Mutagenetix > Incidental Mutation

Incidental Mutation 'R8916:D130043K22Rik'

678952

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24872271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 529 (V529I)

Ref Sequence

ENSEMBL: ENSMUSP00000006893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]

AlphaFold

Q5SZV5

Predicted Effect

probably benign
Transcript: ENSMUST00000006893
AA Change: V529I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: V529I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	3e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART
FN3	728	808	9.15e1	SMART
PKD	729	820	4.38e-10	SMART
transmembrane domain	965	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141572
AA Change: V529I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: V529I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	2e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	C	A	4: 42,973,034	P789H	probably damaging	Het
2210010C04Rik	T	A	6: 41,033,169	H77L	probably damaging	Het
Adamts16	A	G	13: 70,793,188	L360S	probably damaging	Het
AW554918	T	C	18: 25,289,992	Y167H	probably damaging	Het
Cdh18	A	T	15: 23,410,727	I433F	probably damaging	Het
Cenpj	A	T	14: 56,552,895	F566I	probably damaging	Het
Cntn4	T	A	6: 106,675,954	Y795N	probably damaging	Het
Col4a4	C	T	1: 82,523,946	G362E	unknown	Het
Crebrf	A	G	17: 26,739,609	T18A	probably damaging	Het
Dars2	T	C	1: 161,053,982	T326A	probably benign	Het
Eif4e	T	C	3: 138,550,282		probably benign	Het
Enpp2	T	C	15: 54,870,326	M413V	possibly damaging	Het
Fam129b	T	A	2: 32,921,094	M372K	possibly damaging	Het
Fam71a	A	G	1: 191,163,660	I262T	probably benign	Het
Fbn1	T	C	2: 125,403,229	D246G	possibly damaging	Het
Foxred2	A	G	15: 77,953,314	S241P	probably damaging	Het
Fras1	T	C	5: 96,752,915	F2998L	probably damaging	Het
Grb10	T	C	11: 11,951,599	T192A	probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Hinfp	A	T	9: 44,298,376	F234I	probably damaging	Het
Hmcn1	A	T	1: 150,773,779	I652N	probably damaging	Het
Hrasls	A	G	16: 29,220,507	D113G	possibly damaging	Het
Kif24	T	C	4: 41,394,963	K771E	probably benign	Het
Lhcgr	A	G	17: 88,753,742		probably null	Het
Lnpk	A	T	2: 74,528,142	S358T	probably benign	Het
Lpcat2	A	T	8: 92,869,688	M118L	probably benign	Het
Lypd1	T	A	1: 125,873,383	T127S	unknown	Het
Mettl23	C	T	11: 116,849,285	T194I	probably damaging	Het
Mga	T	C	2: 119,958,338	V2227A	possibly damaging	Het
Mus81	A	T	19: 5,484,186	V368E	probably damaging	Het
Myo3a	T	A	2: 22,567,692	F1046I	probably damaging	Het
Nfia	G	A	4: 98,000,430	V222I	probably benign	Het
Nop9	A	G	14: 55,753,644	E586G	probably benign	Het
Nr2e1	G	A	10: 42,567,868	A286V	possibly damaging	Het
Nup153	G	A	13: 46,709,986	Q300*	probably null	Het
Pnp2	T	C	14: 50,963,777	L202P	probably damaging	Het
Psen2	A	G	1: 180,235,930	F183L	probably benign	Het
Rint1	G	T	5: 23,787,828		probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,579,933		probably benign	Het
Ryr3	C	A	2: 112,778,290	R2335L	probably damaging	Het
Scn1a	T	C	2: 66,277,783	D1544G	probably damaging	Het
Sec31b	A	C	19: 44,532,344	S175A		Het
Sgcg	A	G	14: 61,236,892	S101P	probably damaging	Het
Shb	A	T	4: 45,489,154	S241T	probably damaging	Het
Slc47a2	A	T	11: 61,302,292	L545Q	probably damaging	Het
Spef2	C	A	15: 9,725,180	E164*	probably null	Het
Sphkap	A	T	1: 83,277,387	N880K	possibly damaging	Het
Taf2	A	G	15: 55,036,535	V894A	probably benign	Het
Tgfa	T	G	6: 86,271,454	L146R	probably damaging	Het
Tlr3	C	T	8: 45,403,039	V35I	probably benign	Het
Tlr4	G	A	4: 66,929,031	V132I	probably benign	Het
Tsen34	C	T	7: 3,694,341		probably benign	Het
Ttc13	T	G	8: 124,683,237	K412T	probably damaging	Het
Unc45b	A	G	11: 82,913,212	I72V	probably benign	Het
Vmn1r195	A	G	13: 22,278,969	Y203C	probably damaging	Het
Vmn2r65	T	A	7: 84,946,457	T340S	probably benign	Het
Vmn2r88	T	A	14: 51,411,136	C46S		Het
Ythdf2	A	T	4: 132,204,519	D443E	probably damaging	Het
Zeb2	T	C	2: 44,996,784	R754G	probably damaging	Het
Zfp236	T	A	18: 82,646,226	E478V	probably damaging	Het
Zfp287	A	T	11: 62,714,310	Y590*	probably null	Het
Zfp9	A	T	6: 118,465,262	C146*	probably null	Het

Other mutations in D130043K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:D130043K22Rik	APN	13	24867174	missense	probably damaging	1.00
IGL01114:D130043K22Rik	APN	13	24857156	missense	probably damaging	0.99
IGL01412:D130043K22Rik	APN	13	24887860	missense	probably damaging	1.00
IGL01542:D130043K22Rik	APN	13	24876037	splice site	probably null
IGL01615:D130043K22Rik	APN	13	24899796	missense	probably damaging	1.00
IGL01705:D130043K22Rik	APN	13	24857941	missense	probably benign	0.00
IGL02220:D130043K22Rik	APN	13	24883755	missense	possibly damaging	0.95
IGL02229:D130043K22Rik	APN	13	24875924	missense	probably damaging	1.00
IGL02576:D130043K22Rik	APN	13	24856870	missense	possibly damaging	0.74
IGL03038:D130043K22Rik	APN	13	24879619	missense	probably damaging	1.00
IGL03117:D130043K22Rik	APN	13	24889842	missense	probably damaging	1.00
IGL03014:D130043K22Rik	UTSW	13	24858092	missense	possibly damaging	0.88
R0019:D130043K22Rik	UTSW	13	24880812	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	24880812	missense	probably damaging	1.00
R0020:D130043K22Rik	UTSW	13	24854492	utr 5 prime	probably benign
R0172:D130043K22Rik	UTSW	13	24872406	missense	probably benign	0.16
R0276:D130043K22Rik	UTSW	13	24858045	missense	possibly damaging	0.92
R0304:D130043K22Rik	UTSW	13	24864815	missense	probably benign	0.07
R0335:D130043K22Rik	UTSW	13	24887877	missense	probably damaging	0.98
R0744:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R0833:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R0836:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R1270:D130043K22Rik	UTSW	13	24857338	missense	probably benign	0.00
R1433:D130043K22Rik	UTSW	13	24871341	missense	probably damaging	1.00
R1682:D130043K22Rik	UTSW	13	24882556	missense	probably damaging	1.00
R1772:D130043K22Rik	UTSW	13	24875999	missense	probably damaging	1.00
R1773:D130043K22Rik	UTSW	13	24882602	missense	possibly damaging	0.80
R1800:D130043K22Rik	UTSW	13	24883894	missense	probably damaging	1.00
R1956:D130043K22Rik	UTSW	13	24885595	missense	probably damaging	1.00
R2255:D130043K22Rik	UTSW	13	24856911	missense	probably damaging	1.00
R2445:D130043K22Rik	UTSW	13	24857036	missense	probably benign	0.04
R2568:D130043K22Rik	UTSW	13	24883891	missense	probably damaging	0.97
R4160:D130043K22Rik	UTSW	13	24862696	missense	probably benign	0.02
R4494:D130043K22Rik	UTSW	13	24871356	missense	probably benign	0.16
R4732:D130043K22Rik	UTSW	13	24899665	missense	probably damaging	1.00
R4733:D130043K22Rik	UTSW	13	24899665	missense	probably damaging	1.00
R4782:D130043K22Rik	UTSW	13	24878040	missense	probably damaging	1.00
R4799:D130043K22Rik	UTSW	13	24878040	missense	probably damaging	1.00
R4864:D130043K22Rik	UTSW	13	24863612	missense	probably damaging	1.00
R5155:D130043K22Rik	UTSW	13	24872290	missense	probably damaging	1.00
R5240:D130043K22Rik	UTSW	13	24877977	missense	probably damaging	1.00
R5383:D130043K22Rik	UTSW	13	24857414	missense	probably benign	0.02
R5493:D130043K22Rik	UTSW	13	24863603	missense	probably damaging	1.00
R6184:D130043K22Rik	UTSW	13	24885591	missense	probably damaging	1.00
R6305:D130043K22Rik	UTSW	13	24885685	missense	probably damaging	1.00
R6436:D130043K22Rik	UTSW	13	24877935	missense	probably damaging	1.00
R6980:D130043K22Rik	UTSW	13	24864781	missense	probably damaging	0.98
R7038:D130043K22Rik	UTSW	13	24893408	missense	probably damaging	1.00
R7085:D130043K22Rik	UTSW	13	24872302	missense	possibly damaging	0.95
R7147:D130043K22Rik	UTSW	13	24882563	missense	probably benign	0.31
R7384:D130043K22Rik	UTSW	13	24882605	missense	probably damaging	1.00
R7398:D130043K22Rik	UTSW	13	24893377	missense	probably damaging	0.97
R7584:D130043K22Rik	UTSW	13	24872370	missense	probably damaging	1.00
R7585:D130043K22Rik	UTSW	13	24885585	missense	probably benign	0.01
R7588:D130043K22Rik	UTSW	13	24887893	missense	probably damaging	0.99
R7610:D130043K22Rik	UTSW	13	24876002	missense	probably benign	0.30
R7903:D130043K22Rik	UTSW	13	24876012	missense	probably damaging	0.98
R7966:D130043K22Rik	UTSW	13	24893423	missense	probably damaging	1.00
R8014:D130043K22Rik	UTSW	13	24856702	missense	probably damaging	1.00
R8374:D130043K22Rik	UTSW	13	24857979	missense	probably benign	0.07
R8543:D130043K22Rik	UTSW	13	24889869	missense	probably benign	0.08
R8775:D130043K22Rik	UTSW	13	24856999	nonsense	probably null
R8775-TAIL:D130043K22Rik	UTSW	13	24856999	nonsense	probably null
R8806:D130043K22Rik	UTSW	13	24899635	missense	probably benign	0.11
R9209:D130043K22Rik	UTSW	13	24857107	missense	possibly damaging	0.96
R9524:D130043K22Rik	UTSW	13	24887893	missense	possibly damaging	0.89
Z1177:D130043K22Rik	UTSW	13	24856709	missense	probably damaging	1.00
Z1177:D130043K22Rik	UTSW	13	24856834	missense	probably benign	0.39
Z1177:D130043K22Rik	UTSW	13	24872248	missense	possibly damaging	0.79
Z1177:D130043K22Rik	UTSW	13	24880847	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCACTCAGCATCTCAGAG -3'
(R):5'- GATGACTTGCCTGCATGACC -3'

Sequencing Primer
(F):5'- GTGGGAACATTTTGTGACTCAAAG -3'
(R):5'- GACTTGCCTGCATGACCATCTC -3'

Posted On

2021-08-02