Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:AU040320'

426489

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

MMRRC Submission

042979-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126753544-126870070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126823716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 362 (H362L)

Ref Sequence

ENSEMBL: ENSMUSP00000037802 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047431
AA Change: H362L

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: H362L

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: H362L

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: H362L

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: H362L

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: H362L

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473		noncoding transcript	Het
Adam24	A	G	8: 40,681,064	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493		probably null	Het
Ascl5	A	T	1: 136,051,188	I129F	probably damaging	Het
Bpifb9a	A	T	2: 154,270,235	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Ces1e	T	A	8: 93,210,442	I334F	possibly damaging	Het
Clip2	G	A	5: 134,522,791	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547	I237V	probably benign	Het
Gspt1	A	T	16: 11,230,510	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hykk	G	A	9: 54,946,066	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,906,263	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,909,262	T213A	probably damaging	Het
Madd	C	T	2: 91,154,514	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156		probably null	Het
Scap	A	G	9: 110,374,182		probably null	Het
Shank1	T	A	7: 44,351,822	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,281,368		probably null	Het
Tab2	T	C	10: 7,919,821	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106	I268K	probably damaging	Het
Tox2	A	G	2: 163,320,373	M388V	probably benign	Het
Trbv17	T	C	6: 41,163,538	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421	F569L	probably 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
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
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
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
R9501:AU040320	UTSW	4	126841239	missense	probably benign	0.11
R9721:AU040320	UTSW	4	126839648	missense	probably damaging	1.00
Z1177:AU040320	UTSW	4	126842633	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCTTTGGGGTAGGATCTTAAAAC -3'
(R):5'- TAAACAAACACTGGCTGTCCG -3'

Sequencing Primer
(F):5'- CTTAAAACTAAGGCTTTGTCAGGG -3'
(R):5'- CCGCCATGGTGACTTTCTGAAG -3'

Posted On

2016-09-01