Incidental Mutation 'IGL02219:Scrib'
ID |
285063 |
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 # |
IGL02219
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 75936885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 383
(K383*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002603]
[ENSMUST00000063747]
[ENSMUST00000109946]
|
AlphaFold |
Q80U72 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002603
AA Change: K383*
|
SMART Domains |
Protein: ENSMUSP00000002603 Gene: ENSMUSG00000022568 AA Change: K383*
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 null
Transcript: ENSMUST00000063747
AA Change: K383*
|
SMART Domains |
Protein: ENSMUSP00000068056 Gene: ENSMUSG00000022568 AA Change: K383*
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 null
Transcript: ENSMUST00000109946
AA Change: K383*
|
SMART Domains |
Protein: ENSMUSP00000105572 Gene: ENSMUSG00000022568 AA Change: K383*
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
A |
T |
1: 192,515,691 (GRCm39) |
|
noncoding transcript |
Het |
Abcb10 |
G |
A |
8: 124,681,166 (GRCm39) |
H677Y |
probably benign |
Het |
Ager |
T |
C |
17: 34,819,094 (GRCm39) |
V314A |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,586,683 (GRCm39) |
M158V |
possibly damaging |
Het |
Atp1a2 |
G |
A |
1: 172,107,298 (GRCm39) |
Q741* |
probably null |
Het |
Atp1a2 |
A |
T |
1: 172,107,285 (GRCm39) |
M745K |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,656 (GRCm39) |
S577P |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Camk2b |
A |
G |
11: 5,926,872 (GRCm39) |
L497P |
possibly damaging |
Het |
Cand2 |
T |
A |
6: 115,780,773 (GRCm39) |
I1219N |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,083,255 (GRCm39) |
Y153N |
probably damaging |
Het |
Cep250 |
T |
G |
2: 155,833,514 (GRCm39) |
V1812G |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,556,643 (GRCm39) |
|
probably benign |
Het |
Ddx43 |
T |
A |
9: 78,324,001 (GRCm39) |
M444K |
probably damaging |
Het |
Dnm1 |
A |
T |
2: 32,213,462 (GRCm39) |
M506K |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,125,145 (GRCm39) |
H352Q |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,854,060 (GRCm39) |
Y1675H |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,808,174 (GRCm39) |
T1498A |
probably benign |
Het |
Gcn1 |
A |
T |
5: 115,751,826 (GRCm39) |
Q2067L |
possibly damaging |
Het |
Get4 |
G |
T |
5: 139,249,384 (GRCm39) |
|
probably null |
Het |
Gm6370 |
G |
A |
5: 146,430,453 (GRCm39) |
A213T |
possibly damaging |
Het |
Gpr135 |
T |
C |
12: 72,117,047 (GRCm39) |
Y240C |
probably damaging |
Het |
Gstm5 |
T |
A |
3: 107,805,347 (GRCm39) |
L145Q |
probably damaging |
Het |
Hoxb3 |
T |
C |
11: 96,236,986 (GRCm39) |
Y355H |
probably damaging |
Het |
Hsf2 |
A |
C |
10: 57,372,370 (GRCm39) |
K108Q |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,577,718 (GRCm39) |
N694S |
probably benign |
Het |
Lrpap1 |
G |
A |
5: 35,253,411 (GRCm39) |
|
probably benign |
Het |
Mapk8ip3 |
T |
C |
17: 25,118,532 (GRCm39) |
T1162A |
probably damaging |
Het |
Mettl14 |
T |
C |
3: 123,168,540 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
T |
C |
7: 47,671,477 (GRCm39) |
Y90C |
probably benign |
Het |
Mybpc3 |
A |
T |
2: 90,951,368 (GRCm39) |
|
probably null |
Het |
Nup88 |
C |
T |
11: 70,860,518 (GRCm39) |
G87D |
probably benign |
Het |
Or5w20 |
A |
G |
2: 87,727,317 (GRCm39) |
Y258C |
possibly damaging |
Het |
Or7d9 |
A |
T |
9: 20,197,756 (GRCm39) |
T254S |
probably benign |
Het |
Or9i1 |
C |
T |
19: 13,839,187 (GRCm39) |
T10M |
probably damaging |
Het |
Pan2 |
G |
A |
10: 128,156,221 (GRCm39) |
E1133K |
probably benign |
Het |
Pcsk2 |
T |
C |
2: 143,635,045 (GRCm39) |
S307P |
probably damaging |
Het |
Pdgfa |
C |
T |
5: 138,971,950 (GRCm39) |
V150I |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,875,022 (GRCm39) |
C83R |
probably damaging |
Het |
Pla2g2c |
A |
G |
4: 138,463,319 (GRCm39) |
Y71C |
probably damaging |
Het |
Pou2f2 |
T |
A |
7: 24,797,107 (GRCm39) |
Q218L |
probably damaging |
Het |
Prl8a9 |
C |
T |
13: 27,743,353 (GRCm39) |
V151I |
possibly damaging |
Het |
Prop1 |
T |
C |
11: 50,842,911 (GRCm39) |
D92G |
probably damaging |
Het |
Rnf13 |
A |
G |
3: 57,703,644 (GRCm39) |
Y116C |
probably damaging |
Het |
Ro60 |
A |
G |
1: 143,637,013 (GRCm39) |
C400R |
possibly damaging |
Het |
Slc44a5 |
T |
C |
3: 153,944,796 (GRCm39) |
Y138H |
possibly damaging |
Het |
Stra6 |
G |
A |
9: 58,047,752 (GRCm39) |
V108M |
probably benign |
Het |
Tspan10 |
G |
T |
11: 120,337,198 (GRCm39) |
A323S |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,495,687 (GRCm39) |
V347D |
probably damaging |
Het |
Ugt1a10 |
C |
T |
1: 87,983,780 (GRCm39) |
L193F |
probably benign |
Het |
Vps13d |
G |
T |
4: 144,894,716 (GRCm39) |
H457N |
probably benign |
Het |
Vrtn |
A |
G |
12: 84,695,607 (GRCm39) |
Y119C |
probably damaging |
Het |
Xpnpep3 |
T |
C |
15: 81,311,657 (GRCm39) |
F121S |
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 |
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 |
2015-04-16 |