Mutagenetix > Incidental Mutation

Incidental Mutation 'R5782:9130011E15Rik'

501541

Institutional Source

Beutler Lab

Gene Symbol

9130011E15Rik

Ensembl Gene

ENSMUSG00000039901

Gene Name

RIKEN cDNA 9130011E15 gene

Synonyms

MMRRC Submission

043379-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45818144-45998488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45886027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 569 (V569A)

Ref Sequence

ENSEMBL: ENSMUSP00000048454 (fasta)

Gene Model

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

AlphaFold

Q6PD19

Predicted Effect

probably benign
Transcript: ENSMUST00000045396
AA Change: V569A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: V569A

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,532,903	I81M	probably benign	Het
2810403A07Rik	T	G	3: 88,711,678	V563G	probably damaging	Het
Actl9	A	T	17: 33,433,761	Q265L	probably benign	Het
Adamtsl3	T	A	7: 82,540,286		probably null	Het
Agt	A	T	8: 124,557,131		probably null	Het
Ankrd11	A	G	8: 122,900,017	L142P	probably damaging	Het
Arhgef19	C	A	4: 141,256,312	Q719K	probably damaging	Het
Atrnl1	G	T	19: 57,753,286	W1159L	possibly damaging	Het
Atxn2	T	C	5: 121,797,310	Y325H	probably damaging	Het
Brwd1	A	T	16: 96,043,043	Y770*	probably null	Het
Cdc20	T	C	4: 118,433,042	E474G	probably benign	Het
Cdk5rap3	A	G	11: 96,911,586	L254P	probably benign	Het
Cep83	A	T	10: 94,749,032	N333I	probably damaging	Het
Cox4i2	A	C	2: 152,764,811	D150A	probably damaging	Het
Cse1l	A	G	2: 166,929,001	I314M	probably damaging	Het
Cuedc1	A	G	11: 88,170,032	Y67C	probably damaging	Het
Cyp2j9	C	T	4: 96,573,905	V380I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,979	S384P	possibly damaging	Het
Fancd2	A	G	6: 113,548,872	N302S	probably benign	Het
Foxa1	T	A	12: 57,542,516	H306L	probably benign	Het
Gm21994	T	C	2: 150,255,518	E25G	probably benign	Het
Gse1	T	C	8: 120,566,521	S204P	probably damaging	Het
Hspa13	C	A	16: 75,758,097	R367L	probably damaging	Het
Kcnk2	T	G	1: 189,256,579	D267A	probably damaging	Het
Kctd18	A	G	1: 57,959,237	Y68H	probably damaging	Het
Klf7	C	T	1: 64,042,411	E253K	possibly damaging	Het
Lcn12	A	T	2: 25,493,757	F34I	probably damaging	Het
Lrrk2	A	T	15: 91,702,183	R401W	probably damaging	Het
Lzts1	A	T	8: 69,140,698	S86T	probably benign	Het
Mtus1	T	A	8: 41,082,727	I651F	probably damaging	Het
Myl2	T	A	5: 122,104,870	F106L	probably damaging	Het
Neb	T	A	2: 52,264,047	K2351*	probably null	Het
Olfr297	T	A	7: 86,527,213	I152N	probably damaging	Het
Olfr678	T	C	7: 105,069,749	I94T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Parg	A	T	14: 32,274,905	R318*	probably null	Het
Pcdhga3	C	T	18: 37,676,300	S602F	possibly damaging	Het
Pcnx2	A	G	8: 125,753,484	V2028A	probably damaging	Het
Pkhd1	T	C	1: 20,058,600	T3960A	probably benign	Het
Psen1	T	A	12: 83,712,459	H81Q	possibly damaging	Het
Psma6	A	G	12: 55,410,256	N109S	possibly damaging	Het
Ptpro	A	T	6: 137,399,498	I659F	possibly damaging	Het
Rap1gds1	C	G	3: 138,959,079	E288D	possibly damaging	Het
Reln	C	T	5: 22,018,056	R993K	probably benign	Het
Saxo1	T	A	4: 86,445,807	L146F	probably damaging	Het
Six4	A	G	12: 73,104,058	V571A	probably benign	Het
Slc2a10	C	A	2: 165,514,838	Y139*	probably null	Het
Slc34a1	A	G	13: 55,402,688	I66V	possibly damaging	Het
Slfn8	G	T	11: 83,017,041	N46K	probably damaging	Het
Smc6	G	C	12: 11,290,834	A496P	probably damaging	Het
Stk31	T	G	6: 49,469,136	N902K	probably benign	Het
Stk36	T	A	1: 74,605,425	Y114N	possibly damaging	Het
Sult2b1	C	T	7: 45,731,346	V271M	probably damaging	Het
Tenm4	A	G	7: 96,893,039	I1920V	probably benign	Het
Trbc2	A	G	6: 41,546,937		probably benign	Het
Trpc2	A	G	7: 102,083,979	D419G	possibly damaging	Het
Trpm7	T	C	2: 126,797,714	N1654S	probably benign	Het
Tsku	A	T	7: 98,352,850	D91E	probably damaging	Het
Ttn	T	A	2: 76,776,011	R18151S	probably damaging	Het
Tyr	C	T	7: 87,493,016	C112Y	probably damaging	Het
Ubash3a	G	A	17: 31,235,503	G435S	probably benign	Het
Vav1	T	C	17: 57,296,001	I51T	probably damaging	Het
Vmn2r61	T	A	7: 42,299,829	C558S	probably damaging	Het
Zan	C	T	5: 137,420,007	C2943Y	unknown	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp575	C	A	7: 24,585,602	G205C	possibly damaging	Het
Zfp740	G	T	15: 102,208,366		probably benign	Het
Zzz3	A	G	3: 152,428,100	E265G	possibly 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
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
R6674:9130011E15Rik	UTSW	19	45974998	missense	probably benign	0.06
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'- ACTCCTACAGACATCAGGGC -3'
(R):5'- ATCTATTACCAGAGGAGGTGTGAG -3'

Sequencing Primer
(F):5'- TCAGGGCTTAAAATAGTAGTAGTGC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2017-12-01