Incidental Mutation 'R6451:Intu'
| ID |
516333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik |
| 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 |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40701293 bp (GRCm38)
|
| 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: 80,006,899 (GRCm38) |
V1164E |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,380,262 (GRCm38) |
V372A |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,342,882 (GRCm38) |
D313E |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,424,818 (GRCm38) |
R200* |
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,550,215 (GRCm38) |
E129K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,993,581 (GRCm38) |
V382E |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,000,999 (GRCm38) |
V1312I |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,567,764 (GRCm38) |
S168G |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,092,558 (GRCm38) |
K202* |
probably null |
Het |
| Cnep1r1 |
A |
G |
8: 88,119,810 (GRCm38) |
E19G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,300,808 (GRCm38) |
Q1124L |
probably benign |
Het |
| Dph1 |
G |
T |
11: 75,181,317 (GRCm38) |
A242D |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,831,501 (GRCm38) |
Y73* |
probably null |
Het |
| Esp18 |
G |
T |
17: 39,409,962 (GRCm38) |
E33* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,234,259 (GRCm38) |
I395K |
probably benign |
Het |
| Gm15922 |
C |
G |
7: 3,737,320 (GRCm38) |
A301P |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,844,969 (GRCm38) |
C38Y |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 120,098,908 (GRCm38) |
S1474T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,992,919 (GRCm38) |
V45M |
probably damaging |
Het |
| Llgl2 |
G |
A |
11: 115,844,941 (GRCm38) |
G121D |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 98,073,167 (GRCm38) |
V1184M |
probably benign |
Het |
| Nsmce4a |
G |
T |
7: 130,542,749 (GRCm38) |
|
|
Het |
| Olfr1153 |
T |
C |
2: 87,896,591 (GRCm38) |
Y131H |
probably damaging |
Het |
| Olfr822 |
A |
T |
10: 130,075,138 (GRCm38) |
M243L |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,132,993 (GRCm38) |
V590E |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,021,412 (GRCm38) |
S510L |
probably benign |
Het |
| Rnf19a |
A |
G |
15: 36,253,059 (GRCm38) |
I378T |
possibly damaging |
Het |
| Rnf216 |
G |
T |
5: 142,992,834 (GRCm38) |
P793T |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,783,798 (GRCm38) |
|
probably null |
Het |
| Son |
T |
A |
16: 91,657,602 (GRCm38) |
M1079K |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,658,337 (GRCm38) |
M166K |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,217,201 (GRCm38) |
E1468K |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,949,807 (GRCm38) |
I84F |
possibly damaging |
Het |
| Tas2r107 |
T |
A |
6: 131,660,014 (GRCm38) |
D24V |
possibly damaging |
Het |
| Tmc2 |
A |
G |
2: 130,264,203 (GRCm38) |
R885G |
probably damaging |
Het |
| Tox3 |
C |
A |
8: 90,258,059 (GRCm38) |
R164L |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 50,767,207 (GRCm38) |
I380T |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,928,651 (GRCm38) |
N89S |
possibly damaging |
Het |
| Zfp944 |
T |
C |
17: 22,338,865 (GRCm38) |
E467G |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,923,156 (GRCm38) |
D2857V |
possibly damaging |
Het |
|
| Other mutations in Intu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Intu
|
APN |
3 |
40,664,266 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01386:Intu
|
APN |
3 |
40,692,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02645:Intu
|
APN |
3 |
40,701,272 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02869:Intu
|
APN |
3 |
40,687,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03263:Intu
|
APN |
3 |
40,672,597 (GRCm38) |
nonsense |
probably null |
|
|
H8562:Intu
|
UTSW |
3 |
40,692,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Intu
|
UTSW |
3 |
40,697,603 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0010:Intu
|
UTSW |
3 |
40,654,272 (GRCm38) |
intron |
probably benign |
|
|
R0173:Intu
|
UTSW |
3 |
40,675,346 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0426:Intu
|
UTSW |
3 |
40,675,305 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1566:Intu
|
UTSW |
3 |
40,692,578 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1619:Intu
|
UTSW |
3 |
40,697,631 (GRCm38) |
nonsense |
probably null |
|
|
R1658:Intu
|
UTSW |
3 |
40,692,781 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1701:Intu
|
UTSW |
3 |
40,664,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1707:Intu
|
UTSW |
3 |
40,683,501 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1707:Intu
|
UTSW |
3 |
40,540,924 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1867:Intu
|
UTSW |
3 |
40,664,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1868:Intu
|
UTSW |
3 |
40,664,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2090:Intu
|
UTSW |
3 |
40,683,536 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2310:Intu
|
UTSW |
3 |
40,653,813 (GRCm38) |
missense |
probably benign |
|
|
R2989:Intu
|
UTSW |
3 |
40,692,710 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4168:Intu
|
UTSW |
3 |
40,672,623 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4530:Intu
|
UTSW |
3 |
40,683,364 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5093:Intu
|
UTSW |
3 |
40,692,917 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5541:Intu
|
UTSW |
3 |
40,692,587 (GRCm38) |
splice site |
probably null |
|
|
R5587:Intu
|
UTSW |
3 |
40,675,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5745:Intu
|
UTSW |
3 |
40,692,972 (GRCm38) |
splice site |
probably null |
|
|
R5809:Intu
|
UTSW |
3 |
40,679,590 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5939:Intu
|
UTSW |
3 |
40,692,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5953:Intu
|
UTSW |
3 |
40,679,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6000:Intu
|
UTSW |
3 |
40,654,148 (GRCm38) |
nonsense |
probably null |
|
|
R6063:Intu
|
UTSW |
3 |
40,654,094 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6245:Intu
|
UTSW |
3 |
40,675,326 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6310:Intu
|
UTSW |
3 |
40,701,291 (GRCm38) |
nonsense |
probably null |
|
|
R6353:Intu
|
UTSW |
3 |
40,653,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6660:Intu
|
UTSW |
3 |
40,531,951 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6848:Intu
|
UTSW |
3 |
40,694,255 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7440:Intu
|
UTSW |
3 |
40,697,551 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7625:Intu
|
UTSW |
3 |
40,697,599 (GRCm38) |
missense |
probably benign |
|
|
R7633:Intu
|
UTSW |
3 |
40,654,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7798:Intu
|
UTSW |
3 |
40,691,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7877:Intu
|
UTSW |
3 |
40,699,792 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7978:Intu
|
UTSW |
3 |
40,697,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8319:Intu
|
UTSW |
3 |
40,653,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8332:Intu
|
UTSW |
3 |
40,675,289 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8860:Intu
|
UTSW |
3 |
40,672,732 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8926:Intu
|
UTSW |
3 |
40,653,709 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8946:Intu
|
UTSW |
3 |
40,683,359 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9164:Intu
|
UTSW |
3 |
40,690,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9191:Intu
|
UTSW |
3 |
40,692,511 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9547:Intu
|
UTSW |
3 |
40,654,106 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Intu
|
UTSW |
3 |
40,697,516 (GRCm38) |
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