Incidental Mutation 'IGL00910:Ankrd34c'
ID |
28138 |
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: 0.062)
|
Stock # |
IGL00910
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
89607298-89620528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89611079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 421
(S421T)
|
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: S421T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000056787 Gene: ENSMUSG00000047606 AA Change: S421T
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: S421T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140919 Gene: ENSMUSG00000047606 AA Change: S421T
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 |
5031439G07Rik |
A |
G |
15: 84,840,020 (GRCm39) |
L109P |
probably damaging |
Het |
Aacs |
T |
A |
5: 125,585,772 (GRCm39) |
M316K |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,722,469 (GRCm39) |
V375A |
probably damaging |
Het |
Adgra2 |
C |
A |
8: 27,576,011 (GRCm39) |
A13E |
possibly damaging |
Het |
Bpifa6 |
A |
T |
2: 153,832,386 (GRCm39) |
M298L |
probably benign |
Het |
Casq2 |
T |
C |
3: 102,017,547 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,406,395 (GRCm39) |
T762A |
probably benign |
Het |
Dhx38 |
A |
G |
8: 110,285,666 (GRCm39) |
V389A |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,105,889 (GRCm39) |
|
probably benign |
Het |
Dnajc7 |
A |
T |
11: 100,490,017 (GRCm39) |
F79L |
possibly damaging |
Het |
Dyrk3 |
A |
G |
1: 131,064,073 (GRCm39) |
I3T |
possibly damaging |
Het |
Fchsd2 |
T |
C |
7: 100,926,833 (GRCm39) |
I641T |
probably benign |
Het |
Furin |
A |
G |
7: 80,040,744 (GRCm39) |
V698A |
probably benign |
Het |
Lratd1 |
T |
C |
12: 14,200,527 (GRCm39) |
S67G |
probably benign |
Het |
Prl2c5 |
G |
A |
13: 13,364,061 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,559,279 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
G |
T |
12: 103,618,224 (GRCm39) |
|
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,722,728 (GRCm39) |
Y575C |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,393,887 (GRCm39) |
E19G |
probably damaging |
Het |
Tsfm |
G |
T |
10: 126,864,228 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ankrd34c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Ankrd34c
|
APN |
9 |
89,611,879 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01683:Ankrd34c
|
APN |
9 |
89,611,850 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
2013-04-17 |