Incidental Mutation 'IGL02372:Scrib'
| ID |
290959 |
| 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 # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75920104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1524
(P1524S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105572
(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: P1552S
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: P1552S
| 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 damaging
Transcript: ENSMUST00000063747
AA Change: P1524S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: P1524S
| 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 damaging
Transcript: ENSMUST00000109946
AA Change: P1524S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: P1524S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115329
Gene: ENSMUSG00000022568
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148211
|
| SMART Domains |
Protein: ENSMUSP00000114573
Gene: ENSMUSG00000022568
| 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: ENSMUST00000229940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230249
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
| Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
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 |
|
IGL01529:Scrib
|
APN |
15 |
75,921,084 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation