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 |
Incidental Mutation