Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:AU040320'

100916

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1165 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

126753544-126870070 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 126823640 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047431] [ENSMUST00000102607] [ENSMUST00000102608]

Predicted Effect

probably benign
Transcript: ENSMUST00000047431

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC
FN3	113	391	8.45e1	SMART
IG_like	305	398	3.57e1	SMART
PKD	309	400	3.1e-1	SMART
FN3	399	485	2.7e1	SMART
PKD	408	497	1.87e-4	SMART
FN3	502	676	4.47e1	SMART
PKD	503	593	3.22e-8	SMART
IG_like	508	591	1.17e1	SMART
IG_like	597	782	1.66e2	SMART
PKD	599	687	8.98e-7	SMART
PKD	693	784	1.05e-7	SMART
FN3	694	772	3.71e1	SMART
transmembrane domain	927	949	N/A	INTRINSIC
low complexity region	995	1010	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102607

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC
FN3	113	391	8.45e1	SMART
IG_like	305	398	3.57e1	SMART
PKD	309	400	3.1e-1	SMART
FN3	399	485	2.7e1	SMART
PKD	408	497	1.87e-4	SMART
FN3	502	676	4.47e1	SMART
PKD	503	593	3.22e-8	SMART
IG_like	508	591	1.17e1	SMART
IG_like	597	782	1.66e2	SMART
PKD	599	687	8.98e-7	SMART
PKD	693	784	1.05e-7	SMART
FN3	694	772	3.71e1	SMART
transmembrane domain	927	949	N/A	INTRINSIC
low complexity region	995	1010	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102608

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC
FN3	113	391	8.45e1	SMART
IG_like	305	398	3.57e1	SMART
PKD	309	400	3.1e-1	SMART
FN3	399	485	2.7e1	SMART
PKD	408	497	1.87e-4	SMART
FN3	502	676	4.47e1	SMART
PKD	503	593	3.22e-8	SMART
IG_like	508	591	1.17e1	SMART
IG_like	597	782	1.66e2	SMART
PKD	599	687	8.98e-7	SMART
PKD	693	784	1.05e-7	SMART
FN3	694	772	3.71e1	SMART
transmembrane domain	927	949	N/A	INTRINSIC
low complexity region	995	1010	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141918

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
PHENOTYPE: Null mice display decreased susceptibility to adenoviral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in AU040320

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:AU040320	APN	4	126792234	missense	probably benign
IGL00835:AU040320	APN	4	126757071	splice site	probably null
IGL00964:AU040320	APN	4	126854406	nonsense	probably null
IGL00978:AU040320	APN	4	126828839	missense	probably benign	0.00
IGL01396:AU040320	APN	4	126869378	intron	probably benign
IGL02129:AU040320	APN	4	126823692	missense	probably damaging	1.00
IGL02148:AU040320	APN	4	126839676	missense	possibly damaging	0.64
IGL02179:AU040320	APN	4	126835612	missense	probably benign	0.43
IGL02696:AU040320	APN	4	126842587	missense	probably damaging	1.00
PIT4677001:AU040320	UTSW	4	126792237	missense	probably benign	0.00
R0063:AU040320	UTSW	4	126839672	missense	probably damaging	1.00
R0063:AU040320	UTSW	4	126839672	missense	probably damaging	1.00
R0356:AU040320	UTSW	4	126837362	missense	probably damaging	1.00
R0865:AU040320	UTSW	4	126848884	missense	possibly damaging	0.94
R1216:AU040320	UTSW	4	126816483	splice site	probably benign
R1464:AU040320	UTSW	4	126792031	missense	possibly damaging	0.92
R1464:AU040320	UTSW	4	126792031	missense	possibly damaging	0.92
R1751:AU040320	UTSW	4	126840724	missense	probably damaging	1.00
R1767:AU040320	UTSW	4	126840724	missense	probably damaging	1.00
R1900:AU040320	UTSW	4	126853280	splice site	probably null
R2173:AU040320	UTSW	4	126792276	missense	probably benign	0.02
R2414:AU040320	UTSW	4	126868691	critical splice acceptor site	probably null
R4061:AU040320	UTSW	4	126835695	missense	probably damaging	1.00
R4354:AU040320	UTSW	4	126854399	unclassified	probably benign
R4751:AU040320	UTSW	4	126854466	splice site	probably null
R4790:AU040320	UTSW	4	126847215	missense	possibly damaging	0.62
R4799:AU040320	UTSW	4	126839669	missense	probably benign	0.01
R4825:AU040320	UTSW	4	126791793	missense	probably damaging	1.00
R4908:AU040320	UTSW	4	126853288	missense	probably damaging	1.00
R4914:AU040320	UTSW	4	126835676	nonsense	probably null
R5085:AU040320	UTSW	4	126828871	missense	possibly damaging	0.83
R5320:AU040320	UTSW	4	126823716	missense	possibly damaging	0.52
R5410:AU040320	UTSW	4	126823716	missense	possibly damaging	0.52
R5543:AU040320	UTSW	4	126841224	missense	probably damaging	1.00
R5684:AU040320	UTSW	4	126792146	missense	probably benign	0.06
R5729:AU040320	UTSW	4	126830415	missense	probably damaging	1.00
R5918:AU040320	UTSW	4	126814271	missense	probably benign	0.32
R6123:AU040320	UTSW	4	126869386	intron	probably benign
R6456:AU040320	UTSW	4	126842491	missense	probably benign	0.03
R6523:AU040320	UTSW	4	126868760	critical splice donor site	probably null
R6591:AU040320	UTSW	4	126836670	missense	possibly damaging	0.81
R6603:AU040320	UTSW	4	126792253	missense	probably benign	0.02
R6664:AU040320	UTSW	4	126835650	missense	probably damaging	1.00
R6691:AU040320	UTSW	4	126836670	missense	possibly damaging	0.81
R6864:AU040320	UTSW	4	126847819	missense	probably damaging	0.98
R6891:AU040320	UTSW	4	126846438	missense	possibly damaging	0.93
R6895:AU040320	UTSW	4	126791930	missense	probably damaging	1.00
R7064:AU040320	UTSW	4	126792072	missense	probably benign	0.01
R7351:AU040320	UTSW	4	126816444	missense	probably damaging	0.98
R7453:AU040320	UTSW	4	126835700	critical splice donor site	probably null
R7467:AU040320	UTSW	4	126814310	missense	probably benign	0.06
R7492:AU040320	UTSW	4	126847855	missense	possibly damaging	0.56
R7513:AU040320	UTSW	4	126792264	missense	probably benign	0.01
R7702:AU040320	UTSW	4	126814373	missense	probably benign	0.23
R7733:AU040320	UTSW	4	126835529	missense	possibly damaging	0.88

Predicted Primers

Posted On

2014-01-15