Incidental Mutation 'IGL02333:Klhdc7a'
| ID |
288782 |
| 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 # |
IGL02333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139689484-139695337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139694467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 160
(H160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105031]
|
| AlphaFold |
A2APT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105031
AA Change: H160L
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: H160L
| 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 |
|---|
| Ace |
G |
A |
11: 105,862,273 (GRCm39) |
V276I |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,397,804 (GRCm39) |
W289R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,551 (GRCm39) |
S19P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,527,544 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
G |
A |
13: 45,720,680 (GRCm39) |
S405F |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,919,450 (GRCm39) |
Y386C |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,575,334 (GRCm39) |
L643* |
probably null |
Het |
| Ccl22 |
T |
A |
8: 95,476,507 (GRCm39) |
L91Q |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,743,855 (GRCm39) |
Y81H |
probably benign |
Het |
| Col5a3 |
C |
A |
9: 20,710,602 (GRCm39) |
R549M |
unknown |
Het |
| Eif3e |
A |
T |
15: 43,129,533 (GRCm39) |
N198K |
probably benign |
Het |
| Emp2 |
A |
G |
16: 10,102,375 (GRCm39) |
Y146H |
probably damaging |
Het |
| Impg1 |
G |
A |
9: 80,322,808 (GRCm39) |
L66F |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,564 (GRCm39) |
|
probably benign |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,243 (GRCm39) |
Y187H |
probably damaging |
Het |
| Klhl2 |
G |
A |
8: 65,212,784 (GRCm39) |
R252W |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,021 (GRCm39) |
T595I |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,811,637 (GRCm39) |
D1887Y |
possibly damaging |
Het |
| Olfm4 |
C |
T |
14: 80,259,210 (GRCm39) |
T453I |
probably damaging |
Het |
| Sin3a |
A |
G |
9: 57,014,843 (GRCm39) |
N688S |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,260,950 (GRCm39) |
V150A |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,724 (GRCm39) |
L2234P |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,539 (GRCm39) |
V166M |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,639,463 (GRCm39) |
F156L |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,143 (GRCm39) |
F795Y |
probably damaging |
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 |
|
IGL01719:Klhdc7a
|
APN |
4 |
139,693,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation