Incidental Mutation 'IGL00900:Klhdc2'
ID |
28696 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhdc2
|
Ensembl Gene |
ENSMUSG00000020978 |
Gene Name |
kelch domain containing 2 |
Synonyms |
D12Ertd522e, HCLP-1, 2310022K15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00900
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69343455-69357461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69350308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 118
(F118I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021362]
|
AlphaFold |
Q4G5Y1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021362
AA Change: F118I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021362 Gene: ENSMUSG00000020978 AA Change: F118I
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
117 |
3.66e-6 |
PROSPERO |
internal_repeat_2
|
66 |
163 |
6.25e-5 |
PROSPERO |
Pfam:Kelch_1
|
217 |
258 |
1.4e-6 |
PFAM |
Pfam:Kelch_2
|
217 |
262 |
1.2e-7 |
PFAM |
Pfam:Kelch_4
|
217 |
266 |
8.4e-8 |
PFAM |
Pfam:Kelch_3
|
227 |
276 |
5.1e-9 |
PFAM |
Pfam:Kelch_5
|
265 |
305 |
1.4e-6 |
PFAM |
Pfam:Kelch_4
|
267 |
310 |
2e-9 |
PFAM |
Pfam:Kelch_3
|
278 |
326 |
1.4e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138585
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154667
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,361,383 (GRCm39) |
|
probably benign |
Het |
Agap3 |
G |
A |
5: 24,681,366 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,933,887 (GRCm39) |
Y220H |
probably benign |
Het |
Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 106,983,952 (GRCm39) |
M797V |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
Oxsm |
A |
G |
14: 16,242,023 (GRCm38) |
S249P |
probably damaging |
Het |
Pabpc4l |
T |
A |
3: 46,401,507 (GRCm39) |
I46F |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
Het |
|
Other mutations in Klhdc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Klhdc2
|
APN |
12 |
69,353,987 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01024:Klhdc2
|
APN |
12 |
69,352,610 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01457:Klhdc2
|
APN |
12 |
69,343,827 (GRCm39) |
missense |
probably benign |
|
IGL01735:Klhdc2
|
APN |
12 |
69,347,053 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01913:Klhdc2
|
APN |
12 |
69,349,132 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02440:Klhdc2
|
APN |
12 |
69,350,414 (GRCm39) |
missense |
probably damaging |
1.00 |
Dixit_dominus
|
UTSW |
12 |
69,355,750 (GRCm39) |
nonsense |
probably null |
|
R0611:Klhdc2
|
UTSW |
12 |
69,347,053 (GRCm39) |
missense |
probably benign |
0.22 |
R0724:Klhdc2
|
UTSW |
12 |
69,343,822 (GRCm39) |
missense |
probably benign |
|
R1350:Klhdc2
|
UTSW |
12 |
69,352,484 (GRCm39) |
critical splice donor site |
probably null |
|
R1796:Klhdc2
|
UTSW |
12 |
69,347,071 (GRCm39) |
critical splice donor site |
probably null |
|
R1907:Klhdc2
|
UTSW |
12 |
69,343,734 (GRCm39) |
start gained |
probably benign |
|
R4418:Klhdc2
|
UTSW |
12 |
69,354,371 (GRCm39) |
unclassified |
probably benign |
|
R5119:Klhdc2
|
UTSW |
12 |
69,343,736 (GRCm39) |
utr 5 prime |
probably benign |
|
R5586:Klhdc2
|
UTSW |
12 |
69,354,467 (GRCm39) |
splice site |
probably null |
|
R5987:Klhdc2
|
UTSW |
12 |
69,350,387 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6448:Klhdc2
|
UTSW |
12 |
69,350,694 (GRCm39) |
missense |
probably benign |
|
R6848:Klhdc2
|
UTSW |
12 |
69,355,750 (GRCm39) |
nonsense |
probably null |
|
R7824:Klhdc2
|
UTSW |
12 |
69,354,002 (GRCm39) |
missense |
probably damaging |
0.98 |
R7844:Klhdc2
|
UTSW |
12 |
69,349,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R7886:Klhdc2
|
UTSW |
12 |
69,351,406 (GRCm39) |
splice site |
probably null |
|
R8963:Klhdc2
|
UTSW |
12 |
69,347,065 (GRCm39) |
nonsense |
probably null |
|
R9775:Klhdc2
|
UTSW |
12 |
69,350,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R9790:Klhdc2
|
UTSW |
12 |
69,346,995 (GRCm39) |
missense |
probably benign |
0.01 |
R9791:Klhdc2
|
UTSW |
12 |
69,346,995 (GRCm39) |
missense |
probably benign |
0.01 |
RF016:Klhdc2
|
UTSW |
12 |
69,350,660 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2013-04-17 |