Incidental Mutation 'R2402:Cgnl1'
| ID |
248761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgnl1
|
| Ensembl Gene |
ENSMUSG00000032232 |
| Gene Name |
cingulin-like 1 |
| Synonyms |
4933421H10Rik, Jacop, 9930020M10Rik |
| MMRRC Submission |
040368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
71533791-71678884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71632461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 297
(S297P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072899]
[ENSMUST00000121322]
[ENSMUST00000122065]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072899
AA Change: S297P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: S297P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
984 |
1255 |
5.4e-30 |
PFAM |
|
low complexity region
|
1258 |
1278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121322
AA Change: S297P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
AA Change: S297P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
653 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
909 |
1184 |
2.3e-30 |
PFAM |
|
low complexity region
|
1187 |
1207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122065
AA Change: S297P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: S297P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
582 |
1034 |
1.3e-12 |
PFAM |
|
Pfam:Myosin_tail_1
|
1011 |
1253 |
7.7e-38 |
PFAM |
|
low complexity region
|
1258 |
1278 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein localized to the tight junctions and adherens junctions in vertebrate epithelial cells. The encoded protein regulates the activity of Rho family GTPases during junction assembly and at confluence. At the adherens junctions, the encoded protein is part of a protein complex that links E-cadherin to the microtubule cytoskeleton. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,235,770 (GRCm39) |
D1199V |
probably damaging |
Het |
| Abcc6 |
A |
T |
7: 45,664,999 (GRCm39) |
S277R |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,035,280 (GRCm39) |
S269G |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,806,048 (GRCm39) |
S227G |
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,747,112 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,539 (GRCm39) |
S141P |
possibly damaging |
Het |
| Atic |
T |
A |
1: 71,608,216 (GRCm39) |
Y303* |
probably null |
Het |
| Bbs9 |
C |
T |
9: 22,557,359 (GRCm39) |
P510L |
probably benign |
Het |
| Bcl2a1b |
A |
G |
9: 89,081,795 (GRCm39) |
N128S |
probably benign |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,549 (GRCm39) |
M75K |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,494,836 (GRCm39) |
L324Q |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,722,782 (GRCm39) |
L550Q |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,087,412 (GRCm39) |
I142T |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,882 (GRCm39) |
D2320E |
probably benign |
Het |
| Cr1l |
T |
A |
1: 194,789,210 (GRCm39) |
Y398F |
probably benign |
Het |
| Ctsa |
A |
T |
2: 164,676,813 (GRCm39) |
D145V |
probably benign |
Het |
| Ctsj |
C |
T |
13: 61,148,388 (GRCm39) |
G303D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,800 (GRCm39) |
I250M |
probably benign |
Het |
| Doc2a |
C |
A |
7: 126,447,919 (GRCm39) |
C54* |
probably null |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,544 (GRCm39) |
T685A |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,728,535 (GRCm39) |
C243* |
probably null |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,690 (GRCm39) |
T60A |
possibly damaging |
Het |
| Exph5 |
C |
A |
9: 53,286,225 (GRCm39) |
S1102* |
probably null |
Het |
| Fhl3 |
T |
C |
4: 124,599,481 (GRCm39) |
Y19H |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,528,646 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,829,777 (GRCm39) |
N262S |
probably benign |
Het |
| Gon4l |
G |
T |
3: 88,766,350 (GRCm39) |
C463F |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,428,631 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,200 (GRCm39) |
C185R |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,792,317 (GRCm39) |
V2474A |
probably benign |
Het |
| Htr3a |
C |
T |
9: 48,812,795 (GRCm39) |
E215K |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,451 (GRCm39) |
T271A |
probably benign |
Het |
| Klra2 |
A |
G |
6: 131,220,864 (GRCm39) |
I66T |
probably benign |
Het |
| Neto2 |
T |
C |
8: 86,417,541 (GRCm39) |
K21R |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,906,971 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
G |
T |
15: 101,169,618 (GRCm39) |
R296L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,496 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,397 (GRCm39) |
V212A |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,452,198 (GRCm39) |
C1102* |
probably null |
Het |
| Phip |
C |
T |
9: 82,757,358 (GRCm39) |
A1605T |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,942,564 (GRCm39) |
M105K |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,707,532 (GRCm39) |
V219I |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,195,112 (GRCm39) |
N1271K |
probably damaging |
Het |
| Reg3g |
A |
T |
6: 78,444,475 (GRCm39) |
L106H |
probably damaging |
Het |
| Rhobtb1 |
G |
A |
10: 69,106,254 (GRCm39) |
G273D |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,861,952 (GRCm39) |
D771G |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,573 (GRCm39) |
I935V |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,763,792 (GRCm39) |
N397K |
probably damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,957 (GRCm39) |
Q205R |
probably benign |
Het |
| Tle5 |
T |
A |
10: 81,400,712 (GRCm39) |
C89S |
possibly damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,209 (GRCm39) |
N195D |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,095,843 (GRCm39) |
T84A |
probably benign |
Het |
| Usb1 |
T |
A |
8: 96,069,759 (GRCm39) |
F102L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,529 (GRCm39) |
T650A |
possibly damaging |
Het |
| Zbtb41 |
A |
C |
1: 139,350,923 (GRCm39) |
D12A |
probably benign |
Het |
| Zbtb41 |
G |
T |
1: 139,350,925 (GRCm39) |
E13* |
probably null |
Het |
| Zfp821 |
C |
T |
8: 110,447,872 (GRCm39) |
S71F |
probably damaging |
Het |
|
| Other mutations in Cgnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Cgnl1
|
APN |
9 |
71,563,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01128:Cgnl1
|
APN |
9 |
71,631,843 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01450:Cgnl1
|
APN |
9 |
71,539,144 (GRCm39) |
splice site |
probably benign |
|
|
IGL01788:Cgnl1
|
APN |
9 |
71,562,672 (GRCm39) |
missense |
probably benign |
|
|
IGL01806:Cgnl1
|
APN |
9 |
71,557,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01906:Cgnl1
|
APN |
9 |
71,631,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01933:Cgnl1
|
APN |
9 |
71,552,765 (GRCm39) |
splice site |
probably benign |
|
|
IGL01939:Cgnl1
|
APN |
9 |
71,632,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Cgnl1
|
APN |
9 |
71,632,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02127:Cgnl1
|
APN |
9 |
71,633,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Cgnl1
|
APN |
9 |
71,552,835 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02510:Cgnl1
|
APN |
9 |
71,632,639 (GRCm39) |
missense |
probably benign |
0.41 |
|
FR4548:Cgnl1
|
UTSW |
9 |
71,631,999 (GRCm39) |
small insertion |
probably benign |
|
|
R0058:Cgnl1
|
UTSW |
9 |
71,632,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0058:Cgnl1
|
UTSW |
9 |
71,548,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Cgnl1
|
UTSW |
9 |
71,563,384 (GRCm39) |
missense |
probably benign |
|
|
R0220:Cgnl1
|
UTSW |
9 |
71,632,225 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0242:Cgnl1
|
UTSW |
9 |
71,628,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Cgnl1
|
UTSW |
9 |
71,612,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Cgnl1
|
UTSW |
9 |
71,558,535 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1018:Cgnl1
|
UTSW |
9 |
71,633,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1026:Cgnl1
|
UTSW |
9 |
71,624,713 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1056:Cgnl1
|
UTSW |
9 |
71,633,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1299:Cgnl1
|
UTSW |
9 |
71,628,994 (GRCm39) |
splice site |
probably benign |
|
|
R1513:Cgnl1
|
UTSW |
9 |
71,631,872 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1546:Cgnl1
|
UTSW |
9 |
71,633,097 (GRCm39) |
missense |
probably benign |
|
|
R1599:Cgnl1
|
UTSW |
9 |
71,548,709 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1657:Cgnl1
|
UTSW |
9 |
71,633,226 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1970:Cgnl1
|
UTSW |
9 |
71,632,817 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2004:Cgnl1
|
UTSW |
9 |
71,537,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2080:Cgnl1
|
UTSW |
9 |
71,563,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2085:Cgnl1
|
UTSW |
9 |
71,538,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Cgnl1
|
UTSW |
9 |
71,632,950 (GRCm39) |
nonsense |
probably null |
|
|
R3954:Cgnl1
|
UTSW |
9 |
71,631,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4043:Cgnl1
|
UTSW |
9 |
71,612,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Cgnl1
|
UTSW |
9 |
71,631,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4825:Cgnl1
|
UTSW |
9 |
71,537,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4851:Cgnl1
|
UTSW |
9 |
71,632,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4882:Cgnl1
|
UTSW |
9 |
71,624,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Cgnl1
|
UTSW |
9 |
71,632,108 (GRCm39) |
small deletion |
probably benign |
|
|
R5057:Cgnl1
|
UTSW |
9 |
71,632,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5263:Cgnl1
|
UTSW |
9 |
71,539,936 (GRCm39) |
nonsense |
probably null |
|
|
R5402:Cgnl1
|
UTSW |
9 |
71,536,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Cgnl1
|
UTSW |
9 |
71,537,957 (GRCm39) |
splice site |
probably null |
|
|
R5770:Cgnl1
|
UTSW |
9 |
71,552,769 (GRCm39) |
splice site |
probably null |
|
|
R6911:Cgnl1
|
UTSW |
9 |
71,563,497 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7014:Cgnl1
|
UTSW |
9 |
71,632,416 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7106:Cgnl1
|
UTSW |
9 |
71,633,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7203:Cgnl1
|
UTSW |
9 |
71,631,815 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7231:Cgnl1
|
UTSW |
9 |
71,539,927 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7241:Cgnl1
|
UTSW |
9 |
71,632,052 (GRCm39) |
missense |
probably benign |
|
|
R7288:Cgnl1
|
UTSW |
9 |
71,632,846 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7327:Cgnl1
|
UTSW |
9 |
71,633,165 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7390:Cgnl1
|
UTSW |
9 |
71,552,931 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7529:Cgnl1
|
UTSW |
9 |
71,539,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Cgnl1
|
UTSW |
9 |
71,632,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Cgnl1
|
UTSW |
9 |
71,632,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7990:Cgnl1
|
UTSW |
9 |
71,632,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8502:Cgnl1
|
UTSW |
9 |
71,537,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8926:Cgnl1
|
UTSW |
9 |
71,632,535 (GRCm39) |
missense |
probably benign |
|
|
R9010:Cgnl1
|
UTSW |
9 |
71,558,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9106:Cgnl1
|
UTSW |
9 |
71,628,873 (GRCm39) |
splice site |
probably benign |
|
|
R9189:Cgnl1
|
UTSW |
9 |
71,630,847 (GRCm39) |
nonsense |
probably null |
|
|
R9395:Cgnl1
|
UTSW |
9 |
71,539,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9680:Cgnl1
|
UTSW |
9 |
71,562,632 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9694:Cgnl1
|
UTSW |
9 |
71,632,803 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9760:Cgnl1
|
UTSW |
9 |
71,552,853 (GRCm39) |
nonsense |
probably null |
|
|
RF015:Cgnl1
|
UTSW |
9 |
71,631,997 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Cgnl1
|
UTSW |
9 |
71,631,997 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGAATTGAGCAGGTGTC -3'
(R):5'- GCAGCTCTGTGGTCATAGAAG -3'
Sequencing Primer
(F):5'- AATTGAGCAGGTGTCGATATCCC -3'
(R):5'- AGACCTCAGTGTGCGTGAAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation