Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02220:D130043K22Rik'

285102

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24883755 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 825 (G825S)

Ref Sequence

ENSEMBL: ENSMUSP00000006893 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006893
AA Change: G825S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: G825S

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: M778I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: M778I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169411

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,711,172	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,977,499	M1V	probably null	Het
Anks1	T	C	17: 28,054,707	I977T	probably damaging	Het
Bcar1	T	C	8: 111,711,207	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,974,891	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,514,879	G473D	probably damaging	Het
Cdh23	G	T	10: 60,305,124	H3148Q	probably damaging	Het
Col6a4	A	G	9: 106,062,942	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,259,148		probably benign	Het
Dera	T	A	6: 137,780,817		probably null	Het
Dnah17	G	T	11: 118,072,967	Y2506*	probably null	Het
Enam	T	A	5: 88,504,559	L1309*	probably null	Het
Fbxo15	G	A	18: 84,964,192		probably null	Het
Fgfbp1	T	C	5: 43,979,486	K155E	probably damaging	Het
Foxj2	C	T	6: 122,838,581		probably benign	Het
Fuca1	A	G	4: 135,939,219		probably benign	Het
Gad1-ps	T	A	10: 99,445,322		noncoding transcript	Het
H2-Eb2	C	T	17: 34,325,687		probably benign	Het
Insr	A	T	8: 3,159,578	F1168L	probably damaging	Het
Isx	T	A	8: 74,892,705	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,367,989		probably benign	Het
Lin9	T	C	1: 180,667,367	I218T	probably damaging	Het
Llgl2	C	A	11: 115,845,379	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,829,309	E488G	possibly damaging	Het
Maml3	A	G	3: 51,690,218	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,715,655	I14T	probably damaging	Het
Myo3b	A	G	2: 70,289,579		probably benign	Het
Nfkbil1	T	C	17: 35,220,746	R264G	possibly damaging	Het
Olfr140	A	G	2: 90,051,694	L210P	probably damaging	Het
Pde5a	G	T	3: 122,748,382	A174S	probably benign	Het
Plch1	A	T	3: 63,698,961	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,481,775	R1171L	probably damaging	Het
Prom1	T	C	5: 44,014,789	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,743		probably benign	Het
Samsn1	A	G	16: 75,883,875		probably null	Het
Sbno2	T	A	10: 80,072,368	T66S	probably benign	Het
Serpina1c	T	A	12: 103,896,079	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,188,270		probably null	Het
Slc18a2	A	G	19: 59,276,556	E324G	probably benign	Het
Slc40a1	A	T	1: 45,911,335	M319K	probably damaging	Het
Slc44a5	T	C	3: 154,250,971	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,842,500	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,190,716	F545S	probably benign	Het
Svop	T	C	5: 114,065,528	D65G	probably benign	Het
Tex30	A	T	1: 44,087,022	S182R	probably benign	Het
Tmem121b	T	C	6: 120,492,337	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 60,973,492		probably benign	Het
Tnrc6a	T	C	7: 123,170,456	S490P	probably benign	Het
Ubr4	A	G	4: 139,388,435	T82A	probably benign	Het
Vps16	A	G	2: 130,441,653	D589G	possibly damaging	Het
Zscan29	A	C	2: 121,166,689	S184A	probably damaging	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
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
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

Posted On

2015-04-16