Incidental Mutation 'R7625:Intu'
| ID |
589369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik |
| MMRRC Submission |
045719-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40697599 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 829
(S829P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091186
AA Change: S829P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: S829P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,046,955 (GRCm38) |
V506E |
probably damaging |
Het |
| Acaa2 |
G |
T |
18: 74,804,142 (GRCm38) |
V366F |
possibly damaging |
Het |
| Ago1 |
G |
A |
4: 126,443,229 (GRCm38) |
R532C |
probably benign |
Het |
| Ank2 |
T |
G |
3: 127,052,800 (GRCm38) |
D182A |
probably damaging |
Het |
| Anxa4 |
T |
C |
6: 86,737,819 (GRCm38) |
D302G |
probably damaging |
Het |
| Apoa4 |
A |
T |
9: 46,243,112 (GRCm38) |
E337V |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,254,277 (GRCm38) |
|
probably null |
Het |
| Atp8b3 |
A |
C |
10: 80,520,146 (GRCm38) |
V1244G |
probably benign |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,321,318 (GRCm38) |
|
probably benign |
Het |
| Camk2a |
G |
A |
18: 60,952,340 (GRCm38) |
V132M |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,848,052 (GRCm38) |
Y247N |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,237,077 (GRCm38) |
P166S |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,729,125 (GRCm38) |
S1140R |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,437,418 (GRCm38) |
S783* |
probably null |
Het |
| Col6a1 |
A |
G |
10: 76,713,926 (GRCm38) |
S562P |
unknown |
Het |
| Cpb2 |
G |
A |
14: 75,272,549 (GRCm38) |
V250M |
possibly damaging |
Het |
| Cyp2c38 |
T |
A |
19: 39,462,924 (GRCm38) |
Q44L |
possibly damaging |
Het |
| Dgat1 |
T |
C |
15: 76,503,195 (GRCm38) |
M325V |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,196,642 (GRCm38) |
M118L |
probably benign |
Het |
| Dpy19l3 |
T |
A |
7: 35,752,681 (GRCm38) |
I13L |
probably benign |
Het |
| Enkd1 |
A |
G |
8: 105,704,633 (GRCm38) |
|
probably null |
Het |
| Fam241b |
A |
G |
10: 62,134,700 (GRCm38) |
|
probably benign |
Het |
| Fhit |
T |
A |
14: 9,870,177 (GRCm38) |
|
probably null |
Het |
| Gp6 |
T |
C |
7: 4,370,174 (GRCm38) |
E250G |
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 149,050,340 (GRCm38) |
E84G |
probably benign |
Het |
| Hscb |
T |
A |
5: 110,829,146 (GRCm38) |
I227F |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,564,938 (GRCm38) |
L4047Q |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,618,436 (GRCm38) |
L775P |
probably benign |
Het |
| Hydin |
A |
T |
8: 110,541,844 (GRCm38) |
S2947C |
probably benign |
Het |
| Kcnn3 |
C |
A |
3: 89,609,670 (GRCm38) |
T462K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,938,017 (GRCm38) |
C1622Y |
possibly damaging |
Het |
| Lifr |
T |
C |
15: 7,169,242 (GRCm38) |
Y318H |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,542,709 (GRCm38) |
S332P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,276,613 (GRCm38) |
I489T |
possibly damaging |
Het |
| Mmp8 |
A |
T |
9: 7,566,217 (GRCm38) |
Q358L |
probably benign |
Het |
| Ms4a4a |
T |
A |
19: 11,390,364 (GRCm38) |
|
probably null |
Het |
| Nav1 |
G |
C |
1: 135,467,745 (GRCm38) |
S962C |
probably damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,819,445 (GRCm38) |
R653C |
probably damaging |
Het |
| Nherf4 |
A |
T |
9: 44,250,297 (GRCm38) |
I95N |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 88,665,278 (GRCm38) |
I738F |
probably damaging |
Het |
| Nrf1 |
G |
A |
6: 30,116,231 (GRCm38) |
V301I |
probably benign |
Het |
| Oog1 |
T |
C |
12: 87,608,312 (GRCm38) |
F410S |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,639,958 (GRCm38) |
Y61H |
probably damaging |
Het |
| Or6k4 |
G |
A |
1: 174,137,167 (GRCm38) |
C141Y |
probably benign |
Het |
| Pcdhga8 |
G |
A |
18: 37,726,901 (GRCm38) |
V337I |
probably benign |
Het |
| Pelp1 |
G |
T |
11: 70,395,434 (GRCm38) |
N572K |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,267,877 (GRCm38) |
V1808A |
possibly damaging |
Het |
| Pirt |
A |
C |
11: 66,925,943 (GRCm38) |
S27R |
probably damaging |
Het |
| Pramel20 |
A |
T |
4: 143,572,251 (GRCm38) |
I255L |
probably benign |
Het |
| Rgs17 |
A |
T |
10: 5,841,488 (GRCm38) |
D96E |
probably benign |
Het |
| Senp1 |
A |
G |
15: 98,066,798 (GRCm38) |
F206L |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,372,722 (GRCm38) |
S584T |
probably benign |
Het |
| Tex44 |
A |
T |
1: 86,426,737 (GRCm38) |
K123* |
probably null |
Het |
| Tpst2 |
C |
A |
5: 112,308,021 (GRCm38) |
T142K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,285,219 (GRCm38) |
G2040R |
possibly damaging |
Het |
| Uggt2 |
T |
A |
14: 119,026,493 (GRCm38) |
I1042F |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,105,431 (GRCm38) |
S104P |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,855,386 (GRCm38) |
|
probably null |
Het |
| Zeb2 |
G |
A |
2: 45,002,572 (GRCm38) |
A223V |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,254,600 (GRCm38) |
D303G |
probably benign |
Het |
| Zfp566 |
A |
G |
7: 30,078,505 (GRCm38) |
S84P |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,201,755 (GRCm38) |
H71L |
possibly 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 |
|
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'- AACCTAACGTGTGCTTTAGCTAAG -3'
(R):5'- CAGTCCACCATTTCCAGAGG -3'
Sequencing Primer
(F):5'- TAAGAACAGGGAATTAAACATTTGGC -3'
(R):5'- TTTCCAGAGGTAAAACTCCAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation