Incidental Mutation 'R2050:Ctnnal1'
ID |
226312 |
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 |
MMRRC Submission |
040057-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R2050 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56835350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 309
(V309D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
|
AlphaFold |
O88327 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045142
AA Change: V309D
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000036487 Gene: ENSMUSG00000038816 AA Change: V309D
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 |
noncoding transcript
Transcript: ENSMUST00000127908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154511
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
G |
T |
10: 126,916,130 (GRCm39) |
E214* |
probably null |
Het |
Angpt2 |
G |
T |
8: 18,755,673 (GRCm39) |
P265T |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,143,443 (GRCm39) |
|
probably null |
Het |
Arpc1b |
C |
T |
5: 145,062,729 (GRCm39) |
P250S |
probably damaging |
Het |
Atxn10 |
T |
G |
15: 85,249,513 (GRCm39) |
V115G |
probably benign |
Het |
Bace2 |
T |
A |
16: 97,213,336 (GRCm39) |
C100S |
probably damaging |
Het |
Bpifb9b |
T |
C |
2: 154,151,524 (GRCm39) |
S82P |
possibly damaging |
Het |
Cacna1g |
A |
G |
11: 94,300,300 (GRCm39) |
S2157P |
probably damaging |
Het |
Cacnb4 |
T |
A |
2: 52,359,598 (GRCm39) |
I104L |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,643,402 (GRCm39) |
I44T |
possibly damaging |
Het |
Cdh6 |
T |
A |
15: 13,057,587 (GRCm39) |
M245L |
probably benign |
Het |
Celsr1 |
A |
C |
15: 85,914,748 (GRCm39) |
V1075G |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,987,393 (GRCm39) |
F1065L |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Colgalt1 |
T |
C |
8: 72,070,330 (GRCm39) |
|
probably null |
Het |
D7Ertd443e |
T |
A |
7: 133,868,527 (GRCm39) |
E659D |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,464,696 (GRCm39) |
Y516H |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,580,127 (GRCm39) |
L3099P |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,341,520 (GRCm39) |
E1271G |
probably damaging |
Het |
Grap2 |
A |
G |
15: 80,530,444 (GRCm39) |
H188R |
probably benign |
Het |
Grin2c |
T |
C |
11: 115,148,245 (GRCm39) |
D344G |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,225,448 (GRCm39) |
M119T |
probably damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,249,992 (GRCm39) |
I368V |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,870 (GRCm39) |
N249Y |
possibly damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,432 (GRCm39) |
Y36N |
probably damaging |
Het |
Lrp12 |
G |
A |
15: 39,735,985 (GRCm39) |
S649L |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,453,473 (GRCm39) |
S788P |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,887,917 (GRCm39) |
D1164G |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,488,921 (GRCm39) |
|
probably null |
Het |
Myo5a |
G |
A |
9: 75,054,156 (GRCm39) |
E355K |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,743,194 (GRCm39) |
V85E |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,332,123 (GRCm39) |
|
probably null |
Het |
Nlrx1 |
A |
T |
9: 44,174,077 (GRCm39) |
W375R |
probably damaging |
Het |
Pik3c2a |
A |
G |
7: 116,016,686 (GRCm39) |
|
probably null |
Het |
Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
Plk4 |
T |
A |
3: 40,764,815 (GRCm39) |
M603K |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,524,748 (GRCm39) |
V646E |
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,353,349 (GRCm39) |
S510P |
probably benign |
Het |
Slc9a1 |
A |
G |
4: 133,143,645 (GRCm39) |
H377R |
probably benign |
Het |
Snrnp70 |
A |
C |
7: 45,036,724 (GRCm39) |
Y61* |
probably null |
Het |
Spatc1l |
T |
C |
10: 76,399,892 (GRCm39) |
L138P |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,140,825 (GRCm39) |
|
probably null |
Het |
Sptan1 |
T |
A |
2: 29,892,250 (GRCm39) |
S1055T |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,083 (GRCm39) |
M209L |
probably damaging |
Het |
Tdrd12 |
C |
T |
7: 35,228,672 (GRCm39) |
V17I |
probably damaging |
Het |
Tmem129 |
C |
A |
5: 33,815,126 (GRCm39) |
A16S |
probably benign |
Het |
Tmtc1 |
T |
C |
6: 148,164,381 (GRCm39) |
E584G |
probably damaging |
Het |
Trank1 |
C |
A |
9: 111,193,856 (GRCm39) |
H627N |
probably damaging |
Het |
Trio |
T |
C |
15: 27,852,031 (GRCm39) |
D820G |
possibly damaging |
Het |
Trpt1 |
T |
A |
19: 6,975,452 (GRCm39) |
N98K |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,429,069 (GRCm39) |
F857I |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,475,021 (GRCm39) |
V669A |
probably damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,273,681 (GRCm39) |
I832V |
probably damaging |
Het |
Zbtb20 |
T |
A |
16: 43,429,975 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
A |
C |
4: 108,575,800 (GRCm39) |
M427R |
probably benign |
Het |
Zfyve9 |
A |
T |
4: 108,576,500 (GRCm39) |
F194I |
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 |
|
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 |
R7671:Ctnnal1
|
UTSW |
4 |
56,837,848 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTTACGGTTTGCATCCACACG -3'
(R):5'- AGTTCTTGAAACAAGGCCTTGC -3'
Sequencing Primer
(F):5'- TCCACACGGAAAGGAGCTGC -3'
(R):5'- TGCTGACTCCTGAACAAAGTG -3'
|
Posted On |
2014-09-17 |