Incidental Mutation 'R5628:Scrib'
ID |
501346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scrib
|
Ensembl Gene |
ENSMUSG00000022568 |
Gene Name |
scribbled planar cell polarity |
Synonyms |
Scrb1, Crc |
MMRRC Submission |
043167-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5628 (G1)
|
Quality Score |
194 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75921389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 30
(T30A)
|
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: T1290A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000002603 Gene: ENSMUSG00000022568 AA Change: T1290A
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
|
SMART Domains |
Protein: ENSMUSP00000068056 Gene: ENSMUSG00000022568
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
|
SMART Domains |
Protein: ENSMUSP00000105572 Gene: ENSMUSG00000022568
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 |
possibly damaging
Transcript: ENSMUST00000148211
AA Change: T30A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114573 Gene: ENSMUSG00000022568 AA Change: T30A
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: ENSMUST00000230249
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231218
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230104
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTGGCTGGCAGTTCATCAG -3'
(R):5'- AGTGTGTCCTTGTAGCCTGC -3'
Sequencing Primer
(F):5'- AGCTTTCCCAGTGCAGC -3'
(R):5'- GTAGCCTGCTTGTCTCCAG -3'
|
Posted On |
2017-12-01 |