Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00419:AU040320'

6575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00419

Quality Score

Status

Chromosome

Chromosomal Location

126647331-126763487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126686027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 201 (M201T)

Ref Sequence

ENSEMBL: ENSMUSP00000099668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047431] [ENSMUST00000102607] [ENSMUST00000102608] [ENSMUST00000132660] [ENSMUST00000148935] [ENSMUST00000154640]

AlphaFold

Q8K135

Predicted Effect

probably benign
Transcript: ENSMUST00000047431
AA Change: M201T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: M201T

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: M201T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: M201T

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: M201T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: M201T

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: ENSMUST00000118333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131900

Predicted Effect

probably benign
Transcript: ENSMUST00000132660

Predicted Effect

probably benign
Transcript: ENSMUST00000148935

Predicted Effect

probably benign
Transcript: ENSMUST00000154640

SMART Domains

Protein: ENSMUSP00000122352
Gene: ENSMUSG00000028830

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	C	1: 172,067,373 (GRCm39)	N586K	probably damaging	Het
Bcap29	A	T	12: 31,680,871 (GRCm39)	F38L	probably benign	Het
Bdkrb2	A	G	12: 105,554,562 (GRCm39)		probably benign	Het
Ceacam5	G	T	7: 17,493,481 (GRCm39)	E835*	probably null	Het
Cenpp	T	C	13: 49,801,132 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,804,574 (GRCm39)	V51A	probably damaging	Het
Dmxl2	T	C	9: 54,313,951 (GRCm39)	N1660D	probably damaging	Het
Exosc9	T	C	3: 36,607,288 (GRCm39)		probably benign	Het
Ezh1	T	C	11: 101,085,332 (GRCm39)		probably null	Het
Fbxo24	G	A	5: 137,622,563 (GRCm39)	R68C	probably damaging	Het
Gbp9	T	C	5: 105,241,943 (GRCm39)	I205V	probably benign	Het
Gpc5	A	G	14: 115,607,436 (GRCm39)	Y346C	probably damaging	Het
Hectd1	A	G	12: 51,810,818 (GRCm39)	Y1706H	probably damaging	Het
Igsf9b	A	G	9: 27,230,951 (GRCm39)	Y318C	probably damaging	Het
Map1a	A	T	2: 121,129,508 (GRCm39)	Q182L	probably damaging	Het
Rab11fip3	A	T	17: 26,210,783 (GRCm39)		probably benign	Het
Rbm20	G	A	19: 53,831,695 (GRCm39)	R643Q	probably damaging	Het
Ros1	A	T	10: 51,967,150 (GRCm39)	C1707S	probably damaging	Het
Rpgrip1l	G	T	8: 91,990,202 (GRCm39)	R747S	possibly damaging	Het
Rsph10b	T	C	5: 143,873,905 (GRCm39)	*166R	probably null	Het
Sft2d1	G	A	17: 8,539,437 (GRCm39)	C80Y	possibly damaging	Het
Zdhhc14	T	C	17: 5,802,959 (GRCm39)		probably benign	Het
Zfp300	T	A	X: 20,948,531 (GRCm39)	Y411F	probably damaging	Het
Zfp92	T	C	X: 72,463,764 (GRCm39)		probably benign	Het
Zhx1	A	G	15: 57,916,711 (GRCm39)	F512L	probably damaging	Het

Other mutations in AU040320

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:AU040320	APN	4	126,650,864 (GRCm39)	splice site	probably null
IGL00964:AU040320	APN	4	126,748,199 (GRCm39)	nonsense	probably null
IGL00978:AU040320	APN	4	126,722,632 (GRCm39)	missense	probably benign	0.00
IGL01396:AU040320	APN	4	126,763,171 (GRCm39)	intron	probably benign
IGL02129:AU040320	APN	4	126,717,485 (GRCm39)	missense	probably damaging	1.00
IGL02148:AU040320	APN	4	126,733,469 (GRCm39)	missense	possibly damaging	0.64
IGL02179:AU040320	APN	4	126,729,405 (GRCm39)	missense	probably benign	0.43
IGL02696:AU040320	APN	4	126,736,380 (GRCm39)	missense	probably damaging	1.00
PIT4677001:AU040320	UTSW	4	126,686,030 (GRCm39)	missense	probably benign	0.00
R0063:AU040320	UTSW	4	126,733,465 (GRCm39)	missense	probably damaging	1.00
R0063:AU040320	UTSW	4	126,733,465 (GRCm39)	missense	probably damaging	1.00
R0356:AU040320	UTSW	4	126,731,155 (GRCm39)	missense	probably damaging	1.00
R0865:AU040320	UTSW	4	126,742,677 (GRCm39)	missense	possibly damaging	0.94
R1165:AU040320	UTSW	4	126,717,433 (GRCm39)	splice site	probably benign
R1216:AU040320	UTSW	4	126,710,276 (GRCm39)	splice site	probably benign
R1464:AU040320	UTSW	4	126,685,824 (GRCm39)	missense	possibly damaging	0.92
R1464:AU040320	UTSW	4	126,685,824 (GRCm39)	missense	possibly damaging	0.92
R1751:AU040320	UTSW	4	126,734,517 (GRCm39)	missense	probably damaging	1.00
R1767:AU040320	UTSW	4	126,734,517 (GRCm39)	missense	probably damaging	1.00
R1900:AU040320	UTSW	4	126,747,073 (GRCm39)	splice site	probably null
R2173:AU040320	UTSW	4	126,686,069 (GRCm39)	missense	probably benign	0.02
R2414:AU040320	UTSW	4	126,762,484 (GRCm39)	critical splice acceptor site	probably null
R4061:AU040320	UTSW	4	126,729,488 (GRCm39)	missense	probably damaging	1.00
R4354:AU040320	UTSW	4	126,748,192 (GRCm39)	unclassified	probably benign
R4751:AU040320	UTSW	4	126,748,259 (GRCm39)	splice site	probably null
R4790:AU040320	UTSW	4	126,741,008 (GRCm39)	missense	possibly damaging	0.62
R4799:AU040320	UTSW	4	126,733,462 (GRCm39)	missense	probably benign	0.01
R4825:AU040320	UTSW	4	126,685,586 (GRCm39)	missense	probably damaging	1.00
R4908:AU040320	UTSW	4	126,747,081 (GRCm39)	missense	probably damaging	1.00
R4914:AU040320	UTSW	4	126,729,469 (GRCm39)	nonsense	probably null
R5085:AU040320	UTSW	4	126,722,664 (GRCm39)	missense	possibly damaging	0.83
R5320:AU040320	UTSW	4	126,717,509 (GRCm39)	missense	possibly damaging	0.52
R5410:AU040320	UTSW	4	126,717,509 (GRCm39)	missense	possibly damaging	0.52
R5543:AU040320	UTSW	4	126,735,017 (GRCm39)	missense	probably damaging	1.00
R5684:AU040320	UTSW	4	126,685,939 (GRCm39)	missense	probably benign	0.06
R5729:AU040320	UTSW	4	126,724,208 (GRCm39)	missense	probably damaging	1.00
R5918:AU040320	UTSW	4	126,708,064 (GRCm39)	missense	probably benign	0.32
R6123:AU040320	UTSW	4	126,763,179 (GRCm39)	intron	probably benign
R6456:AU040320	UTSW	4	126,736,284 (GRCm39)	missense	probably benign	0.03
R6523:AU040320	UTSW	4	126,762,553 (GRCm39)	critical splice donor site	probably null
R6591:AU040320	UTSW	4	126,730,463 (GRCm39)	missense	possibly damaging	0.81
R6603:AU040320	UTSW	4	126,686,046 (GRCm39)	missense	probably benign	0.02
R6664:AU040320	UTSW	4	126,729,443 (GRCm39)	missense	probably damaging	1.00
R6691:AU040320	UTSW	4	126,730,463 (GRCm39)	missense	possibly damaging	0.81
R6864:AU040320	UTSW	4	126,741,612 (GRCm39)	missense	probably damaging	0.98
R6891:AU040320	UTSW	4	126,740,231 (GRCm39)	missense	possibly damaging	0.93
R6895:AU040320	UTSW	4	126,685,723 (GRCm39)	missense	probably damaging	1.00
R7064:AU040320	UTSW	4	126,685,865 (GRCm39)	missense	probably benign	0.01
R7351:AU040320	UTSW	4	126,710,237 (GRCm39)	missense	probably damaging	0.98
R7453:AU040320	UTSW	4	126,729,493 (GRCm39)	critical splice donor site	probably null
R7467:AU040320	UTSW	4	126,708,103 (GRCm39)	missense	probably benign	0.06
R7492:AU040320	UTSW	4	126,741,648 (GRCm39)	missense	possibly damaging	0.56
R7513:AU040320	UTSW	4	126,686,057 (GRCm39)	missense	probably benign	0.01
R7702:AU040320	UTSW	4	126,708,166 (GRCm39)	missense	probably benign	0.23
R7733:AU040320	UTSW	4	126,729,322 (GRCm39)	missense	possibly damaging	0.88
R8079:AU040320	UTSW	4	126,725,953 (GRCm39)	missense	possibly damaging	0.61
R8430:AU040320	UTSW	4	126,742,693 (GRCm39)	missense	possibly damaging	0.93
R8984:AU040320	UTSW	4	126,734,936 (GRCm39)	missense	possibly damaging	0.58
R9328:AU040320	UTSW	4	126,729,332 (GRCm39)	missense	possibly damaging	0.58
R9501:AU040320	UTSW	4	126,735,032 (GRCm39)	missense	probably benign	0.11
R9721:AU040320	UTSW	4	126,733,441 (GRCm39)	missense	probably damaging	1.00
Z1177:AU040320	UTSW	4	126,736,426 (GRCm39)	missense	probably benign	0.05

Posted On

2012-04-20