Incidental Mutation 'R7633:Intu'
| ID |
589744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40585559-40659206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40608683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 232
(G232S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061590]
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061590
AA Change: G214S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054313
Gene: ENSMUSG00000060798
AA Change: G214S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
134 |
214 |
2e-25 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091186
AA Change: G232S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: G232S
| 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 |
|
| Meta Mutation Damage Score |
0.6134 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,263,465 (GRCm39) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,784,446 (GRCm39) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,829,171 (GRCm39) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,948,373 (GRCm39) |
|
probably null |
Het |
| Calhm4 |
G |
A |
10: 33,919,904 (GRCm39) |
T121M |
possibly damaging |
Het |
| Cd46 |
A |
T |
1: 194,765,927 (GRCm39) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,391,226 (GRCm39) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,683,699 (GRCm39) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,748,371 (GRCm39) |
T392M |
probably benign |
Het |
| Cracd |
A |
G |
5: 77,005,367 (GRCm39) |
E576G |
unknown |
Het |
| Dcxr |
A |
C |
11: 120,617,279 (GRCm39) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,166,478 (GRCm39) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,107,263 (GRCm39) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,705,792 (GRCm39) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,693 (GRCm39) |
D521G |
probably damaging |
Het |
| Gm6882 |
A |
G |
7: 21,161,577 (GRCm39) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,365,128 (GRCm39) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,296,662 (GRCm39) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,318,383 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,161,757 (GRCm39) |
N377S |
probably benign |
Het |
| Lypd9 |
C |
A |
11: 58,338,304 (GRCm39) |
M29I |
probably benign |
Het |
| Mov10 |
A |
G |
3: 104,704,381 (GRCm39) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,331 (GRCm39) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,596 (GRCm39) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,138,937 (GRCm39) |
S3W |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,237,967 (GRCm39) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,846,977 (GRCm39) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,106,173 (GRCm39) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,810,999 (GRCm39) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,347,455 (GRCm39) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,124,215 (GRCm39) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,841,337 (GRCm39) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 90,953,904 (GRCm39) |
|
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,317,161 (GRCm39) |
R7S |
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,091,481 (GRCm39) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 59,962,002 (GRCm39) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,552,008 (GRCm39) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,434,556 (GRCm39) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,736,500 (GRCm39) |
T482I |
probably damaging |
Het |
| Tcstv7b |
G |
A |
13: 120,702,376 (GRCm39) |
W57* |
probably null |
Het |
| Tmc6 |
G |
T |
11: 117,660,046 (GRCm39) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 68,945,259 (GRCm39) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,481,832 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,432,644 (GRCm39) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,354 (GRCm39) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,448 (GRCm39) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,074,513 (GRCm39) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,176,193 (GRCm39) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,118,823 (GRCm39) |
F240L |
possibly 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 |
|
|
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'- GTACAAGGATGTGACCGTCTAC -3'
(R):5'- CAGTCTGAACTAGCGGCATG -3'
Sequencing Primer
(F):5'- GGATGTGACCGTCTACATCAAC -3'
(R):5'- TCTGAACTAGCGGCATGTGTCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation