Incidental Mutation 'IGL01683:Ankrd34c'
| ID |
103866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd34c
|
| Ensembl Gene |
ENSMUSG00000047606 |
| Gene Name |
ankyrin repeat domain 34C |
| Synonyms |
B230218L05Rik, LOC330998 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
89607298-89620528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89611850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 164
(T164A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060700]
[ENSMUST00000185470]
|
| AlphaFold |
Q8BLB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060700
AA Change: T164A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
10 |
39 |
1.16e3 |
SMART |
|
ANK
|
43 |
80 |
1.46e-2 |
SMART |
|
ANK
|
84 |
114 |
1.52e0 |
SMART |
|
ANK
|
118 |
147 |
1.33e2 |
SMART |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185470
AA Change: T164A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
10 |
39 |
1.16e3 |
SMART |
|
ANK
|
43 |
80 |
1.46e-2 |
SMART |
|
ANK
|
84 |
114 |
1.52e0 |
SMART |
|
ANK
|
118 |
147 |
1.33e2 |
SMART |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
474 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,214,288 (GRCm39) |
L188Q |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,801,091 (GRCm39) |
I446F |
possibly damaging |
Het |
| Bsn |
C |
A |
9: 107,992,095 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Cdk2ap1 |
C |
T |
5: 124,488,242 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,679,733 (GRCm39) |
F409L |
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,584,112 (GRCm39) |
A499T |
probably benign |
Het |
| Foxm1 |
T |
G |
6: 128,350,451 (GRCm39) |
I584S |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,415,963 (GRCm39) |
I199T |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,815 (GRCm39) |
A149S |
probably benign |
Het |
| H2-M2 |
A |
T |
17: 37,792,406 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,501,069 (GRCm39) |
|
probably benign |
Het |
| Os9 |
A |
G |
10: 126,935,972 (GRCm39) |
Y258H |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,862 (GRCm39) |
F337S |
possibly damaging |
Het |
| Pla2g4a |
T |
G |
1: 149,733,405 (GRCm39) |
Y448S |
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,952,091 (GRCm39) |
V239D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,747,148 (GRCm39) |
Y903H |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,534,611 (GRCm39) |
H1752Q |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,428 (GRCm39) |
R750Q |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,260,530 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,355,036 (GRCm39) |
N1245S |
probably benign |
Het |
|
| Other mutations in Ankrd34c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Ankrd34c
|
APN |
9 |
89,611,079 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01630:Ankrd34c
|
APN |
9 |
89,611,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01886:Ankrd34c
|
APN |
9 |
89,612,318 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02323:Ankrd34c
|
APN |
9 |
89,612,033 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02679:Ankrd34c
|
APN |
9 |
89,612,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Ankrd34c
|
APN |
9 |
89,611,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03008:Ankrd34c
|
APN |
9 |
89,612,337 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
|
R0024:Ankrd34c
|
UTSW |
9 |
89,611,580 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0107:Ankrd34c
|
UTSW |
9 |
89,611,537 (GRCm39) |
missense |
probably benign |
|
|
R1602:Ankrd34c
|
UTSW |
9 |
89,611,058 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1879:Ankrd34c
|
UTSW |
9 |
89,612,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4114:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4115:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Ankrd34c
|
UTSW |
9 |
89,611,817 (GRCm39) |
nonsense |
probably null |
|
|
R5012:Ankrd34c
|
UTSW |
9 |
89,611,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Ankrd34c
|
UTSW |
9 |
89,611,759 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5747:Ankrd34c
|
UTSW |
9 |
89,611,814 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6766:Ankrd34c
|
UTSW |
9 |
89,611,381 (GRCm39) |
missense |
probably benign |
|
|
R7011:Ankrd34c
|
UTSW |
9 |
89,611,001 (GRCm39) |
nonsense |
probably null |
|
|
R7614:Ankrd34c
|
UTSW |
9 |
89,610,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7651:Ankrd34c
|
UTSW |
9 |
89,611,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8006:Ankrd34c
|
UTSW |
9 |
89,611,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Ankrd34c
|
UTSW |
9 |
89,610,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Ankrd34c
|
UTSW |
9 |
89,611,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8891:Ankrd34c
|
UTSW |
9 |
89,612,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Ankrd34c
|
UTSW |
9 |
89,610,940 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9361:Ankrd34c
|
UTSW |
9 |
89,612,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9392:Ankrd34c
|
UTSW |
9 |
89,611,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0022:Ankrd34c
|
UTSW |
9 |
89,611,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation