Incidental Mutation 'R8476:Klhdc7a'
ID |
657254 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc7a
|
Ensembl Gene |
ENSMUSG00000078234 |
Gene Name |
kelch domain containing 7A |
Synonyms |
B230308G19Rik |
MMRRC Submission |
067920-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8476 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139689484-139695337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 139693051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 632
(I632S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105031]
|
AlphaFold |
A2APT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105031
AA Change: I632S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100648 Gene: ENSMUSG00000078234 AA Change: I632S
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 |
|
Meta Mutation Damage Score |
0.6318 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,410,020 (GRCm39) |
I176F |
possibly damaging |
Het |
Aen |
A |
G |
7: 78,556,947 (GRCm39) |
Y123C |
probably damaging |
Het |
Ahnak2 |
C |
T |
12: 112,747,100 (GRCm39) |
|
probably benign |
Het |
Anks1 |
T |
A |
17: 28,273,292 (GRCm39) |
D970E |
probably damaging |
Het |
Atn1 |
C |
A |
6: 124,723,416 (GRCm39) |
|
probably benign |
Het |
Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
Ccdc172 |
T |
A |
19: 58,541,270 (GRCm39) |
|
probably null |
Het |
Ceacam11 |
T |
C |
7: 17,707,618 (GRCm39) |
I134T |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,263,235 (GRCm39) |
S73P |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,408,015 (GRCm39) |
I1939T |
probably benign |
Het |
Dclk1 |
A |
T |
3: 55,441,100 (GRCm39) |
E432V |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,588,693 (GRCm39) |
K439E |
probably damaging |
Het |
Krt72 |
A |
T |
15: 101,686,701 (GRCm39) |
M415K |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,326 (GRCm39) |
H82L |
probably benign |
Het |
Morc2b |
T |
A |
17: 33,354,833 (GRCm39) |
T980S |
possibly damaging |
Het |
Mta2 |
T |
A |
19: 8,928,352 (GRCm39) |
N550K |
probably benign |
Het |
Or51f1 |
A |
T |
7: 102,506,152 (GRCm39) |
F112L |
probably benign |
Het |
Or6d13 |
T |
A |
6: 116,517,507 (GRCm39) |
I31N |
probably benign |
Het |
Pask |
A |
G |
1: 93,249,361 (GRCm39) |
W680R |
probably benign |
Het |
Pcdhb13 |
A |
T |
18: 37,577,137 (GRCm39) |
N505I |
probably damaging |
Het |
Pik3cd |
A |
T |
4: 149,736,277 (GRCm39) |
M984K |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,251,317 (GRCm39) |
Y520C |
probably damaging |
Het |
Pum1 |
A |
G |
4: 130,480,024 (GRCm39) |
S547G |
possibly damaging |
Het |
Rabep2 |
C |
T |
7: 126,034,915 (GRCm39) |
R64* |
probably null |
Het |
Rfxank |
T |
C |
8: 70,590,828 (GRCm39) |
N13S |
probably benign |
Het |
Sall3 |
G |
T |
18: 81,015,333 (GRCm39) |
S865* |
probably null |
Het |
Scaper |
T |
A |
9: 55,669,575 (GRCm39) |
D854V |
probably damaging |
Het |
Slit3 |
G |
A |
11: 35,520,596 (GRCm39) |
D578N |
possibly damaging |
Het |
Smarcd1 |
G |
T |
15: 99,600,305 (GRCm39) |
G35W |
probably damaging |
Het |
Trim24 |
C |
T |
6: 37,922,578 (GRCm39) |
Q462* |
probably null |
Het |
Ube3a |
C |
T |
7: 58,954,575 (GRCm39) |
T837I |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,699,821 (GRCm39) |
I740M |
possibly 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 |
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 |
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'- TAAGGTAAGCGGTATGTGGC -3'
(R):5'- AATCTGGAGTGAGGTGTGCC -3'
Sequencing Primer
(F):5'- ACTCATACCAGAGCCGGGTG -3'
(R):5'- AGTGAGGTGTGCCCACTGAAC -3'
|
Posted On |
2021-01-18 |