Incidental Mutation 'R5246:Scrib'
| ID |
401163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scrib
|
| Ensembl Gene |
ENSMUSG00000022568 |
| Gene Name |
scribbled planar cell polarity |
| Synonyms |
Scrb1, Crc |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75936646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 435
(E435G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002603]
[ENSMUST00000063747]
[ENSMUST00000109946]
|
| AlphaFold |
Q80U72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002603
AA Change: E435G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: E435G
| 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: E435G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: E435G
| 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: E435G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: E435G
| 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 |
noncoding transcript
Transcript: ENSMUST00000185092
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCACCTTGAGCTCACTG -3'
(R):5'- ACGGGTGAAAAGGTGCTCAC -3'
Sequencing Primer
(F):5'- ATCACCTTGAGCTCACTGGGATG -3'
(R):5'- GTGCTCACCTGCTACCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation