Incidental Mutation 'R6451:Intu'
| ID |
516333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik |
| MMRRC Submission |
044587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40585559-40659206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40655723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 937
(F937I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091186
AA Change: F937I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: F937I
| 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 |
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,842,733 (GRCm39) |
V1164E |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,380,262 (GRCm39) |
V372A |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,392,883 (GRCm39) |
D313E |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,735,709 (GRCm39) |
R200* |
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,527,150 (GRCm39) |
E129K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,787,230 (GRCm39) |
V382E |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,238,456 (GRCm39) |
V1312I |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,479,060 (GRCm39) |
S168G |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,276,541 (GRCm39) |
K202* |
probably null |
Het |
| Cnep1r1 |
A |
G |
8: 88,846,438 (GRCm39) |
E19G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,022,765 (GRCm39) |
Q1124L |
probably benign |
Het |
| Dph1 |
G |
T |
11: 75,072,143 (GRCm39) |
A242D |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,719,738 (GRCm39) |
Y73* |
probably null |
Het |
| Esp18 |
G |
T |
17: 39,720,853 (GRCm39) |
E33* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,211,241 (GRCm39) |
I395K |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,844,969 (GRCm39) |
C38Y |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,105 (GRCm39) |
S1474T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,868,670 (GRCm39) |
V45M |
probably damaging |
Het |
| Llgl2 |
G |
A |
11: 115,735,767 (GRCm39) |
G121D |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nsmce4a |
G |
T |
7: 130,144,479 (GRCm39) |
|
|
Het |
| Or5w20 |
T |
C |
2: 87,726,935 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,911,007 (GRCm39) |
M243L |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,286,469 (GRCm39) |
V590E |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,021,412 (GRCm39) |
S510L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rnf19a |
A |
G |
15: 36,253,205 (GRCm39) |
I378T |
possibly damaging |
Het |
| Rnf216 |
G |
T |
5: 142,978,589 (GRCm39) |
P793T |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Son |
T |
A |
16: 91,454,490 (GRCm39) |
M1079K |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,596 (GRCm39) |
M166K |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,044,767 (GRCm39) |
E1468K |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,705 (GRCm39) |
I84F |
possibly damaging |
Het |
| Tas2r107 |
T |
A |
6: 131,636,977 (GRCm39) |
D24V |
possibly damaging |
Het |
| Tmc2 |
A |
G |
2: 130,106,123 (GRCm39) |
R885G |
probably damaging |
Het |
| Tox3 |
C |
A |
8: 90,984,687 (GRCm39) |
R164L |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,004,664 (GRCm39) |
I380T |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,076 (GRCm39) |
N89S |
possibly damaging |
Het |
| Zfp944 |
T |
C |
17: 22,557,846 (GRCm39) |
E467G |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,813,982 (GRCm39) |
D2857V |
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 |
|
R5745:Intu
|
UTSW |
3 |
40,647,402 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AGGAGTTTCTACACTCTAAGACAG -3'
(R):5'- GGACCAACCCAATAGGATTGC -3'
Sequencing Primer
(F):5'- AAAACTGGGCTGTATTCTGTTTTC -3'
(R):5'- ACCCAATAGGATTGCATCTCAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation