Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:AU040320'

27344

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

126753544-126870070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126828839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 383 (D383E)

Ref Sequence

ENSEMBL: ENSMUSP00000037802 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

probably benign
Transcript: ENSMUST00000047431
AA Change: D383E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: D383E

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
AA Change: D383E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: D383E

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
AA Change: D383E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: D383E

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

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	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
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
R1165:AU040320	UTSW	4	126823640	splice site	probably benign
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
R8079:AU040320	UTSW	4	126832160	missense	possibly damaging	0.61
R8430:AU040320	UTSW	4	126848900	missense	possibly damaging	0.93
R8984:AU040320	UTSW	4	126841143	missense	possibly damaging	0.58
R9328:AU040320	UTSW	4	126835539	missense	possibly damaging	0.58
Z1177:AU040320	UTSW	4	126842633	missense	probably benign	0.05

Posted On

2013-04-17