Incidental Mutation 'R1566:Intu'
| ID |
175251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Intu
|
| Ensembl Gene |
ENSMUSG00000060798 |
| Gene Name |
inturned planar cell polarity protein |
| Synonyms |
Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik |
| MMRRC Submission |
039605-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40531286-40704774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40692578 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 627
(I627N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091186]
|
| AlphaFold |
Q059U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091186
AA Change: I627N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: I627N
| 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 benign
Transcript: ENSMUST00000204176
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
A |
11: 109,788,806 (GRCm38) |
I247F |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,755,643 (GRCm38) |
N119S |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,903,480 (GRCm38) |
D721G |
probably benign |
Het |
| Ap3m2 |
C |
T |
8: 22,803,951 (GRCm38) |
V28M |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,782,620 (GRCm38) |
T32A |
possibly damaging |
Het |
| Avl9 |
C |
T |
6: 56,736,482 (GRCm38) |
R242* |
probably null |
Het |
| Bsn |
G |
A |
9: 108,125,985 (GRCm38) |
T407I |
probably benign |
Het |
| Capn3 |
A |
T |
2: 120,502,993 (GRCm38) |
R627S |
possibly damaging |
Het |
| Car13 |
G |
A |
3: 14,650,698 (GRCm38) |
R92Q |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,291,440 (GRCm38) |
I149T |
possibly damaging |
Het |
| Col1a2 |
G |
T |
6: 4,523,613 (GRCm38) |
G514V |
probably damaging |
Het |
| Ctsw |
C |
A |
19: 5,465,417 (GRCm38) |
C347F |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,949,187 (GRCm38) |
R28W |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,471,892 (GRCm38) |
V97D |
probably damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,521,959 (GRCm38) |
E796G |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,834,414 (GRCm38) |
K102R |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,880,870 (GRCm38) |
E618G |
probably damaging |
Het |
| Gm8300 |
A |
T |
12: 87,517,231 (GRCm38) |
H112L |
probably benign |
Het |
| Gmnc |
T |
C |
16: 26,963,939 (GRCm38) |
D22G |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,711,828 (GRCm38) |
D517G |
possibly damaging |
Het |
| Gsta1 |
A |
T |
9: 78,242,459 (GRCm38) |
K185* |
probably null |
Het |
| Ift88 |
A |
G |
14: 57,441,011 (GRCm38) |
D160G |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,736,630 (GRCm38) |
F101L |
probably damaging |
Het |
| Kars |
C |
T |
8: 111,997,658 (GRCm38) |
V475I |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,333,144 (GRCm38) |
R138G |
probably benign |
Het |
| Klra7 |
A |
G |
6: 130,231,601 (GRCm38) |
V6A |
probably damaging |
Het |
| Krtap6-2 |
A |
G |
16: 89,419,738 (GRCm38) |
S114P |
unknown |
Het |
| Ldlrad4 |
T |
C |
18: 68,250,598 (GRCm38) |
S122P |
probably benign |
Het |
| Lig4 |
C |
A |
8: 9,973,650 (GRCm38) |
L43F |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 132,059,179 (GRCm38) |
D137G |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,883,653 (GRCm38) |
R149C |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,136,974 (GRCm38) |
H608L |
probably benign |
Het |
| Mrgpra6 |
G |
A |
7: 47,188,904 (GRCm38) |
T182I |
probably benign |
Het |
| Nat8l |
C |
A |
5: 34,000,856 (GRCm38) |
N203K |
probably benign |
Het |
| Nin |
A |
T |
12: 70,054,479 (GRCm38) |
V448E |
probably damaging |
Het |
| Olfr1053 |
G |
A |
2: 86,314,785 (GRCm38) |
T167I |
probably benign |
Het |
| Olfr164 |
T |
A |
16: 19,286,327 (GRCm38) |
M139L |
possibly damaging |
Het |
| Olfr17 |
T |
G |
7: 107,097,552 (GRCm38) |
F29C |
probably damaging |
Het |
| Olfr178 |
T |
A |
16: 58,889,540 (GRCm38) |
I227F |
probably damaging |
Het |
| Pank4 |
T |
C |
4: 154,980,521 (GRCm38) |
L759P |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,290,773 (GRCm38) |
N1152K |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 72,058,959 (GRCm38) |
|
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,572,065 (GRCm38) |
M497T |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,340,688 (GRCm38) |
D1138G |
probably damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,315,427 (GRCm38) |
S59R |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,388,538 (GRCm38) |
S457G |
possibly damaging |
Het |
| Rbm25 |
T |
A |
12: 83,675,054 (GRCm38) |
N671K |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,160,544 (GRCm38) |
K47N |
unknown |
Het |
| Ryr1 |
T |
A |
7: 29,092,175 (GRCm38) |
I1435F |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,081,674 (GRCm38) |
H287L |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,253,494 (GRCm38) |
L120P |
probably damaging |
Het |
| Slc34a1 |
A |
C |
13: 55,412,031 (GRCm38) |
|
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,836,085 (GRCm38) |
F19S |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,453,916 (GRCm38) |
V117A |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,184,706 (GRCm38) |
N359K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,466,870 (GRCm38) |
|
probably null |
Het |
| Stx5a |
T |
A |
19: 8,742,311 (GRCm38) |
D13E |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,176,655 (GRCm38) |
A489V |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,189,546 (GRCm38) |
L253Q |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,769,436 (GRCm38) |
S659P |
probably damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,193,876 (GRCm38) |
D65G |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,225,677 (GRCm38) |
S962N |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,875,558 (GRCm38) |
Y299C |
probably damaging |
Het |
| Upk1a |
A |
G |
7: 30,609,720 (GRCm38) |
V59A |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 80,984,803 (GRCm38) |
T868A |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,876,715 (GRCm38) |
H58Y |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,768,834 (GRCm38) |
S19P |
possibly damaging |
Het |
| Zfp385b |
A |
C |
2: 77,415,913 (GRCm38) |
F257V |
probably benign |
Het |
| Zmym4 |
A |
C |
4: 126,911,147 (GRCm38) |
I188S |
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 |
|
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 |
|
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'- ACATAAGACCTGTCTGAGTGAGGGC -3'
(R):5'- TCCGTACTGCATCTGGGGTAGC -3'
Sequencing Primer
(F):5'- TGAGAGATTTTCAGAACTCACGAG -3'
(R):5'- GTCACTGAAAAAGGTTCTCCTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation