Incidental Mutation 'R1220:Cttn'
| ID |
100006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cttn
|
| Ensembl Gene |
ENSMUSG00000031078 |
| Gene Name |
cortactin |
| Synonyms |
1110020L01Rik, Ems1 |
| MMRRC Submission |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143989468-144024743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144017699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 13
(T13A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033407]
[ENSMUST00000103079]
|
| AlphaFold |
Q60598 |
| PDB Structure |
Lysozyme contamination facilitates crystallization of a hetero-trimericCortactin:Arg:Lysozyme complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033407
AA Change: T13A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: T13A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HS1_rep
|
83 |
119 |
1.3e-22 |
PFAM |
|
Pfam:HS1_rep
|
120 |
156 |
8.6e-25 |
PFAM |
|
Pfam:HS1_rep
|
157 |
193 |
3.4e-25 |
PFAM |
|
Pfam:HS1_rep
|
194 |
230 |
1.9e-23 |
PFAM |
|
Pfam:HS1_rep
|
231 |
267 |
1.2e-24 |
PFAM |
|
Pfam:HS1_rep
|
268 |
293 |
2.4e-10 |
PFAM |
|
coiled coil region
|
311 |
364 |
N/A |
INTRINSIC |
|
SH3
|
454 |
509 |
6.84e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103079
AA Change: T13A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: T13A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HS1_rep
|
83 |
118 |
2.7e-22 |
PFAM |
|
Pfam:HS1_rep
|
120 |
155 |
2.9e-23 |
PFAM |
|
Pfam:HS1_rep
|
157 |
192 |
8.2e-24 |
PFAM |
|
Pfam:HS1_rep
|
194 |
229 |
7.5e-22 |
PFAM |
|
Pfam:HS1_rep
|
231 |
266 |
6.6e-25 |
PFAM |
|
Pfam:HS1_rep
|
268 |
303 |
2.3e-22 |
PFAM |
|
Pfam:HS1_rep
|
305 |
332 |
4.3e-13 |
PFAM |
|
coiled coil region
|
348 |
401 |
N/A |
INTRINSIC |
|
SH3
|
491 |
546 |
6.84e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148778
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit abnormal early zygote development and die prior to the 2-cell stage. Mice homozygous for a different knock-out allele exhibit increased permeability in vascular and lung endothelial cells and impaired neutrophil extravasation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly damaging |
Het |
|
| Other mutations in Cttn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Cttn
|
APN |
7 |
144,011,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01432:Cttn
|
APN |
7 |
144,015,043 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02652:Cttn
|
APN |
7 |
143,995,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4377001:Cttn
|
UTSW |
7 |
143,993,833 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0226:Cttn
|
UTSW |
7 |
143,995,589 (GRCm39) |
splice site |
probably benign |
|
|
R0346:Cttn
|
UTSW |
7 |
144,006,276 (GRCm39) |
splice site |
probably benign |
|
|
R3807:Cttn
|
UTSW |
7 |
143,999,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Cttn
|
UTSW |
7 |
144,011,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Cttn
|
UTSW |
7 |
144,008,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Cttn
|
UTSW |
7 |
144,015,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6835:Cttn
|
UTSW |
7 |
144,010,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6985:Cttn
|
UTSW |
7 |
144,006,324 (GRCm39) |
nonsense |
probably null |
|
|
R7883:Cttn
|
UTSW |
7 |
143,999,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Cttn
|
UTSW |
7 |
144,014,999 (GRCm39) |
nonsense |
probably null |
|
|
R9319:Cttn
|
UTSW |
7 |
144,017,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Cttn
|
UTSW |
7 |
144,011,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAACTTGTATGCCCTGAGACC -3'
(R):5'- TGGAGTTCAGTGACTGTCCTCTGC -3'
Sequencing Primer
(F):5'- TTGTATGCCCTGAGACCTAAACAG -3'
(R):5'- TCTTGCAGATGTGGAAAGCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation