Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01292:Intu'

72944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01292

Quality Score

Status

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40664266 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 234 (V234A)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091186]

Predicted Effect

probably benign
Transcript: ENSMUST00000091186
AA Change: V234A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: V234A

Domain	Start	End	E-Value	Type
low complexity region	21	48	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC
PDZ	187	269	2.09e-3	SMART
low complexity region	459	468	N/A	INTRINSIC
low complexity region	774	784	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice show defective ciliogenesis and neural tube closure, abnormal patterning of the CNS and limbs, polydactyly, edema and death by E16.5. Homozygotes for a hypomorphic allele show defective ciliation and endochondral ossification, stunted growth, polydactyly and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,660,874	S1045G	probably benign	Het
Aak1	T	C	6: 86,949,538		probably benign	Het
Car15	A	G	16: 17,835,529	F258S	probably damaging	Het
Cpd	A	G	11: 76,846,245	I241T	possibly damaging	Het
Dchs1	T	C	7: 105,760,891	D1758G	probably damaging	Het
Eogt	T	A	6: 97,144,027	N75I	possibly damaging	Het
Eps8l1	T	C	7: 4,478,920		probably benign	Het
Gdpd4	T	C	7: 98,014,954		probably benign	Het
Igbp1b	C	T	6: 138,657,535	E304K	probably benign	Het
Ighv1-63	A	G	12: 115,495,858	S40P	probably damaging	Het
Lrrc6	A	T	15: 66,481,233		probably benign	Het
Mars	A	T	10: 127,305,518	I334N	probably damaging	Het
Morc2a	C	A	11: 3,688,175	A967D	probably damaging	Het
Mtrf1l	A	T	10: 5,814,090	M291K	probably benign	Het
Muc19	A	G	15: 91,894,276		noncoding transcript	Het
Myl3	A	T	9: 110,767,977	D135V	probably damaging	Het
Myt1	T	A	2: 181,805,012	L537M	probably damaging	Het
Ndst4	A	G	3: 125,438,754	D324G	probably damaging	Het
Plce1	T	A	19: 38,651,785		probably benign	Het
Prkab1	A	T	5: 116,024,110	F47Y	probably damaging	Het
Prkag2	C	T	5: 25,021,965	S98N	probably benign	Het
Rasgef1a	T	A	6: 118,080,383	V15D	possibly damaging	Het
Scgb1b19	T	A	7: 33,287,626	C67*	probably null	Het
Slc25a15	T	C	8: 22,390,036	D31G	possibly damaging	Het
Slc4a11	C	T	2: 130,690,832		probably null	Het
Snx15	A	T	19: 6,119,885	M331K	probably benign	Het
Tsks	T	C	7: 44,952,558	Y224H	probably damaging	Het
Ufd1	T	C	16: 18,821,114	S123P	probably damaging	Het
Xpnpep3	T	G	15: 81,427,498	V135G	probably damaging	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Intu	APN	3	40692587	missense	probably damaging	1.00
IGL02645:Intu	APN	3	40701272	missense	probably benign	0.01
IGL02869:Intu	APN	3	40687786	missense	probably damaging	1.00
IGL03263:Intu	APN	3	40672597	nonsense	probably null
H8562:Intu	UTSW	3	40692673	missense	probably damaging	1.00
PIT4495001:Intu	UTSW	3	40697603	missense	probably benign	0.07
R0010:Intu	UTSW	3	40654272	intron	probably benign
R0173:Intu	UTSW	3	40675346	critical splice donor site	probably null
R0426:Intu	UTSW	3	40675305	missense	probably damaging	0.97
R1566:Intu	UTSW	3	40692578	missense	probably damaging	0.99
R1619:Intu	UTSW	3	40697631	nonsense	probably null
R1658:Intu	UTSW	3	40692781	missense	probably benign	0.20
R1701:Intu	UTSW	3	40664264	missense	probably damaging	1.00
R1707:Intu	UTSW	3	40540924	missense	probably benign	0.03
R1707:Intu	UTSW	3	40683501	missense	possibly damaging	0.69
R1867:Intu	UTSW	3	40664335	missense	probably damaging	1.00
R1868:Intu	UTSW	3	40664335	missense	probably damaging	1.00
R2090:Intu	UTSW	3	40683536	missense	probably benign	0.00
R2310:Intu	UTSW	3	40653813	missense	probably benign
R2989:Intu	UTSW	3	40692710	missense	probably benign	0.11
R4168:Intu	UTSW	3	40672623	missense	probably benign	0.00
R4530:Intu	UTSW	3	40683364	missense	possibly damaging	0.95
R5093:Intu	UTSW	3	40692917	missense	probably benign	0.00
R5541:Intu	UTSW	3	40692587	unclassified	probably null
R5587:Intu	UTSW	3	40675308	missense	probably damaging	0.99
R5745:Intu	UTSW	3	40692972	splice site	probably null
R5809:Intu	UTSW	3	40679590	missense	probably damaging	0.99
R5939:Intu	UTSW	3	40692584	missense	probably damaging	1.00
R5953:Intu	UTSW	3	40679550	missense	probably damaging	1.00
R6000:Intu	UTSW	3	40654148	nonsense	probably null
R6063:Intu	UTSW	3	40654094	missense	probably damaging	0.97
R6245:Intu	UTSW	3	40675326	missense	probably damaging	0.98
R6310:Intu	UTSW	3	40701291	nonsense	probably null
R6353:Intu	UTSW	3	40653708	missense	probably damaging	1.00
R6451:Intu	UTSW	3	40701293	missense	possibly damaging	0.94
R6660:Intu	UTSW	3	40531951	missense	probably benign	0.00
R6848:Intu	UTSW	3	40694255	missense	probably benign	0.00
R7440:Intu	UTSW	3	40697551	missense	probably benign	0.04
R7625:Intu	UTSW	3	40697599	missense	probably benign
R7633:Intu	UTSW	3	40654253	missense	probably damaging	1.00
R7798:Intu	UTSW	3	40691929	missense	probably damaging	1.00
R7877:Intu	UTSW	3	40699792	missense	probably benign	0.07
R7978:Intu	UTSW	3	40697639	missense	probably damaging	1.00
R8319:Intu	UTSW	3	40653772	missense	probably damaging	1.00
R8332:Intu	UTSW	3	40675289	missense	probably benign	0.35
Z1177:Intu	UTSW	3	40697516	missense	possibly damaging	0.80

Posted On

2013-10-07