Incidental Mutation 'IGL01719:Klhdc7a'
ID |
105032 |
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 # |
IGL01719
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
139689484-139695337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139693861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 362
(L362P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105031]
|
AlphaFold |
A2APT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105031
AA Change: L362P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000100648 Gene: ENSMUSG00000078234 AA Change: L362P
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,328,081 (GRCm39) |
V366A |
probably benign |
Het |
Antxr2 |
C |
T |
5: 98,096,132 (GRCm39) |
R384Q |
possibly damaging |
Het |
Cdh13 |
G |
A |
8: 119,401,927 (GRCm39) |
V110M |
probably benign |
Het |
Ctnna2 |
T |
A |
6: 77,613,958 (GRCm39) |
K198* |
probably null |
Het |
Dpf3 |
C |
A |
12: 83,341,207 (GRCm39) |
S223I |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,555 (GRCm39) |
R52G |
probably damaging |
Het |
Gm4787 |
G |
A |
12: 81,423,948 (GRCm39) |
R737C |
possibly damaging |
Het |
Grin2b |
T |
A |
6: 135,710,379 (GRCm39) |
I1056F |
probably damaging |
Het |
H2al2a |
T |
A |
2: 18,001,446 (GRCm39) |
H80L |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,267,434 (GRCm39) |
H601R |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,006,267 (GRCm39) |
L955P |
probably damaging |
Het |
Jund |
C |
T |
8: 71,151,885 (GRCm39) |
A60V |
possibly damaging |
Het |
Lpar5 |
T |
G |
6: 125,058,969 (GRCm39) |
V230G |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,234,903 (GRCm39) |
|
probably benign |
Het |
Or11g24 |
T |
C |
14: 50,662,018 (GRCm39) |
F14S |
possibly damaging |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Plekha5 |
A |
C |
6: 140,515,855 (GRCm39) |
E702D |
probably damaging |
Het |
Ppt1 |
A |
G |
4: 122,737,860 (GRCm39) |
Y66C |
probably damaging |
Het |
S1pr5 |
C |
A |
9: 21,155,250 (GRCm39) |
R392L |
probably benign |
Het |
Slc37a2 |
T |
C |
9: 37,145,474 (GRCm39) |
T410A |
probably damaging |
Het |
St18 |
A |
G |
1: 6,916,020 (GRCm39) |
|
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,865 (GRCm39) |
M249K |
probably benign |
Het |
Vwa5b2 |
T |
C |
16: 20,416,183 (GRCm39) |
|
probably null |
Het |
Zan |
T |
A |
5: 137,393,916 (GRCm39) |
T4512S |
unknown |
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 |
IGL01588:Klhdc7a
|
APN |
4 |
139,694,257 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01593:Klhdc7a
|
APN |
4 |
139,694,125 (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 |
2014-01-21 |