Mutagenetix > Incidental Mutation

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

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 (GRCm38)	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,003,511 (GRCm38)	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532 (GRCm38)	N416I	probably benign	Het
Aoc1	C	T	6: 48,905,909 (GRCm38)	Q240*	probably null	Het
Atl1	G	A	12: 69,926,025 (GRCm38)	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753 (GRCm38)	I591V	probably benign	Het
Cic	C	A	7: 25,290,950 (GRCm38)	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686 (GRCm38)	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Cspp1	T	C	1: 10,083,556 (GRCm38)	S397P	probably damaging	Het
Dck	A	G	5: 88,774,105 (GRCm38)	Y142C	probably damaging	Het
Eea1	A	T	10: 96,018,184 (GRCm38)	E568V	probably damaging	Het
Gabra3	A	G	X: 72,501,077 (GRCm38)		probably null	Het
Gucy2f	A	G	X: 142,179,988 (GRCm38)	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825 (GRCm38)	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251 (GRCm38)	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934 (GRCm38)	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733 (GRCm38)	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358 (GRCm38)	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092 (GRCm38)	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616 (GRCm38)	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573 (GRCm38)	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826 (GRCm38)	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341 (GRCm38)	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,878,110 (GRCm38)	S25P	unknown	Het
Nsd3	A	G	8: 25,710,748 (GRCm38)	N1289S	probably damaging	Het
Olfr26	T	A	9: 38,855,416 (GRCm38)	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800 (GRCm38)		probably benign	Het
Rab3gap2	A	G	1: 185,259,383 (GRCm38)	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222 (GRCm38)	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834 (GRCm38)	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600 (GRCm38)	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407 (GRCm38)	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169 (GRCm38)		probably benign	Het

Other mutations in D130043K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:D130043K22Rik	APN	13	24,867,174 (GRCm38)	missense	probably damaging	1.00
IGL01114:D130043K22Rik	APN	13	24,857,156 (GRCm38)	missense	probably damaging	0.99
IGL01412:D130043K22Rik	APN	13	24,887,860 (GRCm38)	missense	probably damaging	1.00
IGL01542:D130043K22Rik	APN	13	24,876,037 (GRCm38)	splice site	probably null
IGL01615:D130043K22Rik	APN	13	24,899,796 (GRCm38)	missense	probably damaging	1.00
IGL01705:D130043K22Rik	APN	13	24,857,941 (GRCm38)	missense	probably benign	0.00
IGL02220:D130043K22Rik	APN	13	24,883,755 (GRCm38)	missense	possibly damaging	0.95
IGL02576:D130043K22Rik	APN	13	24,856,870 (GRCm38)	missense	possibly damaging	0.74
IGL03038:D130043K22Rik	APN	13	24,879,619 (GRCm38)	missense	probably damaging	1.00
IGL03117:D130043K22Rik	APN	13	24,889,842 (GRCm38)	missense	probably damaging	1.00
IGL03014:D130043K22Rik	UTSW	13	24,858,092 (GRCm38)	missense	possibly damaging	0.88
R0019:D130043K22Rik	UTSW	13	24,880,812 (GRCm38)	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	24,880,812 (GRCm38)	missense	probably damaging	1.00
R0020:D130043K22Rik	UTSW	13	24,854,492 (GRCm38)	utr 5 prime	probably benign
R0172:D130043K22Rik	UTSW	13	24,872,406 (GRCm38)	missense	probably benign	0.16
R0276:D130043K22Rik	UTSW	13	24,858,045 (GRCm38)	missense	possibly damaging	0.92
R0304:D130043K22Rik	UTSW	13	24,864,815 (GRCm38)	missense	probably benign	0.07
R0335:D130043K22Rik	UTSW	13	24,887,877 (GRCm38)	missense	probably damaging	0.98
R0744:D130043K22Rik	UTSW	13	24,863,580 (GRCm38)	splice site	probably benign
R0833:D130043K22Rik	UTSW	13	24,863,580 (GRCm38)	splice site	probably benign
R0836:D130043K22Rik	UTSW	13	24,863,580 (GRCm38)	splice site	probably benign
R1270:D130043K22Rik	UTSW	13	24,857,338 (GRCm38)	missense	probably benign	0.00
R1433:D130043K22Rik	UTSW	13	24,871,341 (GRCm38)	missense	probably damaging	1.00
R1682:D130043K22Rik	UTSW	13	24,882,556 (GRCm38)	missense	probably damaging	1.00
R1772:D130043K22Rik	UTSW	13	24,875,999 (GRCm38)	missense	probably damaging	1.00
R1773:D130043K22Rik	UTSW	13	24,882,602 (GRCm38)	missense	possibly damaging	0.80
R1800:D130043K22Rik	UTSW	13	24,883,894 (GRCm38)	missense	probably damaging	1.00
R1956:D130043K22Rik	UTSW	13	24,885,595 (GRCm38)	missense	probably damaging	1.00
R2255:D130043K22Rik	UTSW	13	24,856,911 (GRCm38)	missense	probably damaging	1.00
R2445:D130043K22Rik	UTSW	13	24,857,036 (GRCm38)	missense	probably benign	0.04
R2568:D130043K22Rik	UTSW	13	24,883,891 (GRCm38)	missense	probably damaging	0.97
R4160:D130043K22Rik	UTSW	13	24,862,696 (GRCm38)	missense	probably benign	0.02
R4494:D130043K22Rik	UTSW	13	24,871,356 (GRCm38)	missense	probably benign	0.16
R4732:D130043K22Rik	UTSW	13	24,899,665 (GRCm38)	missense	probably damaging	1.00
R4733:D130043K22Rik	UTSW	13	24,899,665 (GRCm38)	missense	probably damaging	1.00
R4782:D130043K22Rik	UTSW	13	24,878,040 (GRCm38)	missense	probably damaging	1.00
R4799:D130043K22Rik	UTSW	13	24,878,040 (GRCm38)	missense	probably damaging	1.00
R4864:D130043K22Rik	UTSW	13	24,863,612 (GRCm38)	missense	probably damaging	1.00
R5155:D130043K22Rik	UTSW	13	24,872,290 (GRCm38)	missense	probably damaging	1.00
R5240:D130043K22Rik	UTSW	13	24,877,977 (GRCm38)	missense	probably damaging	1.00
R5383:D130043K22Rik	UTSW	13	24,857,414 (GRCm38)	missense	probably benign	0.02
R5493:D130043K22Rik	UTSW	13	24,863,603 (GRCm38)	missense	probably damaging	1.00
R6184:D130043K22Rik	UTSW	13	24,885,591 (GRCm38)	missense	probably damaging	1.00
R6305:D130043K22Rik	UTSW	13	24,885,685 (GRCm38)	missense	probably damaging	1.00
R6436:D130043K22Rik	UTSW	13	24,877,935 (GRCm38)	missense	probably damaging	1.00
R6980:D130043K22Rik	UTSW	13	24,864,781 (GRCm38)	missense	probably damaging	0.98
R7038:D130043K22Rik	UTSW	13	24,893,408 (GRCm38)	missense	probably damaging	1.00
R7085:D130043K22Rik	UTSW	13	24,872,302 (GRCm38)	missense	possibly damaging	0.95
R7147:D130043K22Rik	UTSW	13	24,882,563 (GRCm38)	missense	probably benign	0.31
R7384:D130043K22Rik	UTSW	13	24,882,605 (GRCm38)	missense	probably damaging	1.00
R7398:D130043K22Rik	UTSW	13	24,893,377 (GRCm38)	missense	probably damaging	0.97
R7584:D130043K22Rik	UTSW	13	24,872,370 (GRCm38)	missense	probably damaging	1.00
R7585:D130043K22Rik	UTSW	13	24,885,585 (GRCm38)	missense	probably benign	0.01
R7588:D130043K22Rik	UTSW	13	24,887,893 (GRCm38)	missense	probably damaging	0.99
R7610:D130043K22Rik	UTSW	13	24,876,002 (GRCm38)	missense	probably benign	0.30
R7903:D130043K22Rik	UTSW	13	24,876,012 (GRCm38)	missense	probably damaging	0.98
R7966:D130043K22Rik	UTSW	13	24,893,423 (GRCm38)	missense	probably damaging	1.00
R8014:D130043K22Rik	UTSW	13	24,856,702 (GRCm38)	missense	probably damaging	1.00
R8374:D130043K22Rik	UTSW	13	24,857,979 (GRCm38)	missense	probably benign	0.07
R8543:D130043K22Rik	UTSW	13	24,889,869 (GRCm38)	missense	probably benign	0.08
R8775:D130043K22Rik	UTSW	13	24,856,999 (GRCm38)	nonsense	probably null
R8775-TAIL:D130043K22Rik	UTSW	13	24,856,999 (GRCm38)	nonsense	probably null
R8806:D130043K22Rik	UTSW	13	24,899,635 (GRCm38)	missense	probably benign	0.11
R8916:D130043K22Rik	UTSW	13	24,872,271 (GRCm38)	missense	probably benign
R9209:D130043K22Rik	UTSW	13	24,857,107 (GRCm38)	missense	possibly damaging	0.96
R9524:D130043K22Rik	UTSW	13	24,887,893 (GRCm38)	missense	possibly damaging	0.89
R9743:D130043K22Rik	UTSW	13	24,872,316 (GRCm38)	missense	probably damaging	0.97
Z1177:D130043K22Rik	UTSW	13	24,872,248 (GRCm38)	missense	possibly damaging	0.79
Z1177:D130043K22Rik	UTSW	13	24,856,834 (GRCm38)	missense	probably benign	0.39
Z1177:D130043K22Rik	UTSW	13	24,856,709 (GRCm38)	missense	probably damaging	1.00
Z1177:D130043K22Rik	UTSW	13	24,880,847 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16