Incidental Mutation 'IGL01529:Scrib'
| ID |
89671 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scrib
|
| Ensembl Gene |
ENSMUSG00000022568 |
| Gene Name |
scribbled planar cell polarity |
| Synonyms |
Scrb1, Crc |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75921084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 80
(T80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002603]
[ENSMUST00000063747]
[ENSMUST00000109946]
[ENSMUST00000145830]
[ENSMUST00000148211]
[ENSMUST00000187868]
|
| AlphaFold |
Q80U72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002603
AA Change: T1340A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: T1340A
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
58 |
80 |
1.99e0 |
SMART |
|
LRR
|
81 |
104 |
2.54e2 |
SMART |
|
LRR
|
127 |
149 |
3.56e2 |
SMART |
|
LRR
|
150 |
172 |
2.33e1 |
SMART |
|
LRR
|
173 |
195 |
2.45e0 |
SMART |
|
LRR_TYP
|
196 |
218 |
7.78e-3 |
SMART |
|
LRR
|
219 |
241 |
7.79e0 |
SMART |
|
LRR
|
242 |
265 |
1.41e0 |
SMART |
|
LRR
|
288 |
310 |
2.47e2 |
SMART |
|
LRR_TYP
|
311 |
334 |
2.36e-2 |
SMART |
|
LRR
|
335 |
356 |
7.8e1 |
SMART |
|
LRR
|
357 |
380 |
1.22e2 |
SMART |
|
low complexity region
|
455 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
685 |
N/A |
INTRINSIC |
|
PDZ
|
722 |
801 |
2e-23 |
SMART |
|
low complexity region
|
822 |
837 |
N/A |
INTRINSIC |
|
PDZ
|
856 |
936 |
1.23e-23 |
SMART |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
978 |
N/A |
INTRINSIC |
|
PDZ
|
998 |
1079 |
6.7e-25 |
SMART |
|
PDZ
|
1095 |
1178 |
3.88e-21 |
SMART |
|
low complexity region
|
1306 |
1321 |
N/A |
INTRINSIC |
|
coiled coil region
|
1390 |
1420 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1464 |
N/A |
INTRINSIC |
|
low complexity region
|
1498 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1549 |
1560 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1665 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063747
AA Change: T1312A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: T1312A
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
58 |
80 |
1.99e0 |
SMART |
|
LRR
|
81 |
104 |
2.54e2 |
SMART |
|
LRR
|
127 |
149 |
3.56e2 |
SMART |
|
LRR
|
150 |
172 |
2.33e1 |
SMART |
|
LRR
|
173 |
195 |
2.45e0 |
SMART |
|
LRR_TYP
|
196 |
218 |
7.78e-3 |
SMART |
|
LRR
|
219 |
241 |
7.79e0 |
SMART |
|
LRR
|
242 |
265 |
1.41e0 |
SMART |
|
LRR
|
288 |
310 |
2.47e2 |
SMART |
|
LRR_TYP
|
311 |
334 |
2.36e-2 |
SMART |
|
LRR
|
335 |
356 |
7.8e1 |
SMART |
|
LRR
|
357 |
380 |
1.22e2 |
SMART |
|
low complexity region
|
455 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
685 |
N/A |
INTRINSIC |
|
PDZ
|
722 |
801 |
2e-23 |
SMART |
|
low complexity region
|
822 |
837 |
N/A |
INTRINSIC |
|
PDZ
|
856 |
936 |
1.23e-23 |
SMART |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
978 |
N/A |
INTRINSIC |
|
PDZ
|
998 |
1079 |
6.7e-25 |
SMART |
|
PDZ
|
1095 |
1178 |
3.88e-21 |
SMART |
|
low complexity region
|
1282 |
1293 |
N/A |
INTRINSIC |
|
coiled coil region
|
1362 |
1392 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1532 |
N/A |
INTRINSIC |
|
low complexity region
|
1595 |
1612 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109946
AA Change: T1312A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: T1312A
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
58 |
80 |
1.99e0 |
SMART |
|
LRR
|
81 |
104 |
2.54e2 |
SMART |
|
LRR
|
127 |
149 |
3.56e2 |
SMART |
|
LRR
|
150 |
172 |
2.33e1 |
SMART |
|
LRR
|
173 |
195 |
2.45e0 |
SMART |
|
LRR_TYP
|
196 |
218 |
7.78e-3 |
SMART |
|
LRR
|
219 |
241 |
7.79e0 |
SMART |
|
LRR
|
242 |
265 |
1.41e0 |
SMART |
|
LRR
|
288 |
310 |
2.47e2 |
SMART |
|
LRR_TYP
|
311 |
334 |
2.36e-2 |
SMART |
|
LRR
|
335 |
356 |
7.8e1 |
SMART |
|
LRR
|
357 |
380 |
1.22e2 |
SMART |
|
low complexity region
|
455 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
511 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
685 |
N/A |
INTRINSIC |
|
PDZ
|
722 |
801 |
2e-23 |
SMART |
|
low complexity region
|
822 |
837 |
N/A |
INTRINSIC |
|
PDZ
|
856 |
936 |
1.23e-23 |
SMART |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
978 |
N/A |
INTRINSIC |
|
PDZ
|
998 |
1079 |
6.7e-25 |
SMART |
|
PDZ
|
1095 |
1178 |
3.88e-21 |
SMART |
|
low complexity region
|
1282 |
1293 |
N/A |
INTRINSIC |
|
coiled coil region
|
1362 |
1392 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1532 |
N/A |
INTRINSIC |
|
low complexity region
|
1620 |
1637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136390
|
| SMART Domains |
Protein: ENSMUSP00000119097
Gene: ENSMUSG00000022568
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
27 |
106 |
2e-23 |
SMART |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
PDZ
|
161 |
241 |
1.23e-23 |
SMART |
|
low complexity region
|
246 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
PDZ
|
303 |
384 |
6.7e-25 |
SMART |
|
PDZ
|
400 |
483 |
3.88e-21 |
SMART |
|
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
|
coiled coil region
|
694 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145830
AA Change: T52A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000115329
Gene: ENSMUSG00000022568
AA Change: T52A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148211
AA Change: T80A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114573
Gene: ENSMUSG00000022568
AA Change: T80A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229940
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele display partial prenatal lethality. Mice homozygous for spontaneous or induced alleles exhibit craniofacial or neural tube defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,622 (GRCm39) |
I144N |
possibly damaging |
Het |
| Adamts19 |
T |
A |
18: 59,096,535 (GRCm39) |
H588Q |
probably damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,349 (GRCm39) |
K46E |
probably damaging |
Het |
| Arhgap10 |
A |
C |
8: 78,072,920 (GRCm39) |
L513V |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,901,351 (GRCm39) |
R817L |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,650,712 (GRCm39) |
N900K |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,887,826 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,398,042 (GRCm39) |
N773D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,750,981 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
| Dolk |
T |
C |
2: 30,175,749 (GRCm39) |
T99A |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,813,014 (GRCm39) |
R165W |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,172,982 (GRCm39) |
D2577V |
probably damaging |
Het |
| Hsph1 |
T |
C |
5: 149,559,499 (GRCm39) |
I15V |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,747,693 (GRCm39) |
T276A |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,897 (GRCm39) |
Y954C |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,602,735 (GRCm39) |
W118R |
probably damaging |
Het |
| Kcnh6 |
G |
T |
11: 105,911,522 (GRCm39) |
R636L |
probably benign |
Het |
| Klk1b16 |
G |
T |
7: 43,790,163 (GRCm39) |
K144N |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,516 (GRCm39) |
L2435I |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,797,867 (GRCm39) |
D502G |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,178,359 (GRCm39) |
N1623K |
probably benign |
Het |
| Mcm10 |
C |
A |
2: 5,013,439 (GRCm39) |
E64D |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,880,400 (GRCm39) |
N1164S |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,556,529 (GRCm39) |
N1025D |
probably benign |
Het |
| Or2m12 |
A |
T |
16: 19,105,450 (GRCm39) |
D14E |
probably benign |
Het |
| Or8g27 |
C |
T |
9: 39,129,427 (GRCm39) |
T258I |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,098,068 (GRCm39) |
N785D |
probably benign |
Het |
| Psmd8 |
A |
T |
7: 28,878,576 (GRCm39) |
I81N |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,225,685 (GRCm39) |
H194Y |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,774,652 (GRCm39) |
G2330R |
probably damaging |
Het |
| Sergef |
A |
T |
7: 46,092,942 (GRCm39) |
W356R |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,660,300 (GRCm39) |
N370S |
probably damaging |
Het |
| Syde1 |
A |
G |
10: 78,426,015 (GRCm39) |
S51P |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,215,233 (GRCm39) |
D1019V |
possibly damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,493 (GRCm39) |
M265T |
probably benign |
Het |
|
| Other mutations in Scrib |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Scrib
|
APN |
15 |
75,920,643 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00905:Scrib
|
APN |
15 |
75,936,839 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01896:Scrib
|
APN |
15 |
75,937,967 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01947:Scrib
|
APN |
15 |
75,933,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02219:Scrib
|
APN |
15 |
75,936,885 (GRCm39) |
nonsense |
probably null |
|
|
IGL02372:Scrib
|
APN |
15 |
75,920,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02880:Scrib
|
APN |
15 |
75,937,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Scrib
|
APN |
15 |
75,937,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0605:Scrib
|
UTSW |
15 |
75,939,402 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0711:Scrib
|
UTSW |
15 |
75,938,756 (GRCm39) |
unclassified |
probably benign |
|
|
R0757:Scrib
|
UTSW |
15 |
75,934,599 (GRCm39) |
small deletion |
probably benign |
|
|
R0903:Scrib
|
UTSW |
15 |
75,938,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0959:Scrib
|
UTSW |
15 |
75,923,310 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1483:Scrib
|
UTSW |
15 |
75,929,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Scrib
|
UTSW |
15 |
75,937,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Scrib
|
UTSW |
15 |
75,920,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1613:Scrib
|
UTSW |
15 |
75,920,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1615:Scrib
|
UTSW |
15 |
75,938,054 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1681:Scrib
|
UTSW |
15 |
75,936,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Scrib
|
UTSW |
15 |
75,941,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3112:Scrib
|
UTSW |
15 |
75,941,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4050:Scrib
|
UTSW |
15 |
75,923,322 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4660:Scrib
|
UTSW |
15 |
75,937,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4976:Scrib
|
UTSW |
15 |
75,923,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5119:Scrib
|
UTSW |
15 |
75,923,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5243:Scrib
|
UTSW |
15 |
75,937,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5246:Scrib
|
UTSW |
15 |
75,936,646 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5483:Scrib
|
UTSW |
15 |
75,939,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5516:Scrib
|
UTSW |
15 |
75,934,712 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5628:Scrib
|
UTSW |
15 |
75,921,389 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5787:Scrib
|
UTSW |
15 |
75,931,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Scrib
|
UTSW |
15 |
75,939,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6005:Scrib
|
UTSW |
15 |
75,929,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Scrib
|
UTSW |
15 |
75,939,021 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6351:Scrib
|
UTSW |
15 |
75,936,835 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6603:Scrib
|
UTSW |
15 |
75,934,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7298:Scrib
|
UTSW |
15 |
75,936,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Scrib
|
UTSW |
15 |
75,921,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Scrib
|
UTSW |
15 |
75,933,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Scrib
|
UTSW |
15 |
75,929,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Scrib
|
UTSW |
15 |
75,919,242 (GRCm39) |
makesense |
probably null |
|
|
R7994:Scrib
|
UTSW |
15 |
75,936,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Scrib
|
UTSW |
15 |
75,937,940 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8096:Scrib
|
UTSW |
15 |
75,934,558 (GRCm39) |
missense |
probably benign |
|
|
R8157:Scrib
|
UTSW |
15 |
75,931,037 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8217:Scrib
|
UTSW |
15 |
75,939,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8693:Scrib
|
UTSW |
15 |
75,936,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8731:Scrib
|
UTSW |
15 |
75,935,488 (GRCm39) |
missense |
probably benign |
|
|
R8922:Scrib
|
UTSW |
15 |
75,933,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9163:Scrib
|
UTSW |
15 |
75,921,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Scrib
|
UTSW |
15 |
75,939,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Scrib
|
UTSW |
15 |
75,932,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Scrib
|
UTSW |
15 |
75,920,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Scrib
|
UTSW |
15 |
75,929,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation