Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02229:D130043K22Rik'

285437

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 #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24875924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 593 (Y593H)

Ref Sequence

ENSEMBL: ENSMUSP00000116004 (fasta)

Gene Model

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

AlphaFold

Q5SZV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000006893
AA Change: Y593H

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

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: Y593H

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 damaging
Transcript: ENSMUST00000141572
AA Change: Y593H

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

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: Y593H

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,353	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,003,511	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532	N416I	probably benign	Het
Aoc1	C	T	6: 48,905,909	Q240*	probably null	Het
Atl1	G	A	12: 69,926,025	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753	I591V	probably benign	Het
Cic	C	A	7: 25,290,950	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspp1	T	C	1: 10,083,556	S397P	probably damaging	Het
Dck	A	G	5: 88,774,105	Y142C	probably damaging	Het
Eea1	A	T	10: 96,018,184	E568V	probably damaging	Het
Gabra3	A	G	X: 72,501,077		probably null	Het
Gucy2f	A	G	X: 142,179,988	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428		probably benign	Het
Myo18b	A	G	5: 112,878,110	S25P	unknown	Het
Nsd3	A	G	8: 25,710,748	N1289S	probably damaging	Het
Olfr26	T	A	9: 38,855,416	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800		probably benign	Het
Rab3gap2	A	G	1: 185,259,383	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169		probably benign	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
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
R8916:D130043K22Rik	UTSW	13	24872271	missense	probably benign
R9209:D130043K22Rik	UTSW	13	24857107	missense	possibly damaging	0.96
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