Mutagenetix > Incidental Mutation

Incidental Mutation 'R8860:Intu'

675595

Institutional Source

Beutler Lab

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40672732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 314 (M314I)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

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

AlphaFold

Q059U7

Predicted Effect

probably benign
Transcript: ENSMUST00000091186
AA Change: M314I

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: M314I

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

Meta Mutation Damage Score

0.1617

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,184,423	V985G	possibly damaging	Het
Acr	T	G	15: 89,573,854	M246R	probably damaging	Het
Ago4	A	T	4: 126,493,250	D853E	probably benign	Het
Atf6	A	T	1: 170,852,966	F52L	probably null	Het
Blm	A	T	7: 80,494,528	C782S	probably benign	Het
C2cd5	A	G	6: 143,083,220	Y98H	probably benign	Het
Ccdc106	A	G	7: 5,059,571	D192G	probably benign	Het
Celf2	A	G	2: 6,560,657		probably null	Het
Chd1l	A	G	3: 97,570,369	F690S	probably benign	Het
Chuk	A	G	19: 44,087,968	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,685,877	S10T	probably benign	Het
Cma2	G	T	14: 55,973,117	C143F	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Cnppd1	A	G	1: 75,136,419	S402P	probably damaging	Het
Crtc1	A	G	8: 70,388,155	S474P	probably damaging	Het
Dhx38	A	T	8: 109,562,729	L13*	probably null	Het
Fat4	A	T	3: 38,892,120	T1721S	probably benign	Het
Fntb	T	A	12: 76,888,052	V201E	possibly damaging	Het
Gga3	T	C	11: 115,590,418	D242G	probably benign	Het
Hif3a	A	T	7: 17,040,987	M562K	probably benign	Het
Hnrnpc	A	G	14: 52,075,335	S261P	possibly damaging	Het
Lims1	C	T	10: 58,408,103	Q126*	probably null	Het
Lrrc14b	T	A	13: 74,361,289	D333V	probably damaging	Het
Meaf6	T	A	4: 125,086,197	L48Q	probably damaging	Het
Miip	T	A	4: 147,866,382		probably benign	Het
Myh4	T	A	11: 67,241,509	I155N	probably damaging	Het
Nnt	T	C	13: 119,339,871	Y733C		Het
Nup155	T	C	15: 8,130,156	V517A	possibly damaging	Het
Obscn	C	T	11: 59,007,614	R6607Q	unknown	Het
Olfr320	C	T	11: 58,684,140	T89I	probably benign	Het
Olfr571	A	G	7: 102,909,129	S237P	probably benign	Het
Ptprg	T	C	14: 12,213,685	Y1018H	probably damaging	Het
Rdh8	A	C	9: 20,822,725	N69T	probably benign	Het
Rgsl1	G	A	1: 153,821,354	Q572*	probably null	Het
Sept7	A	T	9: 25,252,684	N16Y	possibly damaging	Het
Sparcl1	T	C	5: 104,093,352	N69D	probably benign	Het
Ssh3	A	T	19: 4,267,964	V41E	probably damaging	Het
Tmem253	A	G	14: 52,018,846	R168G	probably benign	Het
Vmn2r60	T	A	7: 42,142,230	F526I	probably damaging	Het
Vmn2r73	A	T	7: 85,872,941		probably benign	Het
Vps4b	A	G	1: 106,782,684	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,815,192	H352L	probably damaging	Het
Zic2	A	T	14: 122,476,118	H148L	possibly damaging	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Intu	APN	3	40664266	missense	probably benign	0.12
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	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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAACAAGGTTTCTGTTTTC -3'
(R):5'- TGCAGACAGTGACAAGGCAC -3'

Sequencing Primer
(F):5'- CTTCTTTTCAGGTGAAGCTGAC -3'
(R):5'- CAGTGACAAGGCACAGGTAAC -3'

Posted On

2021-07-15