Incidental Mutation 'IGL01678:Klhdc4'
ID |
103692 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhdc4
|
Ensembl Gene |
ENSMUSG00000040263 |
Gene Name |
kelch domain containing 4 |
Synonyms |
G430025P05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL01678
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122523677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 513
(D513G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045884]
[ENSMUST00000127664]
[ENSMUST00000167439]
[ENSMUST00000174192]
[ENSMUST00000174717]
[ENSMUST00000174665]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045884
AA Change: D513G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043439 Gene: ENSMUSG00000040263 AA Change: D513G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
Pfam:Kelch_4
|
63 |
118 |
8.3e-11 |
PFAM |
Pfam:Kelch_3
|
75 |
125 |
1.7e-9 |
PFAM |
Pfam:Kelch_6
|
118 |
174 |
2.4e-9 |
PFAM |
Pfam:Kelch_4
|
118 |
175 |
3e-8 |
PFAM |
Pfam:Kelch_3
|
131 |
185 |
2e-8 |
PFAM |
Pfam:Kelch_5
|
173 |
216 |
7.5e-9 |
PFAM |
Pfam:Kelch_3
|
186 |
239 |
2.1e-6 |
PFAM |
Pfam:Kelch_1
|
295 |
345 |
4.6e-6 |
PFAM |
Pfam:Kelch_2
|
295 |
349 |
2.1e-7 |
PFAM |
low complexity region
|
489 |
520 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167439
|
SMART Domains |
Protein: ENSMUSP00000126190 Gene: ENSMUSG00000025318
Domain | Start | End | E-Value | Type |
MORN
|
13 |
34 |
8.01e-1 |
SMART |
MORN
|
37 |
57 |
6.13e1 |
SMART |
MORN
|
59 |
80 |
2.99e-1 |
SMART |
Pfam:MORN
|
83 |
104 |
5.8e-2 |
PFAM |
MORN
|
105 |
126 |
8.1e-5 |
SMART |
MORN
|
128 |
149 |
2.74e-2 |
SMART |
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
low complexity region
|
212 |
244 |
N/A |
INTRINSIC |
MORN
|
286 |
307 |
2.78e-3 |
SMART |
MORN
|
309 |
330 |
1.03e-6 |
SMART |
low complexity region
|
360 |
381 |
N/A |
INTRINSIC |
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172954
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174192
AA Change: D456G
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134487 Gene: ENSMUSG00000040263 AA Change: D456G
Domain | Start | End | E-Value | Type |
Pfam:Kelch_3
|
32 |
70 |
1.5e-6 |
PFAM |
Pfam:Kelch_6
|
61 |
117 |
1.9e-8 |
PFAM |
Pfam:Kelch_4
|
61 |
118 |
6.9e-8 |
PFAM |
Pfam:Kelch_3
|
74 |
128 |
4.6e-8 |
PFAM |
Pfam:Kelch_5
|
116 |
159 |
1.4e-7 |
PFAM |
Pfam:Kelch_4
|
119 |
172 |
2.2e-6 |
PFAM |
Pfam:Kelch_3
|
129 |
182 |
7e-7 |
PFAM |
Pfam:Kelch_2
|
238 |
292 |
1.8e-7 |
PFAM |
low complexity region
|
432 |
463 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174206
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174717
AA Change: D482G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134361 Gene: ENSMUSG00000040263 AA Change: D482G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
Pfam:Kelch_4
|
63 |
117 |
1.4e-8 |
PFAM |
Pfam:Kelch_3
|
75 |
127 |
9.6e-11 |
PFAM |
Pfam:Kelch_4
|
118 |
170 |
2.3e-7 |
PFAM |
Pfam:Kelch_6
|
118 |
174 |
9.3e-9 |
PFAM |
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
Pfam:Kelch_2
|
264 |
318 |
2e-7 |
PFAM |
low complexity region
|
458 |
489 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174709
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174665
|
SMART Domains |
Protein: ENSMUSP00000134474 Gene: ENSMUSG00000040263
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
low complexity region
|
57 |
67 |
N/A |
INTRINSIC |
low complexity region
|
104 |
114 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
Zfp143 |
C |
A |
7: 109,679,558 (GRCm39) |
|
probably benign |
Het |
Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
probably damaging |
Het |
|
Other mutations in Klhdc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01100:Klhdc4
|
APN |
8 |
122,548,582 (GRCm39) |
nonsense |
probably null |
|
kilimanjaro
|
UTSW |
8 |
122,540,529 (GRCm39) |
nonsense |
probably null |
|
R0577:Klhdc4
|
UTSW |
8 |
122,548,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R0881:Klhdc4
|
UTSW |
8 |
122,526,226 (GRCm39) |
nonsense |
probably null |
|
R1710:Klhdc4
|
UTSW |
8 |
122,526,226 (GRCm39) |
nonsense |
probably null |
|
R2993:Klhdc4
|
UTSW |
8 |
122,533,320 (GRCm39) |
nonsense |
probably null |
|
R3028:Klhdc4
|
UTSW |
8 |
122,526,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R3109:Klhdc4
|
UTSW |
8 |
122,548,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R3711:Klhdc4
|
UTSW |
8 |
122,524,794 (GRCm39) |
missense |
probably benign |
|
R4132:Klhdc4
|
UTSW |
8 |
122,524,804 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4601:Klhdc4
|
UTSW |
8 |
122,526,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R4644:Klhdc4
|
UTSW |
8 |
122,548,739 (GRCm39) |
intron |
probably benign |
|
R4758:Klhdc4
|
UTSW |
8 |
122,524,783 (GRCm39) |
missense |
probably benign |
0.00 |
R4999:Klhdc4
|
UTSW |
8 |
122,523,342 (GRCm39) |
missense |
probably benign |
0.00 |
R5177:Klhdc4
|
UTSW |
8 |
122,540,529 (GRCm39) |
nonsense |
probably null |
|
R5364:Klhdc4
|
UTSW |
8 |
122,533,375 (GRCm39) |
intron |
probably benign |
|
R5475:Klhdc4
|
UTSW |
8 |
122,526,311 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5705:Klhdc4
|
UTSW |
8 |
122,531,732 (GRCm39) |
missense |
probably benign |
0.01 |
R6248:Klhdc4
|
UTSW |
8 |
122,540,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Klhdc4
|
UTSW |
8 |
122,531,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6626:Klhdc4
|
UTSW |
8 |
122,546,901 (GRCm39) |
missense |
probably benign |
0.43 |
R7274:Klhdc4
|
UTSW |
8 |
122,526,397 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7716:Klhdc4
|
UTSW |
8 |
122,556,159 (GRCm39) |
missense |
unknown |
|
R8430:Klhdc4
|
UTSW |
8 |
122,526,252 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8841:Klhdc4
|
UTSW |
8 |
122,523,380 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9089:Klhdc4
|
UTSW |
8 |
122,524,684 (GRCm39) |
missense |
probably benign |
0.06 |
R9443:Klhdc4
|
UTSW |
8 |
122,523,765 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9461:Klhdc4
|
UTSW |
8 |
122,526,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Klhdc4
|
UTSW |
8 |
122,527,917 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2014-01-21 |