Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01386:Intu'

79047

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01386

Quality Score

Status

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40692587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 630 (D630V)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

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

AlphaFold

Q059U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000091186
AA Change: D630V

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

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: D630V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204176

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,193,672	R214G	probably benign	Het
Cacna1e	T	A	1: 154,472,377	K817N	probably benign	Het
Cyp3a16	A	G	5: 145,440,434	F448L	probably damaging	Het
Dpp6	T	A	5: 27,664,762		probably null	Het
Eif2ak3	C	T	6: 70,892,726	T799M	probably damaging	Het
Erbb4	A	T	1: 68,343,931	S302R	probably damaging	Het
Fam217a	T	A	13: 34,915,649		probably benign	Het
Flt4	C	A	11: 49,637,335	A995D	probably benign	Het
Fpr-rs7	G	A	17: 20,114,192	S12L	probably damaging	Het
Fsd1	C	T	17: 55,996,733	S491F	probably damaging	Het
Hpcal4	T	C	4: 123,189,242		probably null	Het
Jak3	A	G	8: 71,684,289	D703G	probably damaging	Het
Lama4	A	G	10: 39,011,064	I122V	probably benign	Het
Marc2	A	G	1: 184,819,216		probably benign	Het
Mrpl11	A	C	19: 4,963,381	K92T	probably null	Het
Mylk	A	G	16: 34,971,240		probably null	Het
Olfr599	A	T	7: 103,338,767	K238*	probably null	Het
Parpbp	A	C	10: 88,139,986	Y88*	probably null	Het
Plod2	G	A	9: 92,606,602	R627Q	probably damaging	Het
Rapsn	G	T	2: 91,036,799	A149S	probably damaging	Het
Ripk3	T	G	14: 55,786,027	Q109P	probably damaging	Het
Scaf11	T	C	15: 96,420,480	D401G	probably damaging	Het
Serpine2	G	A	1: 79,801,551	T150I	probably damaging	Het
Sh2d6	T	A	6: 72,518,962	T98S	probably benign	Het
Slc28a1	G	T	7: 81,164,679	A513S	probably benign	Het
Tanc2	T	C	11: 105,886,381	F795S	probably damaging	Het
Tcim	T	A	8: 24,438,689	I70F	probably benign	Het
Thbd	G	A	2: 148,407,682	Q89*	probably null	Het
Tmem115	C	T	9: 107,534,660	T61I	probably damaging	Het
Tsc2	A	T	17: 24,613,285	V650E	probably damaging	Het
Tubgcp6	A	T	15: 89,107,996	Y595*	probably null	Het
Uroc1	C	T	6: 90,346,765	A398V	probably damaging	Het
Vmn1r31	T	C	6: 58,472,602	T93A	probably benign	Het
Vmn2r113	A	G	17: 22,956,050	E545G	possibly damaging	Het
Vps13a	A	G	19: 16,701,152	V1155A	possibly damaging	Het
Zfp667	A	G	7: 6,304,870	H179R	probably benign	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Intu	APN	3	40664266	missense	probably benign	0.12
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	splice site	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
R8860:Intu	UTSW	3	40672732	missense	probably benign	0.07
R8926:Intu	UTSW	3	40653709	missense	possibly damaging	0.69
R8946:Intu	UTSW	3	40683359	missense	possibly damaging	0.93
R9164:Intu	UTSW	3	40690703	missense	probably damaging	1.00
R9191:Intu	UTSW	3	40692511	missense	probably damaging	0.99
R9547:Intu	UTSW	3	40654106	missense	probably benign
Z1177:Intu	UTSW	3	40697516	missense	possibly damaging	0.80

Posted On

2013-11-05