Incidental Mutation 'R9164:Intu'
| ID |
695897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik |
| MMRRC Submission |
068944-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40585559-40659206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40645133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 508
(D508V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091186
AA Change: D508V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: D508V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,278,157 (GRCm39) |
E3112D |
probably damaging |
Het |
| Abtb2 |
C |
T |
2: 103,541,829 (GRCm39) |
T847I |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,089,173 (GRCm39) |
H48Q |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,486,795 (GRCm39) |
I161T |
possibly damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,204 (GRCm39) |
Y388H |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,041,090 (GRCm39) |
K593* |
probably null |
Het |
| Bicc1 |
G |
A |
10: 70,781,094 (GRCm39) |
T661M |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
A |
2: 90,831,426 (GRCm39) |
L85H |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,852,318 (GRCm39) |
M520K |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,155,960 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Chd1l |
C |
T |
3: 97,501,356 (GRCm39) |
R230H |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,571 (GRCm39) |
K28* |
probably null |
Het |
| D930048N14Rik |
A |
T |
11: 51,545,609 (GRCm39) |
H167L |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,754,337 (GRCm39) |
I442N |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,180,308 (GRCm39) |
C1960R |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,936,324 (GRCm39) |
S2G |
unknown |
Het |
| Gm37240 |
T |
C |
3: 84,417,248 (GRCm39) |
N157S |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,283 (GRCm39) |
I350V |
unknown |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,661 (GRCm39) |
V357A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,106 (GRCm39) |
I377V |
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,660,689 (GRCm39) |
D28G |
probably benign |
Het |
| Kif28 |
A |
T |
1: 179,533,333 (GRCm39) |
M604K |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,993,687 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lhfpl6 |
G |
A |
3: 52,950,887 (GRCm39) |
V54I |
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,262,923 (GRCm39) |
Y38C |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,562,351 (GRCm39) |
Q2453L |
unknown |
Het |
| Map1b |
C |
A |
13: 99,568,816 (GRCm39) |
E1302* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,122,410 (GRCm39) |
R159C |
probably benign |
Het |
| Mov10l1 |
C |
T |
15: 88,896,361 (GRCm39) |
T735I |
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,562,544 (GRCm39) |
R77L |
probably damaging |
Het |
| Nipsnap1 |
T |
C |
11: 4,839,969 (GRCm39) |
V230A |
probably benign |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,954 (GRCm39) |
M277K |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,504 (GRCm39) |
N137I |
possibly damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,809 (GRCm39) |
L39P |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,852 (GRCm39) |
V549E |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,731,699 (GRCm39) |
S274R |
|
Het |
| Phactr1 |
A |
G |
13: 42,836,178 (GRCm39) |
D2G |
possibly damaging |
Het |
| Phtf2 |
G |
A |
5: 21,008,190 (GRCm39) |
R164* |
probably null |
Het |
| Prkcq |
A |
G |
2: 11,231,716 (GRCm39) |
D13G |
probably damaging |
Het |
| Proser1 |
A |
T |
3: 53,379,494 (GRCm39) |
N156I |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,334,958 (GRCm39) |
I171T |
probably damaging |
Het |
| Ptbp2 |
G |
A |
3: 119,546,640 (GRCm39) |
P81S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,404,222 (GRCm39) |
D681G |
possibly damaging |
Het |
| Rigi |
T |
A |
4: 40,208,827 (GRCm39) |
M762L |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,360 (GRCm39) |
I349F |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,235,312 (GRCm39) |
T240K |
possibly damaging |
Het |
| Sowahc |
C |
A |
10: 59,057,897 (GRCm39) |
A11E |
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,216,399 (GRCm39) |
Y526F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,626 (GRCm39) |
H526R |
probably benign |
Het |
| Stx1b |
T |
C |
7: 127,414,159 (GRCm39) |
K69R |
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,920,646 (GRCm39) |
S107P |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,606,975 (GRCm39) |
I273M |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,980,295 (GRCm39) |
Y135* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,583,856 (GRCm39) |
P22384S |
probably damaging |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,087 (GRCm39) |
T610P |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
| Vwf |
T |
A |
6: 125,542,806 (GRCm39) |
I94N |
|
Het |
| Zan |
A |
T |
5: 137,422,333 (GRCm39) |
S2762T |
unknown |
Het |
| Zbtb20 |
A |
G |
16: 43,430,764 (GRCm39) |
Q352R |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,259,374 (GRCm39) |
Y1649H |
probably benign |
Het |
| Zfp397 |
A |
T |
18: 24,089,828 (GRCm39) |
Q111L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,825 (GRCm39) |
I698N |
probably 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 |
|
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 |
|
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'- GCAAATGCTGTGTGTTCTACTATG -3'
(R):5'- ACAGTCTTGCCTGCAAAGTG -3'
Sequencing Primer
(F):5'- TTCTACTATGTTGTGGGACCAC -3'
(R):5'- GCCTGCAAAGTGGCAATATTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation