Incidental Mutation 'R0582:Ctnnal1'
ID |
56458 |
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 |
038772-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R0582 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 56813228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Glutamic Acid
at position 668
(Q668E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
[ENSMUST00000045368]
[ENSMUST00000131520]
|
AlphaFold |
O88327 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045142
AA Change: Q668E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036487 Gene: ENSMUSG00000038816 AA Change: Q668E
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 |
0.5163 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
Validation Efficiency |
100% (45/45) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
Atp11a |
T |
C |
8: 12,881,214 (GRCm39) |
S451P |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
Ipp |
T |
C |
4: 116,372,664 (GRCm39) |
L231S |
probably damaging |
Het |
Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
Nfe2l2 |
T |
A |
2: 75,507,112 (GRCm39) |
E329D |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
A |
T |
2: 53,035,704 (GRCm39) |
F695L |
probably damaging |
Het |
Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
Sycp2l |
T |
A |
13: 41,291,431 (GRCm39) |
|
probably benign |
Het |
Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
Wdr53 |
G |
A |
16: 32,070,726 (GRCm39) |
V24M |
probably damaging |
Het |
Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
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 |
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 |
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'- GCTTTCAGACGAGCATGAAACATGG -3'
(R):5'- AGTCGTAGGCTAGGAGCACATTCAG -3'
Sequencing Primer
(F):5'- CATGGAAACAGACTCTGTGTG -3'
(R):5'- acactcaggagactaaaacagg -3'
|
Posted On |
2013-07-11 |