Incidental Mutation 'R7671:Ctnnal1'
| ID |
592152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctnnal1
|
| Ensembl Gene |
ENSMUSG00000038816 |
| Gene Name |
catenin alpha like 1 |
| Synonyms |
Catnal1, catenin (cadherin associated protein), alpha-like 1, ACRP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R7671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56837848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 261
(F261L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
[ENSMUST00000107612]
|
| AlphaFold |
O88327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045142
AA Change: F261L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: F261L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:Vinculin
|
30 |
309 |
7e-39 |
PFAM |
|
Pfam:Vinculin
|
302 |
526 |
1.7e-12 |
PFAM |
|
Pfam:Vinculin
|
531 |
683 |
5.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107612
|
| SMART Domains |
Protein: ENSMUSP00000103237
Gene: ENSMUSG00000038816
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:Vinculin
|
30 |
214 |
5.4e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and exhibit no overt phenotypes or defects in hematopoiesis and hematopoietic stem cell function. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(111) : Targeted, other(2) Gene trapped(109)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
A |
7: 75,219,648 (GRCm39) |
T17K |
probably damaging |
Het |
| Ankrd29 |
T |
A |
18: 12,394,043 (GRCm39) |
K257I |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,792,997 (GRCm39) |
L219P |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,997,380 (GRCm39) |
F1146L |
probably damaging |
Het |
| Boc |
C |
T |
16: 44,312,212 (GRCm39) |
V617M |
|
Het |
| Ccl8 |
A |
G |
11: 82,006,033 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,921,217 (GRCm39) |
L261P |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,686,382 (GRCm39) |
|
probably null |
Het |
| Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
A |
G |
15: 78,223,130 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
| Defb22 |
A |
T |
2: 152,327,950 (GRCm39) |
N78K |
unknown |
Het |
| Dele1 |
T |
A |
18: 38,392,978 (GRCm39) |
I394N |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,709,283 (GRCm39) |
|
probably null |
Het |
| Elp4 |
G |
T |
2: 105,734,826 (GRCm39) |
A3E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,905 (GRCm39) |
V607A |
probably benign |
Het |
| Epsti1 |
A |
G |
14: 78,141,930 (GRCm39) |
Y2C |
probably damaging |
Het |
| Fam81b |
A |
C |
13: 76,419,412 (GRCm39) |
L46R |
probably damaging |
Het |
| Fam81b |
G |
T |
13: 76,419,413 (GRCm39) |
L46I |
possibly damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,982,278 (GRCm39) |
H288Q |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,973,323 (GRCm39) |
N77I |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,890,216 (GRCm39) |
Y715C |
possibly damaging |
Het |
| H2bc27 |
T |
C |
11: 58,840,102 (GRCm39) |
S113P |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,764,627 (GRCm39) |
D1539G |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,496,516 (GRCm39) |
N633S |
probably benign |
Het |
| Krt6a |
C |
A |
15: 101,598,978 (GRCm39) |
S529I |
unknown |
Het |
| Leo1 |
A |
G |
9: 75,352,844 (GRCm39) |
H129R |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,798,323 (GRCm39) |
V55M |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,665 (GRCm39) |
S472P |
probably benign |
Het |
| Med27 |
T |
A |
2: 29,267,950 (GRCm39) |
V33D |
|
Het |
| Mgat4f |
T |
C |
1: 134,317,800 (GRCm39) |
C191R |
probably benign |
Het |
| Mup15 |
C |
T |
4: 61,356,526 (GRCm39) |
E80K |
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,750,246 (GRCm39) |
R199H |
|
Het |
| Nebl |
T |
A |
2: 17,395,727 (GRCm39) |
R558* |
probably null |
Het |
| Or10ak8 |
A |
T |
4: 118,774,183 (GRCm39) |
H160Q |
probably benign |
Het |
| Or11g7 |
G |
T |
14: 50,691,342 (GRCm39) |
V278L |
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,613 (GRCm39) |
T246A |
probably damaging |
Het |
| Or4a79 |
A |
T |
2: 89,551,603 (GRCm39) |
I284K |
probably damaging |
Het |
| Or5p78 |
T |
C |
7: 108,212,198 (GRCm39) |
I228T |
probably damaging |
Het |
| Or6c217 |
T |
C |
10: 129,738,222 (GRCm39) |
D119G |
probably damaging |
Het |
| Or8b41 |
A |
T |
9: 38,054,736 (GRCm39) |
M97L |
probably benign |
Het |
| Pde11a |
A |
T |
2: 76,045,697 (GRCm39) |
F376I |
possibly damaging |
Het |
| Prima1 |
A |
T |
12: 103,201,920 (GRCm39) |
C52S |
probably damaging |
Het |
| Pxn |
G |
A |
5: 115,686,606 (GRCm39) |
R366H |
not run |
Het |
| Sgce |
T |
C |
6: 4,691,564 (GRCm39) |
Y337C |
probably damaging |
Het |
| Slc25a10 |
T |
A |
11: 120,386,286 (GRCm39) |
M130K |
probably benign |
Het |
| Slc29a2 |
A |
T |
19: 5,074,290 (GRCm39) |
N5I |
probably benign |
Het |
| Slc35a1 |
A |
T |
4: 34,673,875 (GRCm39) |
H150Q |
|
Het |
| Slc5a4a |
T |
A |
10: 75,983,384 (GRCm39) |
V7D |
unknown |
Het |
| Stk17b |
T |
A |
1: 53,805,159 (GRCm39) |
D134V |
probably damaging |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Thbs3 |
T |
A |
3: 89,124,014 (GRCm39) |
S36T |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 60,335,457 (GRCm39) |
S152P |
probably benign |
Het |
| Tmem67 |
G |
T |
4: 12,063,698 (GRCm39) |
H422N |
probably benign |
Het |
| Tram1 |
C |
A |
1: 13,659,868 (GRCm39) |
V27F |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,507,238 (GRCm39) |
V326A |
possibly damaging |
Het |
|
| Other mutations in Ctnnal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00756:Ctnnal1
|
APN |
4 |
56,829,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01404:Ctnnal1
|
APN |
4 |
56,829,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Ctnnal1
|
APN |
4 |
56,835,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Ctnnal1
|
APN |
4 |
56,835,306 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02618:Ctnnal1
|
APN |
4 |
56,817,060 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03109:Ctnnal1
|
APN |
4 |
56,839,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Ctnnal1
|
APN |
4 |
56,844,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03208:Ctnnal1
|
APN |
4 |
56,813,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03250:Ctnnal1
|
APN |
4 |
56,812,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
NA:Ctnnal1
|
UTSW |
4 |
56,817,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0217:Ctnnal1
|
UTSW |
4 |
56,813,230 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0391:Ctnnal1
|
UTSW |
4 |
56,847,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Ctnnal1
|
UTSW |
4 |
56,835,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0582:Ctnnal1
|
UTSW |
4 |
56,813,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Ctnnal1
|
UTSW |
4 |
56,847,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1638:Ctnnal1
|
UTSW |
4 |
56,813,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1760:Ctnnal1
|
UTSW |
4 |
56,838,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Ctnnal1
|
UTSW |
4 |
56,812,534 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1954:Ctnnal1
|
UTSW |
4 |
56,817,242 (GRCm39) |
splice site |
probably benign |
|
|
R2050:Ctnnal1
|
UTSW |
4 |
56,835,350 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2104:Ctnnal1
|
UTSW |
4 |
56,812,329 (GRCm39) |
makesense |
probably null |
|
|
R3104:Ctnnal1
|
UTSW |
4 |
56,813,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3106:Ctnnal1
|
UTSW |
4 |
56,813,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3918:Ctnnal1
|
UTSW |
4 |
56,865,000 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4705:Ctnnal1
|
UTSW |
4 |
56,812,579 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4757:Ctnnal1
|
UTSW |
4 |
56,847,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Ctnnal1
|
UTSW |
4 |
56,847,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Ctnnal1
|
UTSW |
4 |
56,847,854 (GRCm39) |
nonsense |
probably null |
|
|
R5771:Ctnnal1
|
UTSW |
4 |
56,826,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5974:Ctnnal1
|
UTSW |
4 |
56,817,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Ctnnal1
|
UTSW |
4 |
56,812,349 (GRCm39) |
missense |
probably benign |
|
|
R6129:Ctnnal1
|
UTSW |
4 |
56,829,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6389:Ctnnal1
|
UTSW |
4 |
56,813,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Ctnnal1
|
UTSW |
4 |
56,817,299 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7372:Ctnnal1
|
UTSW |
4 |
56,826,285 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7454:Ctnnal1
|
UTSW |
4 |
56,844,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Ctnnal1
|
UTSW |
4 |
56,837,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Ctnnal1
|
UTSW |
4 |
56,817,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8097:Ctnnal1
|
UTSW |
4 |
56,847,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Ctnnal1
|
UTSW |
4 |
56,813,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8697:Ctnnal1
|
UTSW |
4 |
56,838,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8809:Ctnnal1
|
UTSW |
4 |
56,835,374 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9649:Ctnnal1
|
UTSW |
4 |
56,865,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9739:Ctnnal1
|
UTSW |
4 |
56,816,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Ctnnal1
|
UTSW |
4 |
56,844,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9791:Ctnnal1
|
UTSW |
4 |
56,844,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCCCTTCAATGAGAAAGG -3'
(R):5'- AGATGCAACTTTACTCTCTGGTCAC -3'
Sequencing Primer
(F):5'- CTTCAATGAGAAAGGAAAACAAGCC -3'
(R):5'- CATCCTGCTTCCACACTAGTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation