Incidental Mutation 'R6245:Intu'
| ID |
505507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik |
| MMRRC Submission |
044403-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40585559-40659206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40629756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 362
(T362K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091186
AA Change: T362K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: T362K
| 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 |
unknown
Transcript: ENSMUST00000204176
AA Change: T85K
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,026,249 (GRCm39) |
I937T |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,836,403 (GRCm39) |
N720K |
probably benign |
Het |
| Akr1c21 |
T |
G |
13: 4,625,231 (GRCm39) |
V54G |
possibly damaging |
Het |
| Alpi |
G |
T |
1: 87,028,556 (GRCm39) |
D111E |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,253,516 (GRCm39) |
T219M |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,373,797 (GRCm39) |
E780V |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,846,864 (GRCm39) |
S244P |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,388,235 (GRCm39) |
W737R |
probably damaging |
Het |
| Chdh |
T |
A |
14: 29,757,262 (GRCm39) |
V395D |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,845,665 (GRCm39) |
D366Y |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,207,902 (GRCm39) |
Y218H |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,770,051 (GRCm39) |
N264I |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,894 (GRCm39) |
L847P |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,428,545 (GRCm39) |
T382P |
possibly damaging |
Het |
| Dcaf8 |
A |
T |
1: 171,993,434 (GRCm39) |
M1L |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,734,994 (GRCm39) |
F52I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,845,864 (GRCm39) |
N32S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,675,834 (GRCm39) |
Y1542F |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,240,063 (GRCm39) |
S852N |
possibly damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,095,828 (GRCm39) |
L552Q |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,563,245 (GRCm39) |
M421V |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,832,043 (GRCm39) |
H36P |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,325,042 (GRCm39) |
|
probably null |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Jaml |
C |
T |
9: 45,009,217 (GRCm39) |
T248I |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,163 (GRCm39) |
S176C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,704 (GRCm39) |
L140P |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,351,891 (GRCm39) |
K957R |
probably damaging |
Het |
| Klc4 |
T |
A |
17: 46,947,605 (GRCm39) |
I366F |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,398 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,449 (GRCm39) |
D151G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,017,821 (GRCm39) |
A689E |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Msmp |
T |
C |
4: 43,583,909 (GRCm39) |
Y48C |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,086 (GRCm39) |
N567S |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,342,653 (GRCm39) |
Y748H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,368,307 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or2p2 |
T |
A |
13: 21,256,860 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,404,992 (GRCm39) |
F176I |
possibly damaging |
Het |
| Or5w15 |
G |
C |
2: 87,568,240 (GRCm39) |
Q143E |
possibly damaging |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,222 (GRCm39) |
D633E |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,207 (GRCm39) |
V734M |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,141,374 (GRCm39) |
Y21H |
unknown |
Het |
| Ptk2b |
G |
T |
14: 66,400,515 (GRCm39) |
P767T |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,051,989 (GRCm39) |
Y1424H |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,534,043 (GRCm39) |
Q118L |
probably benign |
Het |
| Selenop |
A |
G |
15: 3,304,216 (GRCm39) |
S21G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,001,677 (GRCm39) |
S1132N |
unknown |
Het |
| Slf1 |
A |
G |
13: 77,232,502 (GRCm39) |
L534P |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,013 (GRCm39) |
H596L |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,850,901 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,967 (GRCm39) |
I59N |
probably damaging |
Het |
| Tjp3 |
G |
A |
10: 81,113,110 (GRCm39) |
T580I |
probably benign |
Het |
| Tmem154 |
C |
T |
3: 84,591,603 (GRCm39) |
T51M |
possibly damaging |
Het |
| Tmem8b |
G |
A |
4: 43,690,246 (GRCm39) |
V894I |
probably benign |
Het |
| Trbv20 |
A |
T |
6: 41,165,840 (GRCm39) |
L88F |
possibly damaging |
Het |
| Tssk2 |
A |
C |
16: 17,716,812 (GRCm39) |
I72L |
possibly damaging |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,829 (GRCm39) |
F434I |
possibly damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,195,733 (GRCm39) |
N471S |
probably damaging |
Het |
| Vmn2r94 |
C |
G |
17: 18,478,385 (GRCm39) |
G121R |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,055,505 (GRCm39) |
S245P |
probably damaging |
Het |
| Zbtb42 |
A |
G |
12: 112,645,969 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,592 (GRCm39) |
V657A |
possibly damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,263 (GRCm39) |
C288* |
probably null |
Het |
| Zfp988 |
T |
A |
4: 147,416,470 (GRCm39) |
C301* |
probably null |
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 |
|
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'- TGAAACTCTGACTAAAGCTGAGG -3'
(R):5'- GACCATCCCAGACCTATAGCTG -3'
Sequencing Primer
(F):5'- AGGCTGAAAGGACTCCTATTTTG -3'
(R):5'- GCTGAATTAAAAACACACACTTGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation