Incidental Mutation 'R6245:Intu'
| ID |
505507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik |
| 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 |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40675326 bp (GRCm38)
|
| 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: 110,135,423 (GRCm38) |
I937T |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,688,556 (GRCm38) |
N720K |
probably benign |
Het |
| Akr1c21 |
T |
G |
13: 4,575,232 (GRCm38) |
V54G |
possibly damaging |
Het |
| Alpi |
G |
T |
1: 87,100,834 (GRCm38) |
D111E |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,248,705 (GRCm38) |
T219M |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,396,836 (GRCm38) |
E780V |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,935,568 (GRCm38) |
S244P |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,476,939 (GRCm38) |
W737R |
probably damaging |
Het |
| Chdh |
T |
A |
14: 30,035,305 (GRCm38) |
V395D |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,973,816 (GRCm38) |
D366Y |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,178,418 (GRCm38) |
Y218H |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,928,131 (GRCm38) |
N264I |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,748 (GRCm38) |
L847P |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,571,348 (GRCm38) |
T382P |
possibly damaging |
Het |
| Dcaf8 |
A |
T |
1: 172,165,867 (GRCm38) |
M1L |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,844,982 (GRCm38) |
F52I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,988,667 (GRCm38) |
N32S |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,382,866 (GRCm38) |
S852N |
possibly damaging |
Het |
| Fchsd1 |
A |
T |
18: 37,962,775 (GRCm38) |
L552Q |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,932,331 (GRCm38) |
R143C |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,655,824 (GRCm38) |
M421V |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,920,747 (GRCm38) |
H36P |
probably benign |
Het |
| Gm11639 |
A |
T |
11: 104,785,008 (GRCm38) |
Y1542F |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,120,044 (GRCm38) |
|
probably null |
Het |
| Hspa4 |
C |
T |
11: 53,262,939 (GRCm38) |
E702K |
probably benign |
Het |
| Jaml |
C |
T |
9: 45,097,919 (GRCm38) |
T248I |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,396,867 (GRCm38) |
S176C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,326,137 (GRCm38) |
L140P |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,702,143 (GRCm38) |
K957R |
probably damaging |
Het |
| Klc4 |
T |
A |
17: 46,636,679 (GRCm38) |
I366F |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,488,199 (GRCm38) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,178,104 (GRCm38) |
D151G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 64,710,826 (GRCm38) |
A689E |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,389,244 (GRCm38) |
G81C |
probably damaging |
Het |
| Msmp |
T |
C |
4: 43,583,909 (GRCm38) |
Y48C |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,648,821 (GRCm38) |
N567S |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,354,221 (GRCm38) |
Y748H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,379,875 (GRCm38) |
A192T |
possibly damaging |
Het |
| Or2p2 |
T |
A |
13: 21,072,690 (GRCm38) |
T204S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,514,165 (GRCm38) |
F176I |
possibly damaging |
Het |
| Or5w15 |
G |
C |
2: 87,737,896 (GRCm38) |
Q143E |
possibly damaging |
Het |
| Pcdhb8 |
T |
G |
18: 37,357,169 (GRCm38) |
D633E |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,403,154 (GRCm38) |
V734M |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,259,321 (GRCm38) |
Y21H |
unknown |
Het |
| Ptk2b |
G |
T |
14: 66,163,066 (GRCm38) |
P767T |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,051,990 (GRCm38) |
Y1424H |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,386,184 (GRCm38) |
Q118L |
probably benign |
Het |
| Selenop |
A |
G |
15: 3,274,734 (GRCm38) |
S21G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,352,253 (GRCm38) |
S1132N |
unknown |
Het |
| Slf1 |
A |
G |
13: 77,084,383 (GRCm38) |
L534P |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,085,147 (GRCm38) |
H596L |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,957,108 (GRCm38) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,185,993 (GRCm38) |
I59N |
probably damaging |
Het |
| Tjp3 |
G |
A |
10: 81,277,276 (GRCm38) |
T580I |
probably benign |
Het |
| Tmem154 |
C |
T |
3: 84,684,296 (GRCm38) |
T51M |
possibly damaging |
Het |
| Tmem8b |
G |
A |
4: 43,690,246 (GRCm38) |
V894I |
probably benign |
Het |
| Trbv20 |
A |
T |
6: 41,188,906 (GRCm38) |
L88F |
possibly damaging |
Het |
| Tssk2 |
A |
C |
16: 17,898,948 (GRCm38) |
I72L |
possibly damaging |
Het |
| Tub |
T |
A |
7: 109,027,058 (GRCm38) |
I267N |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,041,567 (GRCm38) |
F434I |
possibly damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,192,734 (GRCm38) |
N471S |
probably damaging |
Het |
| Vmn2r94 |
C |
G |
17: 18,258,123 (GRCm38) |
G121R |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,148,223 (GRCm38) |
S245P |
probably damaging |
Het |
| Zbtb42 |
A |
G |
12: 112,679,535 (GRCm38) |
Y48C |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,304,433 (GRCm38) |
V657A |
possibly damaging |
Het |
| Zfp768 |
A |
T |
7: 127,344,091 (GRCm38) |
C288* |
probably null |
Het |
| Zfp988 |
T |
A |
4: 147,332,013 (GRCm38) |
C301* |
probably null |
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 |
|
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 |
|
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'- TGAAACTCTGACTAAAGCTGAGG -3'
(R):5'- GACCATCCCAGACCTATAGCTG -3'
Sequencing Primer
(F):5'- AGGCTGAAAGGACTCCTATTTTG -3'
(R):5'- GCTGAATTAAAAACACACACTTGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation