Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:AU040320'

200930

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126647331-126763487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126685824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 133 (K133N)

Ref Sequence

ENSEMBL: ENSMUSP00000099668 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047431
AA Change: K133N

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: K133N

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

possibly damaging
Transcript: ENSMUST00000102607
AA Change: K133N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: K133N

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

possibly damaging
Transcript: ENSMUST00000102608
AA Change: K133N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: K133N

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

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Abca2	T	G	2: 25,337,846 (GRCm39)		probably benign	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Aff4	T	A	11: 53,263,351 (GRCm39)	S124T	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Ak2	C	A	4: 128,896,152 (GRCm39)		probably benign	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Carf	A	G	1: 60,165,065 (GRCm39)		probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Cd274	T	C	19: 29,359,992 (GRCm39)		probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Emc1	A	G	4: 139,098,248 (GRCm39)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Fndc3b	A	G	3: 27,494,334 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Gnptab	A	G	10: 88,281,616 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,659,738 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Inpp5d	A	T	1: 87,625,827 (GRCm39)		probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map3k1	T	C	13: 111,892,405 (GRCm39)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Mthfr	T	A	4: 148,138,029 (GRCm39)		probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nphp3	T	C	9: 103,909,078 (GRCm39)		probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Pkd1l3	A	G	8: 110,363,059 (GRCm39)		probably benign	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prkg1	A	G	19: 30,556,270 (GRCm39)	S559P	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc25a45	T	C	19: 5,929,928 (GRCm39)		probably benign	Het
Slc2a3	A	G	6: 122,714,269 (GRCm39)		probably benign	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Stoml1	A	G	9: 58,167,709 (GRCm39)		probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vmn2r105	G	A	17: 20,449,004 (GRCm39)		probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,458 (GRCm39)	C336W	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGATGAGAGCAGATGCCAAC -3'
(R):5'- TCACTTTAGAATGCTGCATCGCTCC -3'

Sequencing Primer
(F):5'- GAAAATCACCTCCGGCTTCTTG -3'
(R):5'- TGCATCGCTCCATGTGTAG -3'

Posted On

2014-05-23