Incidental Mutation 'R7978:Intu'
| ID |
651014 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
R7978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40697639 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 842
(I842N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091186
AA Change: I842N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: I842N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,888,668 (GRCm38) |
I342N |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,472,073 (GRCm38) |
N453I |
possibly damaging |
Het |
| Aox4 |
C |
A |
1: 58,235,207 (GRCm38) |
S384Y |
probably damaging |
Het |
| Ap1g1 |
C |
T |
8: 109,837,767 (GRCm38) |
R315* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,974,863 (GRCm38) |
Y741H |
probably damaging |
Het |
| Cacna2d2 |
C |
G |
9: 107,518,257 (GRCm38) |
L661V |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,567,713 (GRCm38) |
H64Q |
probably damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,499,231 (GRCm38) |
N582K |
possibly damaging |
Het |
| Cdh7 |
A |
G |
1: 109,994,105 (GRCm38) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 134,236,031 (GRCm38) |
N78D |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 105,007,991 (GRCm38) |
V132A |
probably damaging |
Het |
| Cwc25 |
G |
A |
11: 97,753,218 (GRCm38) |
Q230* |
probably null |
Het |
| Dsel |
G |
A |
1: 111,859,719 (GRCm38) |
R1029* |
probably null |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,178,361 (GRCm38) |
|
probably benign |
Het |
| Fam120a |
T |
C |
13: 48,902,274 (GRCm38) |
Y646C |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,092,804 (GRCm38) |
W576R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,389,347 (GRCm38) |
N1787S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,920,352 (GRCm38) |
E904G |
probably benign |
Het |
| Igkv17-121 |
C |
T |
6: 68,036,822 (GRCm38) |
T2I |
unknown |
Het |
| Ino80 |
T |
G |
2: 119,439,393 (GRCm38) |
R590S |
possibly damaging |
Het |
| Itgae |
A |
T |
11: 73,134,087 (GRCm38) |
T1015S |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,411,205 (GRCm38) |
|
probably null |
Het |
| Kcna10 |
A |
G |
3: 107,194,347 (GRCm38) |
E98G |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,710,613 (GRCm38) |
Y570N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,359,678 (GRCm38) |
I923V |
probably benign |
Het |
| Kptn |
A |
G |
7: 16,125,772 (GRCm38) |
D307G |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,253,114 (GRCm38) |
Y704H |
probably damaging |
Het |
| Olfr103 |
A |
G |
17: 37,336,501 (GRCm38) |
F244L |
probably benign |
Het |
| Olfr1186 |
T |
A |
2: 88,525,670 (GRCm38) |
L29* |
probably null |
Het |
| Olfr1312 |
T |
C |
2: 112,042,178 (GRCm38) |
T285A |
possibly damaging |
Het |
| Olfr48 |
A |
T |
2: 89,844,267 (GRCm38) |
C235* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,715,950 (GRCm38) |
V218M |
probably damaging |
Het |
| Prkar2b |
T |
C |
12: 31,963,025 (GRCm38) |
H364R |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,404,855 (GRCm38) |
F809S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,251,268 (GRCm38) |
S59P |
|
Het |
| Rgr |
A |
G |
14: 37,044,688 (GRCm38) |
F134L |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 94,623,125 (GRCm38) |
R47L |
probably damaging |
Het |
| Scd3 |
G |
T |
19: 44,234,249 (GRCm38) |
E113* |
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,536,908 (GRCm38) |
A476V |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 118,193,655 (GRCm38) |
E560G |
unknown |
Het |
| Snx3 |
A |
G |
10: 42,502,350 (GRCm38) |
D7G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,660,334 (GRCm38) |
|
probably benign |
Het |
| Tbc1d12 |
A |
G |
19: 38,916,841 (GRCm38) |
M667V |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,306,199 (GRCm38) |
V81E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,239,954 (GRCm38) |
I395F |
probably damaging |
Het |
| Tes |
C |
A |
6: 17,096,323 (GRCm38) |
N103K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,487,665 (GRCm38) |
Y336C |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,139,860 (GRCm38) |
N491S |
probably damaging |
Het |
| Tomt |
T |
C |
7: 101,900,347 (GRCm38) |
I245V |
probably damaging |
Het |
| Trbc1 |
T |
C |
6: 41,538,302 (GRCm38) |
L28P |
|
Het |
| Trp63 |
T |
C |
16: 25,820,686 (GRCm38) |
V208A |
unknown |
Het |
| Ttll8 |
G |
T |
15: 88,915,362 (GRCm38) |
N625K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,399,938 (GRCm38) |
W786R |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,947,592 (GRCm38) |
I703F |
probably 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 |
|
R6451:Intu
|
UTSW |
3 |
40,701,293 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- TCCATCCATAGCTGGCACTG -3'
(R):5'- AGCCCAGATTGAAACAGTATCC -3'
Sequencing Primer
(F):5'- CCTAACGTGTGCTTTAGCTAAG -3'
(R):5'- TGGCTAGCTGATATTATAAACTACCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation