Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:AU040320'

193501

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126647331-126763487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126734517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 713 (G713D)

Ref Sequence

ENSEMBL: ENSMUSP00000099668 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

probably damaging
Transcript: ENSMUST00000047431
AA Change: G713D

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

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: G713D

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: G713D

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

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: G713D

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: G713D

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

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: G713D

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: ENSMUST00000155341

Meta Mutation Damage Score

0.8562

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTGCACTCTTGGATAAGCAC -3'
(R):5'- CAGTTGTAGAATGACCCACGGGAAG -3'

Sequencing Primer
(F):5'- AACAGCTCCCTATTCGAGGTG -3'
(R):5'- TGACTCCAGAGCACAATCTCAG -3'

Posted On

2014-05-23