Incidental Mutation 'IGL01588:Klhdc7a'
ID |
91501 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhdc7a
|
Ensembl Gene |
ENSMUSG00000078234 |
Gene Name |
kelch domain containing 7A |
Synonyms |
B230308G19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01588
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
139689484-139695337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139694257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 230
(V230D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105031]
|
AlphaFold |
A2APT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105031
AA Change: V230D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000100648 Gene: ENSMUSG00000078234 AA Change: V230D
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
low complexity region
|
81 |
93 |
N/A |
INTRINSIC |
low complexity region
|
339 |
354 |
N/A |
INTRINSIC |
Kelch
|
537 |
585 |
4.83e-2 |
SMART |
Kelch
|
586 |
631 |
4.98e-4 |
SMART |
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158669
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aspm |
T |
A |
1: 139,405,900 (GRCm39) |
S1596T |
probably benign |
Het |
Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
Csn2 |
T |
C |
5: 87,842,508 (GRCm39) |
H165R |
probably benign |
Het |
Dido1 |
A |
G |
2: 180,330,668 (GRCm39) |
V260A |
probably benign |
Het |
Ece1 |
C |
T |
4: 137,684,517 (GRCm39) |
|
probably benign |
Het |
Garem1 |
T |
G |
18: 21,262,854 (GRCm39) |
R653S |
probably damaging |
Het |
Gpatch2 |
A |
T |
1: 186,962,991 (GRCm39) |
S261C |
probably damaging |
Het |
Ing4 |
A |
G |
6: 125,020,949 (GRCm39) |
N24D |
possibly damaging |
Het |
Ly96 |
G |
A |
1: 16,779,678 (GRCm39) |
V116I |
probably benign |
Het |
Myom1 |
C |
T |
17: 71,424,432 (GRCm39) |
T1427M |
possibly damaging |
Het |
Nedd1 |
C |
A |
10: 92,522,124 (GRCm39) |
V638L |
probably benign |
Het |
Or52d3 |
C |
T |
7: 104,229,150 (GRCm39) |
S99F |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,417 (GRCm39) |
V117A |
probably benign |
Het |
Or8g30 |
G |
A |
9: 39,230,128 (GRCm39) |
Q261* |
probably null |
Het |
Pbx2 |
T |
C |
17: 34,814,592 (GRCm39) |
|
probably benign |
Het |
Phlpp1 |
A |
T |
1: 106,308,119 (GRCm39) |
H1132L |
probably damaging |
Het |
Plpp5 |
T |
A |
8: 26,214,195 (GRCm39) |
H237Q |
probably damaging |
Het |
Stard13 |
C |
T |
5: 150,968,702 (GRCm39) |
R856H |
probably damaging |
Het |
Sult1e1 |
T |
C |
5: 87,724,102 (GRCm39) |
K285R |
probably benign |
Het |
Ubxn8 |
C |
T |
8: 34,111,587 (GRCm39) |
V269M |
probably damaging |
Het |
Usp29 |
A |
T |
7: 6,965,610 (GRCm39) |
K484N |
probably benign |
Het |
Whrn |
C |
T |
4: 63,391,015 (GRCm39) |
V80M |
probably damaging |
Het |
Znhit6 |
A |
G |
3: 145,301,962 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Klhdc7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Klhdc7a
|
APN |
4 |
139,694,236 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01593:Klhdc7a
|
APN |
4 |
139,694,125 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01719:Klhdc7a
|
APN |
4 |
139,693,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02333:Klhdc7a
|
APN |
4 |
139,694,467 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02481:Klhdc7a
|
APN |
4 |
139,693,121 (GRCm39) |
missense |
probably benign |
0.25 |
R0153:Klhdc7a
|
UTSW |
4 |
139,694,582 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0385:Klhdc7a
|
UTSW |
4 |
139,694,016 (GRCm39) |
missense |
probably benign |
|
R1280:Klhdc7a
|
UTSW |
4 |
139,692,764 (GRCm39) |
missense |
probably benign |
0.01 |
R1456:Klhdc7a
|
UTSW |
4 |
139,692,835 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1837:Klhdc7a
|
UTSW |
4 |
139,694,381 (GRCm39) |
missense |
probably benign |
0.31 |
R1838:Klhdc7a
|
UTSW |
4 |
139,694,381 (GRCm39) |
missense |
probably benign |
0.31 |
R1987:Klhdc7a
|
UTSW |
4 |
139,693,335 (GRCm39) |
nonsense |
probably null |
|
R2172:Klhdc7a
|
UTSW |
4 |
139,693,121 (GRCm39) |
missense |
probably benign |
0.25 |
R2220:Klhdc7a
|
UTSW |
4 |
139,692,764 (GRCm39) |
missense |
probably benign |
0.01 |
R3154:Klhdc7a
|
UTSW |
4 |
139,693,024 (GRCm39) |
missense |
probably benign |
0.20 |
R3155:Klhdc7a
|
UTSW |
4 |
139,694,500 (GRCm39) |
missense |
probably benign |
0.01 |
R4242:Klhdc7a
|
UTSW |
4 |
139,694,032 (GRCm39) |
missense |
probably benign |
0.01 |
R4349:Klhdc7a
|
UTSW |
4 |
139,693,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5859:Klhdc7a
|
UTSW |
4 |
139,694,885 (GRCm39) |
missense |
probably damaging |
0.96 |
R6316:Klhdc7a
|
UTSW |
4 |
139,694,113 (GRCm39) |
missense |
probably benign |
0.00 |
R6342:Klhdc7a
|
UTSW |
4 |
139,694,370 (GRCm39) |
missense |
probably benign |
0.09 |
R6755:Klhdc7a
|
UTSW |
4 |
139,693,786 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7528:Klhdc7a
|
UTSW |
4 |
139,694,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R7648:Klhdc7a
|
UTSW |
4 |
139,693,250 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7842:Klhdc7a
|
UTSW |
4 |
139,694,549 (GRCm39) |
missense |
probably damaging |
0.97 |
R7843:Klhdc7a
|
UTSW |
4 |
139,694,155 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7992:Klhdc7a
|
UTSW |
4 |
139,693,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R8476:Klhdc7a
|
UTSW |
4 |
139,693,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R8874:Klhdc7a
|
UTSW |
4 |
139,694,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R9334:Klhdc7a
|
UTSW |
4 |
139,693,493 (GRCm39) |
missense |
probably benign |
0.14 |
X0002:Klhdc7a
|
UTSW |
4 |
139,693,675 (GRCm39) |
small deletion |
probably benign |
|
Z1176:Klhdc7a
|
UTSW |
4 |
139,695,108 (GRCm39) |
start gained |
probably benign |
|
Z1177:Klhdc7a
|
UTSW |
4 |
139,694,311 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Klhdc7a
|
UTSW |
4 |
139,692,973 (GRCm39) |
missense |
probably benign |
0.14 |
Z1187:Klhdc7a
|
UTSW |
4 |
139,693,852 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1190:Klhdc7a
|
UTSW |
4 |
139,693,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |