Incidental Mutation 'R4242:Klhdc7a'
| ID |
320247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc7a
|
| Ensembl Gene |
ENSMUSG00000078234 |
| Gene Name |
kelch domain containing 7A |
| Synonyms |
B230308G19Rik |
| MMRRC Submission |
041059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139689484-139695337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139694032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 305
(P305L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105031]
|
| AlphaFold |
A2APT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105031
AA Change: P305L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: P305L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
C |
T |
5: 105,109,079 (GRCm39) |
R406H |
probably benign |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col6a2 |
C |
T |
10: 76,443,940 (GRCm39) |
|
probably null |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,065,939 (GRCm39) |
T355A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,045,297 (GRCm39) |
C148Y |
possibly damaging |
Het |
| Faim2 |
T |
A |
15: 99,398,082 (GRCm39) |
I289F |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,755 (GRCm39) |
S113P |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,064,351 (GRCm39) |
S1879P |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,564 (GRCm39) |
G64C |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,820 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
C |
A |
14: 22,077,303 (GRCm39) |
Y13* |
probably null |
Het |
| Mad2l1bp |
T |
C |
17: 46,463,913 (GRCm39) |
E37G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,771 (GRCm39) |
S265P |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,313,968 (GRCm39) |
D99V |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,362,719 (GRCm39) |
G1302D |
possibly damaging |
Het |
| Odaph |
A |
G |
5: 92,142,749 (GRCm39) |
I104V |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,666 (GRCm39) |
V180A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,480 (GRCm39) |
I8F |
possibly damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,149,374 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,226,528 (GRCm39) |
H764Y |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,727 (GRCm39) |
F375S |
probably damaging |
Het |
| Spanxn4 |
T |
C |
12: 62,734,983 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1 |
T |
C |
X: 100,588,109 (GRCm39) |
I457T |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,705 (GRCm39) |
M233L |
probably benign |
Het |
| Trpv3 |
T |
C |
11: 73,168,649 (GRCm39) |
I72T |
probably benign |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,311,857 (GRCm39) |
F188I |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,791,672 (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 |
|
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 |
|
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'- GGCTCACCTTTCTGCTGAAG -3'
(R):5'- GGATCTTCACCCACATGACAGG -3'
Sequencing Primer
(F):5'- TTTCTGCTGAAGCCCGG -3'
(R):5'- AGGCTGCTGCAGACATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation