Incidental Mutation 'R1280:Klhdc7a'
| ID |
150998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc7a
|
| Ensembl Gene |
ENSMUSG00000078234 |
| Gene Name |
kelch domain containing 7A |
| Synonyms |
B230308G19Rik |
| MMRRC Submission |
039346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1280 (G1)
|
| Quality Score |
188 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139689484-139695337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139692764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 728
(R728C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105031]
|
| AlphaFold |
A2APT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105031
AA Change: R728C
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: R728C
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp5mc3 |
G |
T |
2: 73,739,714 (GRCm39) |
T42K |
possibly damaging |
Het |
| Brd2 |
T |
C |
17: 34,333,124 (GRCm39) |
M60V |
possibly damaging |
Het |
| Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
| Cers6 |
G |
A |
2: 68,899,033 (GRCm39) |
V224I |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,289,496 (GRCm39) |
S326F |
probably damaging |
Het |
| Fez1 |
GACAAACA |
GACA |
9: 36,781,845 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,871,671 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 12,787,010 (GRCm39) |
L20Q |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,054,185 (GRCm39) |
Y45C |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,938,749 (GRCm39) |
K508E |
probably damaging |
Het |
| Socs4 |
A |
T |
14: 47,528,370 (GRCm39) |
Q435L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 112,005,842 (GRCm39) |
V905A |
probably damaging |
Het |
| Tekt4 |
T |
A |
17: 25,690,861 (GRCm39) |
W56R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,608,508 (GRCm39) |
I16059N |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,283 (GRCm39) |
V269A |
possibly damaging |
Het |
| Vps54 |
T |
A |
11: 21,227,868 (GRCm39) |
I273N |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,545,852 (GRCm39) |
K1319R |
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 |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGAATCCTGATGGAGCCCAGC -3'
(R):5'- CGATACATTTGCCCTGGCACACAC -3'
Sequencing Primer
(F):5'- AGCTGAGGGACTGCTAGAC -3'
(R):5'- GATTCTCGACCCAGGAACAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation