Incidental Mutation 'IGL02322:Acd'
ID |
288280 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acd
|
Ensembl Gene |
ENSMUSG00000038000 |
Gene Name |
adrenocortical dysplasia |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.500)
|
Stock # |
IGL02322
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106424789-106427748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106425268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 355
(A355V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000062574]
[ENSMUST00000093195]
[ENSMUST00000098444]
[ENSMUST00000211870]
[ENSMUST00000211888]
[ENSMUST00000212352]
[ENSMUST00000212642]
[ENSMUST00000213019]
[ENSMUST00000212430]
[ENSMUST00000212650]
|
AlphaFold |
Q5EE38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042608
AA Change: A355V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000048180 Gene: ENSMUSG00000038000 AA Change: A355V
Domain | Start | End | E-Value | Type |
Pfam:TPP1
|
11 |
118 |
2.4e-23 |
PFAM |
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
low complexity region
|
296 |
319 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000062574
|
SMART Domains |
Protein: ENSMUSP00000052322 Gene: ENSMUSG00000050357
Domain | Start | End | E-Value | Type |
Pfam:CARMIL_C
|
149 |
442 |
3.3e-62 |
PFAM |
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
low complexity region
|
631 |
659 |
N/A |
INTRINSIC |
low complexity region
|
696 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093195
|
SMART Domains |
Protein: ENSMUSP00000090886 Gene: ENSMUSG00000005699
Domain | Start | End | E-Value | Type |
PB1
|
15 |
95 |
2.81e-15 |
SMART |
PDZ
|
167 |
250 |
1.38e-12 |
SMART |
low complexity region
|
263 |
286 |
N/A |
INTRINSIC |
low complexity region
|
309 |
323 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098444
|
SMART Domains |
Protein: ENSMUSP00000096043 Gene: ENSMUSG00000005699
Domain | Start | End | E-Value | Type |
PB1
|
4 |
79 |
1.28e-9 |
SMART |
PDZ
|
151 |
234 |
1.38e-12 |
SMART |
low complexity region
|
247 |
270 |
N/A |
INTRINSIC |
low complexity region
|
293 |
307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211870
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211888
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212687
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213019
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212430
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
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 is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
G |
8: 25,445,990 (GRCm39) |
V801A |
probably damaging |
Het |
Ankrd36 |
T |
A |
11: 5,564,619 (GRCm39) |
V479D |
possibly damaging |
Het |
Arid5a |
C |
T |
1: 36,358,497 (GRCm39) |
P423L |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,258,920 (GRCm39) |
I650V |
probably benign |
Het |
B4gat1 |
C |
A |
19: 5,089,155 (GRCm39) |
P51T |
possibly damaging |
Het |
Caskin2 |
G |
A |
11: 115,695,303 (GRCm39) |
T310M |
probably damaging |
Het |
Ccdc121rt1 |
A |
G |
1: 181,337,999 (GRCm39) |
S318P |
possibly damaging |
Het |
Ccdc159 |
G |
T |
9: 21,840,669 (GRCm39) |
V79L |
possibly damaging |
Het |
Ccser2 |
A |
T |
14: 36,631,086 (GRCm39) |
V18E |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,722,581 (GRCm39) |
V432A |
probably benign |
Het |
Cdh11 |
A |
T |
8: 103,374,151 (GRCm39) |
F529Y |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,832,248 (GRCm39) |
E1370G |
probably damaging |
Het |
Col22a1 |
C |
A |
15: 71,694,502 (GRCm39) |
G717C |
unknown |
Het |
Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
Ctrb1 |
A |
C |
8: 112,415,951 (GRCm39) |
|
probably null |
Het |
Cyp2b19 |
T |
C |
7: 26,461,803 (GRCm39) |
S208P |
possibly damaging |
Het |
Dnmt3l |
T |
A |
10: 77,888,572 (GRCm39) |
I158N |
possibly damaging |
Het |
Evi5l |
T |
C |
8: 4,237,236 (GRCm39) |
|
probably benign |
Het |
Fkbpl |
A |
G |
17: 34,864,298 (GRCm39) |
E22G |
probably benign |
Het |
Flnb |
T |
A |
14: 7,894,676 (GRCm38) |
F825I |
probably damaging |
Het |
Gjb6 |
A |
T |
14: 57,361,732 (GRCm39) |
N176K |
probably damaging |
Het |
Gpc2 |
G |
T |
5: 138,274,499 (GRCm39) |
|
probably null |
Het |
H1f7 |
T |
C |
15: 98,154,757 (GRCm39) |
T131A |
possibly damaging |
Het |
Il20 |
C |
T |
1: 130,837,313 (GRCm39) |
C104Y |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,310,722 (GRCm39) |
N212S |
probably benign |
Het |
Olfm5 |
C |
T |
7: 103,803,608 (GRCm39) |
G210D |
probably damaging |
Het |
Olig2 |
T |
C |
16: 91,023,546 (GRCm39) |
S87P |
probably benign |
Het |
Or2y15 |
A |
G |
11: 49,350,784 (GRCm39) |
S93G |
probably benign |
Het |
Or4c121 |
T |
A |
2: 89,023,806 (GRCm39) |
T191S |
probably damaging |
Het |
Osbpl7 |
G |
T |
11: 96,946,950 (GRCm39) |
A418S |
probably benign |
Het |
Otog |
G |
T |
7: 45,950,881 (GRCm39) |
R2551L |
probably benign |
Het |
Oxt |
A |
T |
2: 130,418,200 (GRCm39) |
N24I |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,448,419 (GRCm39) |
Y626C |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,896,894 (GRCm39) |
K934* |
probably null |
Het |
Pramel14 |
G |
A |
4: 143,718,591 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,783,110 (GRCm39) |
N57K |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,872,251 (GRCm39) |
D195G |
possibly damaging |
Het |
Rimbp3 |
T |
G |
16: 17,029,479 (GRCm39) |
F968V |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,387,499 (GRCm39) |
N1047S |
possibly damaging |
Het |
Slc35g1 |
C |
T |
19: 38,389,013 (GRCm39) |
R107* |
probably null |
Het |
Ssh2 |
A |
C |
11: 77,307,239 (GRCm39) |
|
probably null |
Het |
Tiparp |
C |
A |
3: 65,439,441 (GRCm39) |
C70* |
probably null |
Het |
Vmn2r110 |
A |
G |
17: 20,794,197 (GRCm39) |
I824T |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,570,687 (GRCm39) |
S402P |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,845,183 (GRCm39) |
E2089G |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,082 (GRCm39) |
H441L |
probably benign |
Het |
Zdhhc3 |
C |
T |
9: 122,929,542 (GRCm39) |
G31D |
probably benign |
Het |
Zfp330 |
A |
G |
8: 83,497,450 (GRCm39) |
L64S |
probably damaging |
Het |
|
Other mutations in Acd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Acd
|
APN |
8 |
106,425,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R0613:Acd
|
UTSW |
8 |
106,427,200 (GRCm39) |
splice site |
probably null |
|
R1750:Acd
|
UTSW |
8 |
106,425,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1824:Acd
|
UTSW |
8 |
106,427,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Acd
|
UTSW |
8 |
106,425,039 (GRCm39) |
critical splice donor site |
probably null |
|
R2888:Acd
|
UTSW |
8 |
106,425,470 (GRCm39) |
missense |
probably benign |
0.08 |
R2945:Acd
|
UTSW |
8 |
106,426,927 (GRCm39) |
nonsense |
probably null |
|
R3001:Acd
|
UTSW |
8 |
106,426,913 (GRCm39) |
critical splice donor site |
probably null |
|
R3002:Acd
|
UTSW |
8 |
106,426,913 (GRCm39) |
critical splice donor site |
probably null |
|
R3003:Acd
|
UTSW |
8 |
106,426,913 (GRCm39) |
critical splice donor site |
probably null |
|
R4795:Acd
|
UTSW |
8 |
106,427,647 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4806:Acd
|
UTSW |
8 |
106,424,922 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6111:Acd
|
UTSW |
8 |
106,424,919 (GRCm39) |
missense |
probably benign |
0.04 |
R6236:Acd
|
UTSW |
8 |
106,427,127 (GRCm39) |
missense |
probably benign |
0.01 |
R7096:Acd
|
UTSW |
8 |
106,425,121 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8677:Acd
|
UTSW |
8 |
106,427,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R8995:Acd
|
UTSW |
8 |
106,427,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Acd
|
UTSW |
8 |
106,424,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R9307:Acd
|
UTSW |
8 |
106,425,514 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2015-04-16 |