Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:AU040320'

379791

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126647331-126763487 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 126729469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 544 (K544*)

Ref Sequence

ENSEMBL: ENSMUSP00000099668 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

probably null
Transcript: ENSMUST00000047431
AA Change: K544*

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: K544*

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 null
Transcript: ENSMUST00000102607
AA Change: K544*

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: K544*

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 null
Transcript: ENSMUST00000102608
AA Change: K544*

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: K544*

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,623,264 (GRCm39)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,887,159 (GRCm39)	D276E	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,462,820 (GRCm39)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,557,483 (GRCm39)	L163*	probably null	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	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
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'- TAACTGTTGTCGACTCTGACGG -3'
(R):5'- CAGAGGTCTAAAACTTTCACTAACCAG -3'

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

Posted On

2016-04-15