Incidental Mutation 'R0217:Ctnnal1'
| ID |
33606 |
| 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 |
038466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R0217 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56813230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 667
(H667R)
|
| 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: H667R
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: H667R
| 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 |
0.1460 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,447,956 (GRCm39) |
|
probably benign |
Het |
| Actr3 |
A |
G |
1: 125,335,150 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,933 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,879,940 (GRCm39) |
V310A |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,912 (GRCm39) |
S2048R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,618 (GRCm39) |
S421T |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccdc150 |
T |
G |
1: 54,339,589 (GRCm39) |
S478A |
possibly damaging |
Het |
| Ccnyl1 |
T |
A |
1: 64,752,257 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,784,718 (GRCm39) |
T15A |
unknown |
Het |
| Cdk19 |
C |
T |
10: 40,352,254 (GRCm39) |
|
probably benign |
Het |
| Comp |
A |
C |
8: 70,831,558 (GRCm39) |
D420A |
probably damaging |
Het |
| Cyp20a1 |
C |
A |
1: 60,382,625 (GRCm39) |
|
probably benign |
Het |
| Eci3 |
A |
C |
13: 35,132,072 (GRCm39) |
S259A |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,969,689 (GRCm39) |
D126G |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,387,649 (GRCm39) |
M124T |
possibly damaging |
Het |
| Gm12790 |
T |
C |
4: 101,825,231 (GRCm39) |
Y61C |
probably damaging |
Het |
| Hmgcr |
A |
C |
13: 96,788,488 (GRCm39) |
I777S |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,597,311 (GRCm39) |
E100G |
probably damaging |
Het |
| Itgb2 |
G |
T |
10: 77,384,370 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,274,050 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,550,029 (GRCm39) |
S2333P |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,524,353 (GRCm39) |
L365P |
possibly damaging |
Het |
| Map2k5 |
A |
T |
9: 63,164,257 (GRCm39) |
|
probably null |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,063,504 (GRCm39) |
L2620Q |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,400 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,891,552 (GRCm39) |
N286S |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,214 (GRCm39) |
V150E |
possibly damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,505 (GRCm39) |
H135N |
probably benign |
Het |
| Pank3 |
T |
A |
11: 35,668,555 (GRCm39) |
D181E |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,981,302 (GRCm39) |
|
probably null |
Het |
| Plag1 |
A |
C |
4: 3,904,379 (GRCm39) |
S271A |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,906 (GRCm39) |
I280N |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,940,687 (GRCm39) |
V1007A |
probably benign |
Het |
| Ppm1h |
T |
A |
10: 122,756,640 (GRCm39) |
D428E |
probably damaging |
Het |
| Prelid2 |
A |
T |
18: 42,068,317 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,393,830 (GRCm39) |
Y881C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,785,738 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,542,387 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,039,570 (GRCm39) |
D843G |
probably damaging |
Het |
| Serpina3b |
C |
T |
12: 104,096,986 (GRCm39) |
A89V |
probably damaging |
Het |
| Serpinb9d |
C |
A |
13: 33,382,005 (GRCm39) |
T158N |
possibly damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,874,700 (GRCm39) |
V201I |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,301,279 (GRCm39) |
N189K |
probably damaging |
Het |
| Smco1 |
G |
T |
16: 32,092,599 (GRCm39) |
R90L |
possibly damaging |
Het |
| Stim1 |
T |
A |
7: 102,085,007 (GRCm39) |
M653K |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,882 (GRCm39) |
S437G |
possibly damaging |
Het |
| Stxbp3-ps |
T |
G |
19: 9,536,496 (GRCm39) |
|
noncoding transcript |
Het |
| Tgtp1 |
A |
C |
11: 48,878,146 (GRCm39) |
S186R |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 56,937,581 (GRCm39) |
W570* |
probably null |
Het |
| Trpv4 |
C |
A |
5: 114,772,722 (GRCm39) |
R289L |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,634 (GRCm39) |
M206V |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,544,336 (GRCm39) |
V653E |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,148,953 (GRCm39) |
R64G |
probably benign |
Het |
| Zfp661 |
C |
T |
2: 127,419,211 (GRCm39) |
E310K |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,112 (GRCm39) |
I352N |
possibly damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,293 (GRCm39) |
L863P |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,779,894 (GRCm39) |
I1889N |
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 |
|
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 |
|
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'- GCTGCTTTCAGACGAGCATGAAAC -3'
(R):5'- ATACGAGTCGTAGGCTAGGAGCAC -3'
Sequencing Primer
(F):5'- CATGGAAACAGACTCTGTGTG -3'
(R):5'- acactcaggagactaaaacagg -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation