Incidental Mutation 'R5770:Cgnl1'
| ID |
462742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgnl1
|
| Ensembl Gene |
ENSMUSG00000032232 |
| Gene Name |
cingulin-like 1 |
| Synonyms |
4933421H10Rik, Jacop, 9930020M10Rik |
| MMRRC Submission |
043370-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5770 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
71533791-71678884 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 71552769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072899]
[ENSMUST00000072899]
[ENSMUST00000121322]
[ENSMUST00000121322]
[ENSMUST00000122065]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072899
|
| SMART Domains |
Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
| 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 null
Transcript: ENSMUST00000072899
|
| SMART Domains |
Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
| 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 null
Transcript: ENSMUST00000121322
|
| SMART Domains |
Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
| 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 null
Transcript: ENSMUST00000121322
|
| SMART Domains |
Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
| 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 null
Transcript: ENSMUST00000122065
|
| SMART Domains |
Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146567
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
93% (64/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030C10Rik |
T |
C |
12: 20,865,460 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd8 |
A |
G |
8: 71,909,972 (GRCm39) |
V392A |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,728,310 (GRCm39) |
E480G |
probably benign |
Het |
| Ankfy1 |
C |
G |
11: 72,651,082 (GRCm39) |
H1011D |
probably damaging |
Het |
| Aoc3 |
T |
G |
11: 101,222,578 (GRCm39) |
Y271* |
probably null |
Het |
| Bcl9 |
T |
C |
3: 97,122,491 (GRCm39) |
I103V |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,010,018 (GRCm39) |
D109V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,965,669 (GRCm39) |
W13R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,037,500 (GRCm39) |
|
probably benign |
Het |
| Desi2 |
A |
T |
1: 178,084,061 (GRCm39) |
|
probably benign |
Het |
| Dll3 |
T |
C |
7: 27,998,434 (GRCm39) |
E177G |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,779,130 (GRCm39) |
G238D |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm6133 |
A |
G |
18: 78,393,464 (GRCm39) |
K153E |
probably benign |
Het |
| Gpr68 |
A |
T |
12: 100,845,080 (GRCm39) |
Y155N |
probably benign |
Het |
| Hcrtr2 |
T |
A |
9: 76,166,948 (GRCm39) |
I130F |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,122,228 (GRCm39) |
K489R |
probably benign |
Het |
| Ints13 |
T |
C |
6: 146,456,571 (GRCm39) |
N425S |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,912,413 (GRCm39) |
D578G |
probably damaging |
Het |
| Kcns3 |
A |
G |
12: 11,142,250 (GRCm39) |
S150P |
probably benign |
Het |
| Khdrbs3 |
T |
A |
15: 68,921,312 (GRCm39) |
|
probably null |
Het |
| Kif11 |
A |
G |
19: 37,379,313 (GRCm39) |
I335V |
probably benign |
Het |
| Lrrn4 |
C |
G |
2: 132,714,076 (GRCm39) |
C290S |
probably damaging |
Het |
| Macrod2 |
T |
C |
2: 141,074,102 (GRCm39) |
|
probably benign |
Het |
| Mgam |
A |
G |
6: 40,646,738 (GRCm39) |
N688S |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,188,026 (GRCm39) |
E933K |
probably damaging |
Het |
| Nat8f5 |
T |
C |
6: 85,794,657 (GRCm39) |
Y101C |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,168,188 (GRCm39) |
V23A |
probably benign |
Het |
| Nkx2-3 |
T |
A |
19: 43,602,972 (GRCm39) |
F193I |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,414 (GRCm39) |
V172E |
probably benign |
Het |
| Nmrk1 |
G |
T |
19: 18,622,438 (GRCm39) |
R172S |
probably benign |
Het |
| Nudcd3 |
T |
C |
11: 6,063,286 (GRCm39) |
D201G |
probably damaging |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or10g9b |
C |
T |
9: 39,917,634 (GRCm39) |
V204I |
probably benign |
Het |
| Or13a18 |
A |
G |
7: 140,190,856 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t44 |
G |
A |
11: 58,677,420 (GRCm39) |
R120H |
probably benign |
Het |
| Or2y14 |
A |
G |
11: 49,405,419 (GRCm39) |
E318G |
unknown |
Het |
| Or4c12b |
T |
A |
2: 89,646,893 (GRCm39) |
D68E |
probably damaging |
Het |
| Or56a3 |
A |
T |
7: 104,740,102 (GRCm39) |
I248N |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,514 (GRCm39) |
Y119* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pcdh9 |
G |
A |
14: 94,124,379 (GRCm39) |
T597I |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,090 (GRCm39) |
N295S |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,731,607 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,186,146 (GRCm39) |
I1215N |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,182,199 (GRCm39) |
T405I |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,781,757 (GRCm39) |
G763W |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,154 (GRCm39) |
F591L |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,330,497 (GRCm39) |
H1033L |
possibly damaging |
Het |
| Sdha |
A |
T |
13: 74,471,239 (GRCm39) |
C222* |
probably null |
Het |
| Sec16a |
T |
C |
2: 26,304,402 (GRCm39) |
D2303G |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,092,466 (GRCm39) |
I238M |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,363,604 (GRCm39) |
K422E |
possibly damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,363,891 (GRCm39) |
M232K |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,121,734 (GRCm39) |
F300I |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,459 (GRCm39) |
V34A |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,256,885 (GRCm39) |
Q1597L |
possibly damaging |
Het |
| Tgfb1i1 |
A |
T |
7: 127,847,719 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,807 (GRCm39) |
T234A |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,520 (GRCm39) |
Y684C |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,163,536 (GRCm39) |
M585K |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,806,747 (GRCm39) |
I2099T |
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 |
|
|
R2402:Cgnl1
|
UTSW |
9 |
71,632,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CCACTCCAAAGAAAGGGTCTTG -3'
(R):5'- CCTTCTAGTTACGCCTCAAGG -3'
Sequencing Primer
(F):5'- CACTCCAAAGAAAGGGTCTTGATTAC -3'
(R):5'- GAGGAAGAGTTGCAGGACTACC -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation