Incidental Mutation 'R6061:Ctnnal1'
| ID |
483223 |
| 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 |
044226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56812349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 726
(T726A)
|
| 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: T726A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: T726A
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
C |
6: 128,545,675 (GRCm39) |
F484C |
probably damaging |
Het |
| Aoc1l1 |
A |
C |
6: 48,953,535 (GRCm39) |
I487L |
probably benign |
Het |
| Cdsn |
A |
G |
17: 35,865,803 (GRCm39) |
S111G |
unknown |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,853 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,476,275 (GRCm39) |
M1541K |
probably null |
Het |
| Dnah14 |
C |
T |
1: 181,536,616 (GRCm39) |
P2420S |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
| Glipr1l1 |
C |
T |
10: 111,912,075 (GRCm39) |
T203M |
probably benign |
Het |
| Gm4353 |
T |
A |
7: 115,683,504 (GRCm39) |
D97V |
probably benign |
Het |
| Gprc6a |
A |
T |
10: 51,491,907 (GRCm39) |
I543K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,830 (GRCm39) |
T110A |
possibly damaging |
Het |
| Med27 |
T |
A |
2: 29,399,453 (GRCm39) |
S95T |
probably damaging |
Het |
| Mocs1 |
T |
C |
17: 49,757,341 (GRCm39) |
S308P |
probably damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,397 (GRCm39) |
S88F |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,702,845 (GRCm39) |
Y229* |
probably null |
Het |
| Or2f1b |
A |
T |
6: 42,739,899 (GRCm39) |
L304F |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,772 (GRCm39) |
M37V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or52r1 |
C |
A |
7: 102,537,158 (GRCm39) |
L67F |
probably benign |
Het |
| Or5g27 |
T |
A |
2: 85,409,886 (GRCm39) |
M101K |
possibly damaging |
Het |
| Pear1 |
A |
G |
3: 87,663,238 (GRCm39) |
I460T |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,968,678 (GRCm39) |
K816N |
probably damaging |
Het |
| Phf19 |
T |
A |
2: 34,787,129 (GRCm39) |
D445V |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,742 (GRCm39) |
F486L |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,003,639 (GRCm39) |
|
probably benign |
Het |
| Prkca |
A |
G |
11: 107,948,671 (GRCm39) |
I106T |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,248,681 (GRCm39) |
G218R |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,130 (GRCm39) |
D217G |
possibly damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Rfx2 |
A |
G |
17: 57,084,473 (GRCm39) |
F642S |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,075,636 (GRCm39) |
M271K |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,161,977 (GRCm39) |
T259A |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,705 (GRCm39) |
V123M |
possibly damaging |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,888,303 (GRCm39) |
F950L |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,460,664 (GRCm39) |
V551A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,482 (GRCm39) |
D228E |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,531 (GRCm39) |
I269V |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,972,410 (GRCm39) |
M497K |
probably damaging |
Het |
| Wnt5b |
A |
G |
6: 119,410,603 (GRCm39) |
V241A |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,228,342 (GRCm39) |
N353S |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,757 (GRCm39) |
T672M |
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 |
|
|
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 |
|
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'- GCTGTTAGAATCTTAGCAACCACC -3'
(R):5'- GATGACTCTTGTGGTCCAGC -3'
Sequencing Primer
(F):5'- CCATAGCAACATGACTGTCTAATCTG -3'
(R):5'- TGCTATAAACTACTGAAGAAGGTGAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation