Incidental Mutation 'IGL02440:Klhdc2'
| ID |
293417 |
| 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 # |
IGL02440
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69343455-69357461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69350414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 153
(Y153C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021362]
|
| AlphaFold |
Q4G5Y1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021362
AA Change: Y153C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978
AA Change: Y153C
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,777 (GRCm39) |
|
probably benign |
Het |
| Bmt2 |
C |
T |
6: 13,628,609 (GRCm39) |
R358Q |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,114,259 (GRCm39) |
I182T |
probably benign |
Het |
| Calr3 |
T |
C |
8: 73,185,276 (GRCm39) |
T100A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,181,954 (GRCm39) |
K36R |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,468,974 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,899 (GRCm39) |
V1677E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,883 (GRCm39) |
E1684G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,846,072 (GRCm39) |
S2989P |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,034,635 (GRCm39) |
T1845S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,383,312 (GRCm39) |
N478K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,139 (GRCm39) |
I328V |
probably damaging |
Het |
| Itln1 |
C |
T |
1: 171,359,097 (GRCm39) |
A128T |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,861,713 (GRCm39) |
T97A |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,410,272 (GRCm39) |
K1322R |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,350,813 (GRCm39) |
M1K |
probably null |
Het |
| Mtor |
T |
A |
4: 148,630,886 (GRCm39) |
M2281K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,576,104 (GRCm39) |
N1378K |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,254,022 (GRCm39) |
R557H |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,296,244 (GRCm39) |
|
probably null |
Het |
| Or2r3 |
T |
C |
6: 42,449,100 (GRCm39) |
D4G |
probably benign |
Het |
| Or2t46 |
A |
T |
11: 58,472,035 (GRCm39) |
M122L |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,374 (GRCm39) |
F257I |
probably damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,223 (GRCm39) |
M117K |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,699,052 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,626,700 (GRCm39) |
T582A |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,428,458 (GRCm39) |
E509D |
probably benign |
Het |
| Poln |
A |
T |
5: 34,286,474 (GRCm39) |
D231E |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,223,881 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,747 (GRCm39) |
S263P |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,573,194 (GRCm39) |
A574V |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,058,310 (GRCm39) |
I152T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,145,293 (GRCm39) |
I391V |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,781,720 (GRCm39) |
E80G |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,364 (GRCm39) |
Y409H |
probably benign |
Het |
| Zfp691 |
T |
G |
4: 119,027,493 (GRCm39) |
R246S |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,796 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Klhdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Klhdc2
|
APN |
12 |
69,350,308 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation