Incidental Mutation 'R8332:Intu'
| ID |
644417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik |
| MMRRC Submission |
067728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40675289 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 350
(I350V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091186
AA Change: I350V
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: I350V
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930412O13Rik |
G |
A |
2: 9,882,839 (GRCm38) |
R17H |
unknown |
Het |
| 8030411F24Rik |
A |
G |
2: 148,783,457 (GRCm38) |
K104E |
probably damaging |
Het |
| Abca14 |
A |
G |
7: 120,216,213 (GRCm38) |
D228G |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,445,343 (GRCm38) |
R4175H |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 133,063,971 (GRCm38) |
D841G |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,620,579 (GRCm38) |
V796I |
probably benign |
Het |
| Angptl8 |
A |
T |
9: 21,836,841 (GRCm38) |
|
probably null |
Het |
| Arhgap23 |
A |
T |
11: 97,491,134 (GRCm38) |
S61T |
unknown |
Het |
| Bcl9 |
C |
T |
3: 97,209,770 (GRCm38) |
G536D |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,846,230 (GRCm38) |
D220G |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 119,645,978 (GRCm38) |
C58* |
probably null |
Het |
| Ccr8 |
A |
T |
9: 120,094,374 (GRCm38) |
Y185F |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,409,015 (GRCm38) |
H408Q |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,126,025 (GRCm38) |
E351G |
probably damaging |
Het |
| Cog5 |
A |
T |
12: 31,833,223 (GRCm38) |
K384* |
probably null |
Het |
| Cpne1 |
T |
C |
2: 156,078,397 (GRCm38) |
T187A |
probably benign |
Het |
| Crat |
T |
A |
2: 30,405,072 (GRCm38) |
I444F |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,237,414 (GRCm38) |
M1052L |
probably damaging |
Het |
| Erp44 |
A |
G |
4: 48,243,475 (GRCm38) |
|
probably null |
Het |
| Flad1 |
G |
T |
3: 89,407,521 (GRCm38) |
Q290K |
probably benign |
Het |
| Gli3 |
G |
T |
13: 15,713,548 (GRCm38) |
R516L |
possibly damaging |
Het |
| Gm19402 |
A |
T |
10: 77,690,214 (GRCm38) |
C182S |
unknown |
Het |
| Herc2 |
T |
C |
7: 56,146,595 (GRCm38) |
I1905T |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 22,665,625 (GRCm38) |
V617D |
possibly damaging |
Het |
| Limd1 |
A |
G |
9: 123,479,254 (GRCm38) |
D6G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,710,384 (GRCm38) |
D716G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,571,936 (GRCm38) |
T1828I |
probably damaging |
Het |
| Olfr521 |
T |
C |
7: 99,768,127 (GRCm38) |
*322Q |
probably null |
Het |
| Olfr768 |
A |
G |
10: 129,093,305 (GRCm38) |
I223T |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,012,786 (GRCm38) |
I2689N |
possibly damaging |
Het |
| Prag1 |
T |
C |
8: 36,146,303 (GRCm38) |
I1003T |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,978,401 (GRCm38) |
D170G |
unknown |
Het |
| Rnf213 |
A |
C |
11: 119,483,698 (GRCm38) |
Q5027P |
|
Het |
| Robo1 |
T |
C |
16: 72,978,578 (GRCm38) |
Y664H |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,798,620 (GRCm38) |
D287E |
possibly damaging |
Het |
| Slc22a16 |
G |
A |
10: 40,573,745 (GRCm38) |
R80Q |
possibly damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,179,821 (GRCm38) |
T706S |
probably benign |
Het |
| Srek1ip1 |
A |
T |
13: 104,834,249 (GRCm38) |
R69S |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,142,181 (GRCm38) |
C119* |
probably null |
Het |
| T2 |
A |
G |
17: 8,390,952 (GRCm38) |
M78V |
probably null |
Het |
| Taok1 |
A |
T |
11: 77,541,719 (GRCm38) |
V756D |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,375,014 (GRCm38) |
G782D |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,679,770 (GRCm38) |
P615L |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,940,709 (GRCm38) |
I217F |
possibly damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,400,253 (GRCm38) |
V691M |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,421,899 (GRCm38) |
Y267C |
probably damaging |
Het |
| Zfp59 |
A |
G |
7: 27,853,546 (GRCm38) |
D141G |
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,723,320 (GRCm38) |
E492G |
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 |
|
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 |
|
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 |
2020-09-02 |
Incidental Mutation