Incidental Mutation 'R3104:Ctnnal1'
ID |
262944 |
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 |
040578-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R3104 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56813246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 662
(L662F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
[ENSMUST00000045368]
[ENSMUST00000131520]
|
AlphaFold |
O88327 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045142
AA Change: L662F
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000036487 Gene: ENSMUSG00000038816 AA Change: L662F
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: ENSMUST00000045368
|
SMART Domains |
Protein: ENSMUSP00000047275 Gene: ENSMUSG00000038827
Domain | Start | End | E-Value | Type |
Pfam:GCV_H
|
117 |
185 |
5e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131520
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134915
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
A |
3: 88,961,693 (GRCm39) |
V2355E |
probably damaging |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Bmp4 |
G |
A |
14: 46,623,438 (GRCm39) |
A36V |
probably benign |
Het |
Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
Cdh9 |
T |
C |
15: 16,855,900 (GRCm39) |
S647P |
probably damaging |
Het |
Cntln |
C |
T |
4: 84,875,406 (GRCm39) |
T280M |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,650,204 (GRCm39) |
T398A |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 17,077,247 (GRCm39) |
Y137H |
probably damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,094,083 (GRCm39) |
I60V |
probably benign |
Het |
Cyp2c68 |
C |
T |
19: 39,722,757 (GRCm39) |
V264I |
probably benign |
Het |
Dbx1 |
A |
T |
7: 49,286,417 (GRCm39) |
L16H |
probably damaging |
Het |
Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
Dnah7c |
T |
A |
1: 46,837,439 (GRCm39) |
Y3951N |
probably damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Fam124b |
T |
A |
1: 80,190,748 (GRCm39) |
I212F |
probably damaging |
Het |
Fam187b |
A |
G |
7: 30,676,665 (GRCm39) |
D58G |
probably benign |
Het |
Galnt4 |
T |
C |
10: 98,945,243 (GRCm39) |
Y323H |
probably benign |
Het |
Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
Gm5174 |
A |
G |
10: 86,492,519 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird2 |
G |
A |
5: 134,237,756 (GRCm39) |
D278N |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,785,103 (GRCm39) |
D1480E |
probably benign |
Het |
Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,214,335 (GRCm39) |
|
probably null |
Het |
Lgr6 |
A |
G |
1: 134,928,210 (GRCm39) |
|
probably null |
Het |
Lmod2 |
A |
C |
6: 24,604,471 (GRCm39) |
K482T |
probably damaging |
Het |
Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,262,598 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
C |
A |
7: 30,166,965 (GRCm39) |
S724* |
probably null |
Het |
Or5t9 |
T |
C |
2: 86,660,035 (GRCm39) |
M313T |
probably benign |
Het |
Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
Pcdhgc5 |
A |
G |
18: 37,954,727 (GRCm39) |
E667G |
possibly damaging |
Het |
Plce1 |
C |
T |
19: 38,608,963 (GRCm39) |
P424L |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,196,635 (GRCm39) |
T694M |
probably damaging |
Het |
Prkag2 |
T |
A |
5: 25,076,067 (GRCm39) |
K233* |
probably null |
Het |
Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,241,203 (GRCm39) |
T74A |
probably benign |
Het |
Sppl2b |
A |
G |
10: 80,703,325 (GRCm39) |
E529G |
probably benign |
Het |
Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,765,035 (GRCm39) |
N8D |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,662,450 (GRCm39) |
V1768I |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
Usp29 |
T |
A |
7: 6,965,052 (GRCm39) |
C298* |
probably null |
Het |
Usp8 |
T |
C |
2: 126,600,432 (GRCm39) |
V1050A |
probably damaging |
Het |
Vmn1r38 |
T |
C |
6: 66,753,430 (GRCm39) |
T229A |
probably benign |
Het |
Yes1 |
T |
C |
5: 32,810,515 (GRCm39) |
S195P |
probably 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 |
|
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'- CAGACTCTGTGTGCACTTTAGC -3'
(R):5'- TCTTAAAATATAAGCACGGGGTGG -3'
Sequencing Primer
(F):5'- CACTTTAGCACGAAGGGCTG -3'
(R):5'- GCCAACCTGGTCTACATATGGAG -3'
|
Posted On |
2015-02-05 |