Incidental Mutation 'R5541:Intu'
| ID |
435945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik |
| MMRRC Submission |
043099-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
splice site (63 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 40692587 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091186
AA Change: D630G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: D630G
| 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 |
probably null
Transcript: ENSMUST00000204176
|
| Meta Mutation Damage Score |
0.5143 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009B22Rik |
T |
C |
11: 51,685,969 (GRCm38) |
H34R |
probably benign |
Het |
| 1700113H08Rik |
A |
G |
10: 87,225,946 (GRCm38) |
K86R |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,291,545 (GRCm38) |
V1136A |
probably benign |
Het |
| Als2cr12 |
A |
G |
1: 58,658,429 (GRCm38) |
M384T |
probably benign |
Het |
| Arfgap2 |
G |
A |
2: 91,275,769 (GRCm38) |
R530H |
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,404,139 (GRCm38) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,679,269 (GRCm38) |
R8G |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,791,933 (GRCm38) |
N2949D |
probably benign |
Het |
| Ccdc86 |
T |
C |
19: 10,948,554 (GRCm38) |
E227G |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,875,629 (GRCm38) |
D261G |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,051,504 (GRCm38) |
E2714D |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,502,839 (GRCm38) |
S126R |
probably damaging |
Het |
| Defa17 |
T |
A |
8: 21,656,549 (GRCm38) |
C64S |
probably damaging |
Het |
| Depdc5 |
A |
T |
5: 32,864,629 (GRCm38) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 112,940,374 (GRCm38) |
N259S |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,192,988 (GRCm38) |
L323Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,145,336 (GRCm38) |
Y416C |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,377,632 (GRCm38) |
E105V |
possibly damaging |
Het |
| Fbxw15 |
T |
G |
9: 109,565,430 (GRCm38) |
I106L |
probably benign |
Het |
| Gm10610 |
A |
G |
7: 83,549,406 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr22 |
A |
G |
12: 31,709,349 (GRCm38) |
F258S |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 120,072,718 (GRCm38) |
I618F |
probably damaging |
Het |
| H2afy2 |
T |
C |
10: 61,747,717 (GRCm38) |
I215V |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,520,551 (GRCm38) |
T1233I |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,542,825 (GRCm38) |
Q2365K |
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,079,196 (GRCm38) |
M714T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,968,113 (GRCm38) |
M924T |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,379,234 (GRCm38) |
M636L |
probably benign |
Het |
| Klrb1a |
G |
A |
6: 128,609,736 (GRCm38) |
H219Y |
probably benign |
Het |
| March10 |
C |
T |
11: 105,390,131 (GRCm38) |
D443N |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 117,905,394 (GRCm38) |
E578G |
probably damaging |
Het |
| Olfr1502 |
T |
C |
19: 13,861,964 (GRCm38) |
I57T |
probably benign |
Het |
| Olfr887 |
T |
C |
9: 38,085,123 (GRCm38) |
C96R |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 61,639,343 (GRCm38) |
Y34C |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,447,416 (GRCm38) |
V441E |
probably damaging |
Het |
| Pde6g |
A |
T |
11: 120,448,172 (GRCm38) |
I64N |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,796,637 (GRCm38) |
V593M |
probably damaging |
Het |
| Pnn |
T |
G |
12: 59,071,930 (GRCm38) |
V433G |
possibly damaging |
Het |
| Rbak |
G |
A |
5: 143,173,990 (GRCm38) |
S436F |
probably damaging |
Het |
| Rpl11 |
A |
G |
4: 136,052,732 (GRCm38) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 29,086,185 (GRCm38) |
Q1701K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,324,633 (GRCm38) |
T661S |
probably benign |
Het |
| Smg1 |
T |
A |
7: 118,157,163 (GRCm38) |
|
probably benign |
Het |
| St8sia2 |
T |
C |
7: 73,966,900 (GRCm38) |
D109G |
probably benign |
Het |
| Stk-ps1 |
T |
A |
17: 36,398,213 (GRCm38) |
|
noncoding transcript |
Het |
| Stxbp3-ps |
C |
T |
19: 9,557,970 (GRCm38) |
|
noncoding transcript |
Het |
| Taf1d |
T |
A |
9: 15,308,850 (GRCm38) |
F132I |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,214,026 (GRCm38) |
S35G |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,669,523 (GRCm38) |
T198I |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,191,879 (GRCm38) |
V168E |
possibly damaging |
Het |
| Ucma |
A |
G |
2: 4,981,330 (GRCm38) |
R105G |
probably benign |
Het |
| Vmn2r97 |
C |
T |
17: 18,928,355 (GRCm38) |
Q171* |
probably null |
Het |
| Wapl |
T |
C |
14: 34,730,662 (GRCm38) |
|
probably null |
Het |
| Zfand4 |
T |
A |
6: 116,314,295 (GRCm38) |
C397S |
possibly damaging |
Het |
| Zfhx3 |
A |
G |
8: 108,948,951 (GRCm38) |
N2211S |
probably damaging |
Het |
| Zfp143 |
G |
T |
7: 110,070,480 (GRCm38) |
G39C |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 30,022,876 (GRCm38) |
D414E |
possibly damaging |
Het |
| Zfp574 |
C |
T |
7: 25,081,950 (GRCm38) |
A799V |
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 |
|
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 |
|
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'- GATTGAGAGATTTTCAGAACTCACGAG -3'
(R):5'- AAGGTTCTCCTGCATGTTGG -3'
Sequencing Primer
(F):5'- TTTCAGAACTCACGAGTATTTGC -3'
(R):5'- CTGCTGTTTTGGAAGGCCCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation