Incidental Mutation 'R5745:Intu'
| ID |
462707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik |
| MMRRC Submission |
043198-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5745 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40585559-40659206 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 40647402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091186
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,828 (GRCm39) |
R74W |
probably damaging |
Het |
| 4933407L21Rik |
T |
G |
1: 85,858,995 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,792,320 (GRCm39) |
I212N |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,801 (GRCm39) |
T879A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,098,307 (GRCm39) |
N361K |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,107,761 (GRCm39) |
N830K |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 102,072,633 (GRCm39) |
D49N |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,443,238 (GRCm39) |
I514V |
probably benign |
Het |
| Fpr1 |
A |
G |
17: 18,097,344 (GRCm39) |
I215T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,491,565 (GRCm39) |
V3668M |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,388 (GRCm39) |
I68L |
probably benign |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,393,889 (GRCm39) |
S2781A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,172,705 (GRCm39) |
S1211T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 129,194,929 (GRCm39) |
I462F |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,461,987 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c5c |
T |
A |
10: 129,299,307 (GRCm39) |
I254N |
probably damaging |
Het |
| Pcsk1 |
A |
C |
13: 75,280,079 (GRCm39) |
S635R |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,246,861 (GRCm39) |
Y280* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
C |
A |
9: 107,478,628 (GRCm39) |
A356S |
probably damaging |
Het |
| Shoc2 |
C |
A |
19: 54,018,323 (GRCm39) |
T485K |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,615,292 (GRCm39) |
S235L |
possibly damaging |
Het |
| Smcr8 |
A |
T |
11: 60,674,977 (GRCm39) |
T918S |
probably benign |
Het |
| Tafa1 |
G |
A |
6: 96,626,146 (GRCm39) |
R128Q |
probably damaging |
Het |
| Tle3 |
C |
A |
9: 61,322,133 (GRCm39) |
F719L |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
possibly damaging |
Het |
|
| Other mutations in Intu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Intu
|
APN |
3 |
40,618,696 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01386:Intu
|
APN |
3 |
40,647,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Intu
|
APN |
3 |
40,655,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02869:Intu
|
APN |
3 |
40,642,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Intu
|
APN |
3 |
40,627,027 (GRCm39) |
nonsense |
probably null |
|
|
H8562:Intu
|
UTSW |
3 |
40,647,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Intu
|
UTSW |
3 |
40,652,033 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0010:Intu
|
UTSW |
3 |
40,608,702 (GRCm39) |
intron |
probably benign |
|
|
R0173:Intu
|
UTSW |
3 |
40,629,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0426:Intu
|
UTSW |
3 |
40,629,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1566:Intu
|
UTSW |
3 |
40,647,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1619:Intu
|
UTSW |
3 |
40,652,061 (GRCm39) |
nonsense |
probably null |
|
|
R1658:Intu
|
UTSW |
3 |
40,647,211 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1701:Intu
|
UTSW |
3 |
40,618,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Intu
|
UTSW |
3 |
40,637,931 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1707:Intu
|
UTSW |
3 |
40,595,073 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1867:Intu
|
UTSW |
3 |
40,618,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Intu
|
UTSW |
3 |
40,618,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Intu
|
UTSW |
3 |
40,637,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2310:Intu
|
UTSW |
3 |
40,608,243 (GRCm39) |
missense |
probably benign |
|
|
R2989:Intu
|
UTSW |
3 |
40,647,140 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4168:Intu
|
UTSW |
3 |
40,627,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4530:Intu
|
UTSW |
3 |
40,637,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5093:Intu
|
UTSW |
3 |
40,647,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5541:Intu
|
UTSW |
3 |
40,647,017 (GRCm39) |
splice site |
probably null |
|
|
R5587:Intu
|
UTSW |
3 |
40,629,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5809:Intu
|
UTSW |
3 |
40,634,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5939:Intu
|
UTSW |
3 |
40,647,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Intu
|
UTSW |
3 |
40,633,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Intu
|
UTSW |
3 |
40,608,578 (GRCm39) |
nonsense |
probably null |
|
|
R6063:Intu
|
UTSW |
3 |
40,608,524 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6245:Intu
|
UTSW |
3 |
40,629,756 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6310:Intu
|
UTSW |
3 |
40,655,721 (GRCm39) |
nonsense |
probably null |
|
|
R6353:Intu
|
UTSW |
3 |
40,608,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6451:Intu
|
UTSW |
3 |
40,655,723 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6660:Intu
|
UTSW |
3 |
40,586,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6848:Intu
|
UTSW |
3 |
40,648,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7440:Intu
|
UTSW |
3 |
40,651,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7625:Intu
|
UTSW |
3 |
40,652,029 (GRCm39) |
missense |
probably benign |
|
|
R7633:Intu
|
UTSW |
3 |
40,608,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Intu
|
UTSW |
3 |
40,646,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Intu
|
UTSW |
3 |
40,654,222 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7978:Intu
|
UTSW |
3 |
40,652,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Intu
|
UTSW |
3 |
40,608,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Intu
|
UTSW |
3 |
40,629,719 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8860:Intu
|
UTSW |
3 |
40,627,162 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8926:Intu
|
UTSW |
3 |
40,608,139 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8946:Intu
|
UTSW |
3 |
40,637,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9164:Intu
|
UTSW |
3 |
40,645,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:Intu
|
UTSW |
3 |
40,646,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9547:Intu
|
UTSW |
3 |
40,608,536 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Intu
|
UTSW |
3 |
40,651,946 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATTCCTTCAAGGCACGG -3'
(R):5'- TGTCAATGTATGTGGCTGAAGC -3'
Sequencing Primer
(F):5'- GAAGCCCAGTCCCTCCAG -3'
(R):5'- GAAAGCACCCATCATTTCA -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation