rik	UTSW	19	45952680	missense	probably damaging	1.00
R2263:9130011E15Rik	UTSW	19	45932349	critical splice donor site	probably null
R2863:9130011E15Rik	UTSW	19	45885957	missense	probably damaging	1.00
R3236:9130011E15Rik	UTSW	19	45975283	splice site	probably benign
R3796:9130011E15Rik	UTSW	19	45921610	splice site	probably benign
R4044:9130011E15Rik	UTSW	19	45820324	missense	probably damaging	1.00
R4716:9130011E15Rik	UTSW	19	45960342	missense	probably damaging	1.00
R4974:9130011E15Rik	UTSW	19	45820287	missense	probably damaging	1.00
R4983:9130011E15Rik	UTSW	19	45950707	missense	probably benign
R5063:9130011E15Rik	UTSW	19	45885955	missense	possibly damaging	0.95
R5313:9130011E15Rik	UTSW	19	45818975	missense	probably damaging	1.00
R5782:9130011E15Rik	UTSW	19	45886027	missense	probably benign	0.08
R5985:9130011E15Rik	UTSW	19	45820324	missense	probably damaging	1.00
R6220:9130011E15Rik	UTSW	19	45846115	missense	possibly damaging	0.79
R6379:9130011E15Rik	UTSW	19	45921697	missense	possibly damaging	0.46
R6842:9130011E15Rik	UTSW	19	45818977	missense	probably benign	0.05
R6890:9130011E15Rik	UTSW	19	45960357	missense	probably damaging	1.00
R7034:9130011E15Rik	UTSW	19	45965249	missense	probably damaging	0.98
R7036:9130011E15Rik	UTSW	19	45965249	missense	probably damaging	0.98
R7305:9130011E15Rik	UTSW	19	45892121	missense	probably benign	0.35
R7411:9130011E15Rik	UTSW	19	45965435	missense	probably benign	0.00
R7762:9130011E15Rik	UTSW	19	45940443	critical splice donor site	probably null
R8021:9130011E15Rik	UTSW	19	45956741	critical splice acceptor site	probably null
R8366:9130011E15Rik	UTSW	19	45932354	missense	probably damaging	1.00
R9336:9130011E15Rik	UTSW	19	45956681	missense	probably damaging	1.00
X0060:9130011E15Rik	UTSW	19	45932393	missense	possibly damaging	0.95
Z1088:9130011E15Rik	UTSW	19	45818905	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGGCTAACACGACAGATGT -3'
(R):5'- CCTCATGAAGGTAGGAGCAGGT -3'

Sequencing Primer
(F):5'- CTTCTACAGGTGAGCTGT -3'
(R):5'- GCTCTCTGCTAGGTAAGATTGTC -3'

Posted On

2018-07-23