Incidental Mutation 'IGL01647:Armc10'
| ID |
102732 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armc10
|
| Ensembl Gene |
ENSMUSG00000038525 |
| Gene Name |
armadillo repeat containing 10 |
| Synonyms |
2810037C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL01647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21851004-21867697 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 21851091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000072896]
[ENSMUST00000095495]
[ENSMUST00000115234]
[ENSMUST00000148873]
|
| AlphaFold |
Q9D0L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051358
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
|
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
|
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
|
LRR
|
354 |
378 |
3.67e2 |
SMART |
|
LRR
|
379 |
404 |
2.75e-3 |
SMART |
|
LRR
|
407 |
425 |
4.51e2 |
SMART |
|
LRR
|
426 |
451 |
2.63e0 |
SMART |
|
LRR
|
476 |
501 |
4.15e1 |
SMART |
|
LRR
|
502 |
526 |
1.82e1 |
SMART |
|
LRR
|
529 |
554 |
1.76e-1 |
SMART |
|
LRR_CC
|
555 |
580 |
4.61e-5 |
SMART |
|
LRR
|
604 |
629 |
8.81e-2 |
SMART |
|
LRR
|
630 |
655 |
2.37e1 |
SMART |
|
LRR
|
656 |
681 |
3.21e-4 |
SMART |
|
LRR
|
682 |
707 |
6.57e-1 |
SMART |
|
LRR
|
708 |
733 |
9.47e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072896
|
| SMART Domains |
Protein: ENSMUSP00000072669
Gene: ENSMUSG00000038525
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
48 |
300 |
2e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095495
|
| SMART Domains |
Protein: ENSMUSP00000093149
Gene: ENSMUSG00000038525
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
48 |
234 |
6.5e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115234
|
| SMART Domains |
Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
|
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
|
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
|
LRR
|
354 |
378 |
3.67e2 |
SMART |
|
LRR
|
379 |
404 |
2.75e-3 |
SMART |
|
LRR
|
407 |
432 |
6.88e-4 |
SMART |
|
Blast:LRR
|
433 |
458 |
7e-8 |
BLAST |
|
LRR
|
459 |
484 |
2.63e0 |
SMART |
|
LRR
|
509 |
534 |
4.15e1 |
SMART |
|
LRR
|
535 |
559 |
1.82e1 |
SMART |
|
LRR
|
562 |
587 |
1.76e-1 |
SMART |
|
LRR_CC
|
588 |
613 |
4.61e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146599
|
| SMART Domains |
Protein: ENSMUSP00000120368
Gene: ENSMUSG00000038525
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148873
|
| SMART Domains |
Protein: ENSMUSP00000120269
Gene: ENSMUSG00000038525
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
38 |
286 |
4.7e-113 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
| Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
| Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
| Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
| Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
| Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
| Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
| Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
| Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
| Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
| Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
| St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
| Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
| Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
| Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly damaging |
Het |
|
| Other mutations in Armc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Armc10
|
APN |
5 |
21,866,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02296:Armc10
|
APN |
5 |
21,865,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0220:Armc10
|
UTSW |
5 |
21,866,582 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0308:Armc10
|
UTSW |
5 |
21,852,295 (GRCm39) |
intron |
probably benign |
|
|
R1757:Armc10
|
UTSW |
5 |
21,858,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Armc10
|
UTSW |
5 |
21,866,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Armc10
|
UTSW |
5 |
21,858,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Armc10
|
UTSW |
5 |
21,866,548 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4741:Armc10
|
UTSW |
5 |
21,856,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Armc10
|
UTSW |
5 |
21,866,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Armc10
|
UTSW |
5 |
21,858,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5988:Armc10
|
UTSW |
5 |
21,865,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Armc10
|
UTSW |
5 |
21,858,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7212:Armc10
|
UTSW |
5 |
21,865,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8063:Armc10
|
UTSW |
5 |
21,853,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8715:Armc10
|
UTSW |
5 |
21,858,516 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2014-01-21 |
Incidental Mutation