Incidental Mutation 'R7344:Scrib'
ID |
570114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scrib
|
Ensembl Gene |
ENSMUSG00000022568 |
Gene Name |
scribbled planar cell polarity |
Synonyms |
Scrb1, Crc |
MMRRC Submission |
045434-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7344 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75921107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1332
(Y1332C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002603]
[ENSMUST00000063747]
[ENSMUST00000109946]
[ENSMUST00000145830]
[ENSMUST00000148211]
[ENSMUST00000187868]
|
AlphaFold |
Q80U72 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002603
AA Change: Y1332C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002603 Gene: ENSMUSG00000022568 AA Change: Y1332C
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: Y1304C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068056 Gene: ENSMUSG00000022568 AA Change: Y1304C
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: Y1304C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105572 Gene: ENSMUSG00000022568 AA Change: Y1304C
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 |
probably damaging
Transcript: ENSMUST00000145830
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115329 Gene: ENSMUSG00000022568 AA Change: Y44C
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148211
AA Change: Y72C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114573 Gene: ENSMUSG00000022568 AA Change: Y72C
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187868
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
A |
C |
11: 58,182,273 (GRCm39) |
Y216S |
|
Het |
Anpep |
G |
T |
7: 79,488,398 (GRCm39) |
S477R |
possibly damaging |
Het |
Atp7b |
T |
C |
8: 22,487,515 (GRCm39) |
D1293G |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,774,565 (GRCm39) |
V249A |
probably benign |
Het |
Cep41 |
C |
T |
6: 30,693,655 (GRCm39) |
R5K |
probably benign |
Het |
Cyp2c23 |
A |
T |
19: 44,010,176 (GRCm39) |
|
probably null |
Het |
Dazap2 |
T |
A |
15: 100,514,824 (GRCm39) |
V15E |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,824,770 (GRCm39) |
D1070E |
probably benign |
Het |
Epha8 |
T |
A |
4: 136,661,849 (GRCm39) |
H582L |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,643,074 (GRCm39) |
T1513A |
possibly damaging |
Het |
Fancd2 |
T |
C |
6: 113,545,670 (GRCm39) |
V901A |
probably benign |
Het |
Fbl |
T |
A |
7: 27,878,360 (GRCm39) |
V284E |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
Fbxw16 |
A |
G |
9: 109,278,103 (GRCm39) |
V25A |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,852,185 (GRCm39) |
T1236I |
possibly damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,839,704 (GRCm39) |
S506P |
possibly damaging |
Het |
Gm11562 |
T |
G |
11: 99,511,195 (GRCm39) |
T2P |
unknown |
Het |
Gm17728 |
G |
T |
17: 9,640,955 (GRCm39) |
G22W |
probably damaging |
Het |
Gm30083 |
A |
G |
14: 33,721,537 (GRCm39) |
Y190H |
probably benign |
Het |
Gm6793 |
T |
A |
8: 112,741,561 (GRCm39) |
D27V |
probably damaging |
Het |
Gm7324 |
A |
G |
14: 43,952,134 (GRCm39) |
D259G |
probably benign |
Het |
Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
Ildr2 |
T |
A |
1: 166,122,166 (GRCm39) |
V203E |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
Irx5 |
A |
G |
8: 93,086,183 (GRCm39) |
T89A |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,776,798 (GRCm39) |
N221S |
possibly damaging |
Het |
Lpcat2 |
T |
C |
8: 93,602,195 (GRCm39) |
W259R |
probably damaging |
Het |
Lrrc8e |
C |
T |
8: 4,284,815 (GRCm39) |
R347C |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,881,140 (GRCm39) |
D2790E |
probably benign |
Het |
Magi2 |
G |
A |
5: 20,755,238 (GRCm39) |
R604Q |
probably benign |
Het |
Mertk |
C |
A |
2: 128,613,417 (GRCm39) |
H478N |
probably benign |
Het |
Mical3 |
T |
A |
6: 121,013,505 (GRCm39) |
K293* |
probably null |
Het |
Nod2 |
T |
C |
8: 89,387,210 (GRCm39) |
L168P |
probably damaging |
Het |
Npnt |
T |
C |
3: 132,614,100 (GRCm39) |
|
probably null |
Het |
Or1x6 |
T |
G |
11: 50,939,122 (GRCm39) |
F63V |
probably damaging |
Het |
Or5af1 |
A |
T |
11: 58,722,308 (GRCm39) |
E109D |
probably damaging |
Het |
Or8b37 |
T |
C |
9: 37,959,253 (GRCm39) |
M245T |
probably benign |
Het |
Or9g4 |
A |
T |
2: 85,505,275 (GRCm39) |
Y73* |
probably null |
Het |
Plcd4 |
A |
T |
1: 74,593,811 (GRCm39) |
D312V |
probably damaging |
Het |
Prss58 |
A |
G |
6: 40,872,399 (GRCm39) |
I208T |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,438,498 (GRCm39) |
S116P |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,205,276 (GRCm39) |
I93N |
probably benign |
Het |
Rftn2 |
A |
C |
1: 55,265,311 (GRCm39) |
Y36* |
probably null |
Het |
Rp1l1 |
G |
A |
14: 64,267,069 (GRCm39) |
R885Q |
probably benign |
Het |
Rpgrip1 |
A |
T |
14: 52,378,116 (GRCm39) |
D488V |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,444,893 (GRCm39) |
Y2313C |
possibly damaging |
Het |
Serpinb10 |
T |
C |
1: 107,468,672 (GRCm39) |
V105A |
probably damaging |
Het |
Slc35d1 |
A |
T |
4: 103,070,243 (GRCm39) |
|
probably null |
Het |
Slfn3 |
T |
C |
11: 83,103,648 (GRCm39) |
V173A |
probably benign |
Het |
Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
Stard9 |
A |
T |
2: 120,535,167 (GRCm39) |
D3808V |
possibly damaging |
Het |
Supt16 |
A |
T |
14: 52,411,028 (GRCm39) |
V692D |
probably damaging |
Het |
Tapt1 |
A |
T |
5: 44,345,999 (GRCm39) |
V317E |
probably damaging |
Het |
Vmn2r101 |
T |
C |
17: 19,832,059 (GRCm39) |
I685T |
probably benign |
Het |
Vmn2r92 |
A |
G |
17: 18,387,513 (GRCm39) |
I173V |
probably benign |
Het |
Vps54 |
T |
C |
11: 21,224,999 (GRCm39) |
I165T |
probably damaging |
Het |
Zswim4 |
G |
A |
8: 84,950,327 (GRCm39) |
R628* |
probably null |
Het |
Zzz3 |
T |
C |
3: 152,157,736 (GRCm39) |
S770P |
probably 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 |
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 |
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'- CGAAGTACTTTTGTCGTTCACG -3'
(R):5'- TGGAACAGTTGCTTCCAGAG -3'
Sequencing Primer
(F):5'- TCGTTCACGGAAGGACAGCTG -3'
(R):5'- CTTCCAGAGCAGGATGGGG -3'
|
Posted On |
2019-09-13 |