Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:AU040320'

629186

Institutional Source

Beutler Lab

Gene Symbol

AU040320

Ensembl Gene

ENSMUSG00000028830

Gene Name

expressed sequence AU040320

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126753544-126870070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126832160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 454 (K454N)

Ref Sequence

ENSEMBL: ENSMUSP00000099667 (fasta)

Gene Model

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

AlphaFold

Q8K135

Predicted Effect

probably damaging
Transcript: ENSMUST00000047431
AA Change: K454N

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

SMART Domains

Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: K454N

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: K454N

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: K454N

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: K454N

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: K454N

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224		probably null	Het
Akap10	G	A	11: 61,930,054	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,231,316	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641	L1278Q	probably null	Het
Baz2b	T	A	2: 59,900,768	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499		probably null	Het
Gh	T	C	11: 106,301,427	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133	E94V	probably benign	Het
Hira	A	T	16: 18,925,757	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058		probably null	Het
Ifi206	G	A	1: 173,481,158	P424L		Het
Impdh2	T	C	9: 108,563,325	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530		probably null	Het
Lrrc17	C	T	5: 21,561,071	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532	E238*	probably null	Het
Nop14	A	T	5: 34,654,461	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458	H924L	unknown	Het
Per3	T	A	4: 151,042,678	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060	M1270K		Het
Plec	G	A	15: 76,179,550	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Robo4	A	G	9: 37,402,635	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188	K466E	probably benign	Het
Scly	A	T	1: 91,308,367	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366	E75G	probably null	Het
Thpo	T	C	16: 20,726,394	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884		probably null	Het
Usp47	A	T	7: 112,046,970	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452		probably benign	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
R5410: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
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'- TTGAGCTCTCTGACTGGGAG -3'
(R):5'- CAGACGTGGCTTTTCGAAGGAG -3'

Sequencing Primer
(F):5'- AGCTCTCTGACTGGGAGGTTAG -3'
(R):5'- GTCCTAAGAAGCATCCCTAGTGTG -3'

Posted On

2020-06-30