Mutagenetix > Incidental Mutation

Incidental Mutation 'R6664:AU040320'

526898

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

MMRRC Submission

044784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126647331-126763487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126729443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 535 (Y535F)

Ref Sequence

ENSEMBL: ENSMUSP00000037802 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

probably damaging
Transcript: ENSMUST00000047431
AA Change: Y535F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: Y535F

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 damaging
Transcript: ENSMUST00000102607
AA Change: Y535F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: Y535F

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 damaging
Transcript: ENSMUST00000102608
AA Change: Y535F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: Y535F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155341

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,503,969 (GRCm39)	*394W	probably null	Het
Auh	G	C	13: 53,052,703 (GRCm39)	S138W	probably damaging	Het
Bmp2k	A	T	5: 97,235,989 (GRCm39)	K1137N	probably benign	Het
Btn1a1	A	G	13: 23,643,490 (GRCm39)	Y320H	probably benign	Het
Ccdc18	C	T	5: 108,315,966 (GRCm39)	Q479*	probably null	Het
Cyp4f18	A	T	8: 72,743,759 (GRCm39)	S399T	probably benign	Het
Dcaf13	T	C	15: 38,982,283 (GRCm39)	L83P	probably damaging	Het
Fbxo45	T	C	16: 32,057,234 (GRCm39)	N220S	probably damaging	Het
Fbxw16	T	C	9: 109,267,326 (GRCm39)	M302V	probably benign	Het
Fgb	A	T	3: 82,954,066 (GRCm39)	S57R	probably damaging	Het
Fryl	A	G	5: 73,289,824 (GRCm39)	V134A	probably damaging	Het
Gatad2a	A	G	8: 70,370,139 (GRCm39)	L189P	probably damaging	Het
Ifitm7	T	C	16: 13,801,613 (GRCm39)	T49A	probably benign	Het
Itih1	T	C	14: 30,655,393 (GRCm39)	T601A	probably damaging	Het
Jmjd4	T	C	11: 59,341,245 (GRCm39)	F59L	probably benign	Het
Magi2	C	T	5: 20,907,395 (GRCm39)	S1323L	probably benign	Het
Map3k21	A	G	8: 126,668,610 (GRCm39)	E732G	probably benign	Het
Nr4a3	G	A	4: 48,056,006 (GRCm39)	R344Q	probably damaging	Het
Or1j12	A	G	2: 36,343,110 (GRCm39)	N171S	probably benign	Het
Or52e5	T	A	7: 104,719,395 (GRCm39)	S240R	possibly damaging	Het
Pik3cb	T	C	9: 98,976,591 (GRCm39)	T169A	possibly damaging	Het
Prl3a1	C	A	13: 27,454,194 (GRCm39)	Y57*	probably null	Het
Ripor2	A	T	13: 24,859,803 (GRCm39)	I164F	probably damaging	Het
Sik2	T	C	9: 50,846,757 (GRCm39)	E146G	probably damaging	Het
Szt2	G	A	4: 118,248,942 (GRCm39)	R581C	probably damaging	Het
Tango6	T	A	8: 107,468,746 (GRCm39)	D747E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp945	A	G	17: 23,071,339 (GRCm39)	S187P	probably damaging	Het

Other mutations in AU040320

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:AU040320	APN	4	126,686,027 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TAACTGTTGTCGACTCTGACGG -3'
(R):5'- CAGAGGTCTAAAACTTTCACTAACCAG -3'

Sequencing Primer
(F):5'- TCTGACGGGGCTACCAACTC -3'
(R):5'- CTTTCACTAACCAGCAAATTTCTG -3'

Posted On

2018-07-23