Incidental Mutation 'R7764:Scrib'
ID |
598145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scrib
|
Ensembl Gene |
ENSMUSG00000022568 |
Gene Name |
scribbled planar cell polarity |
Synonyms |
Scrb1, Crc |
MMRRC Submission |
045820-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7764 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
75919011-75941633 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 75919242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 1666
(*1666W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002603]
[ENSMUST00000063747]
[ENSMUST00000109946]
[ENSMUST00000145830]
[ENSMUST00000148211]
[ENSMUST00000187868]
|
AlphaFold |
Q80U72 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002603
AA Change: *1666W
|
SMART Domains |
Protein: ENSMUSP00000002603 Gene: ENSMUSG00000022568 AA Change: *1666W
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: *1613W
|
SMART Domains |
Protein: ENSMUSP00000068056 Gene: ENSMUSG00000022568 AA Change: *1613W
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: *1638W
|
SMART Domains |
Protein: ENSMUSP00000105572 Gene: ENSMUSG00000022568 AA Change: *1638W
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 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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
G |
16: 20,368,040 (GRCm39) |
L93V |
probably benign |
Het |
Adss2 |
A |
C |
1: 177,591,827 (GRCm39) |
M452R |
probably damaging |
Het |
Aldh3b1 |
T |
A |
19: 3,971,563 (GRCm39) |
K102* |
probably null |
Het |
Ccdc162 |
A |
T |
10: 41,566,109 (GRCm39) |
V78D |
possibly damaging |
Het |
Ccr3 |
T |
C |
9: 123,829,451 (GRCm39) |
V262A |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,890 (GRCm39) |
|
probably null |
Het |
Cdyl |
A |
T |
13: 36,000,126 (GRCm39) |
T136S |
possibly damaging |
Het |
Chd2 |
T |
C |
7: 73,121,567 (GRCm39) |
D1015G |
probably null |
Het |
Cntn2 |
C |
A |
1: 132,450,101 (GRCm39) |
A598S |
probably benign |
Het |
Cxxc4 |
G |
T |
3: 133,945,856 (GRCm39) |
G146C |
unknown |
Het |
Dnah2 |
G |
A |
11: 69,348,984 (GRCm39) |
T2501I |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,074,899 (GRCm39) |
I471N |
probably benign |
Het |
Eaf2 |
A |
G |
16: 36,645,045 (GRCm39) |
V59A |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,347,736 (GRCm39) |
I65F |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,017,333 (GRCm39) |
V577A |
possibly damaging |
Het |
Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
Fosb |
T |
C |
7: 19,038,971 (GRCm39) |
D271G |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,272,891 (GRCm39) |
Y834H |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,811,252 (GRCm39) |
S2524P |
possibly damaging |
Het |
Gbp3 |
A |
G |
3: 142,271,024 (GRCm39) |
T143A |
probably benign |
Het |
Grk2 |
A |
T |
19: 4,337,391 (GRCm39) |
L632Q |
probably damaging |
Het |
Hars1 |
A |
T |
18: 36,903,237 (GRCm39) |
D364E |
probably damaging |
Het |
Hsd17b4 |
G |
T |
18: 50,279,482 (GRCm39) |
G154* |
probably null |
Het |
Kif5c |
T |
C |
2: 49,617,973 (GRCm39) |
|
probably null |
Het |
Kif5c |
T |
C |
2: 49,639,339 (GRCm39) |
L800P |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,218 (GRCm39) |
N282S |
probably benign |
Het |
Med23 |
T |
G |
10: 24,785,818 (GRCm39) |
|
probably null |
Het |
Meltf |
A |
G |
16: 31,699,085 (GRCm39) |
Q65R |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,598,842 (GRCm39) |
S1106P |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,655,242 (GRCm39) |
T733A |
probably damaging |
Het |
Mul1 |
G |
A |
4: 138,162,080 (GRCm39) |
G4S |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk |
G |
T |
16: 34,742,553 (GRCm39) |
V1022L |
probably benign |
Het |
Ncald |
G |
T |
15: 37,397,454 (GRCm39) |
N75K |
probably damaging |
Het |
Nfib |
A |
G |
4: 82,238,731 (GRCm39) |
S492P |
possibly damaging |
Het |
Notch2 |
A |
T |
3: 98,050,304 (GRCm39) |
I1860F |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,111 (GRCm39) |
I281T |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,683,263 (GRCm39) |
S298P |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,190,082 (GRCm39) |
D2818G |
probably benign |
Het |
Pmpcb |
G |
A |
5: 21,948,450 (GRCm39) |
A244T |
probably damaging |
Het |
Poln |
A |
G |
5: 34,274,151 (GRCm39) |
|
probably null |
Het |
Polr1a |
G |
A |
6: 71,930,054 (GRCm39) |
V914M |
probably damaging |
Het |
Rab15 |
A |
C |
12: 76,851,215 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
G |
T |
9: 89,876,747 (GRCm39) |
S704I |
possibly damaging |
Het |
Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
Sart1 |
C |
A |
19: 5,438,613 (GRCm39) |
G15W |
probably damaging |
Het |
Setd1b |
G |
C |
5: 123,284,622 (GRCm39) |
R184P |
unknown |
Het |
Sfxn2 |
A |
T |
19: 46,574,179 (GRCm39) |
N123I |
probably damaging |
Het |
Slc22a3 |
A |
G |
17: 12,677,383 (GRCm39) |
W262R |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 119,995,905 (GRCm39) |
L1064P |
probably damaging |
Het |
Sorcs2 |
A |
T |
5: 36,181,416 (GRCm39) |
S1077R |
possibly damaging |
Het |
Them7 |
G |
T |
2: 105,128,171 (GRCm39) |
E51* |
probably null |
Het |
Ubc |
A |
G |
5: 125,465,133 (GRCm39) |
S65P |
possibly damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,443 (GRCm39) |
M549K |
possibly damaging |
Het |
Vmn1r222 |
A |
G |
13: 23,416,529 (GRCm39) |
L228P |
probably damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,844,535 (GRCm39) |
T633A |
probably damaging |
Het |
Zfp382 |
T |
C |
7: 29,832,700 (GRCm39) |
V117A |
probably benign |
Het |
Zic1 |
C |
T |
9: 91,247,745 (GRCm39) |
|
probably benign |
Het |
Zmym4 |
A |
T |
4: 126,819,409 (GRCm39) |
F165I |
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 |
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 |
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'- ACTAGTTACAGTCTCGCCACG -3'
(R):5'- TTGGAAGCATCTCCCAGTCC -3'
Sequencing Primer
(F):5'- ACGAGATCCCGGCTACG -3'
(R):5'- CAGTCCTGGTGAGTAGGCG -3'
|
Posted On |
2019-11-26 |