Incidental Mutation 'R3028:Klhdc4'
ID |
265885 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc4
|
Ensembl Gene |
ENSMUSG00000040263 |
Gene Name |
kelch domain containing 4 |
Synonyms |
G430025P05Rik |
MMRRC Submission |
040544-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3028 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122526288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 284
(V284M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045884]
[ENSMUST00000127664]
[ENSMUST00000174192]
[ENSMUST00000174717]
[ENSMUST00000174665]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045884
AA Change: V315M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043439 Gene: ENSMUSG00000040263 AA Change: V315M
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 |
noncoding transcript
Transcript: ENSMUST00000172507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172954
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174192
AA Change: V258M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134487 Gene: ENSMUSG00000040263 AA Change: V258M
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 |
noncoding transcript
Transcript: ENSMUST00000174709
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174717
AA Change: V284M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134361 Gene: ENSMUSG00000040263 AA Change: V284M
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 |
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
T |
G |
8: 18,753,560 (GRCm39) |
K289Q |
probably benign |
Het |
Avl9 |
T |
A |
6: 56,707,672 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,801,095 (GRCm39) |
K752E |
probably benign |
Het |
Cyp4a10 |
T |
C |
4: 115,375,628 (GRCm39) |
F37S |
possibly damaging |
Het |
Gtpbp1 |
C |
T |
15: 79,600,080 (GRCm39) |
T369I |
possibly damaging |
Het |
Hcrtr1 |
C |
A |
4: 130,029,604 (GRCm39) |
R159L |
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,264,135 (GRCm39) |
I809V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
N6amt1 |
C |
G |
16: 87,159,536 (GRCm39) |
H147Q |
probably benign |
Het |
Pdgfra |
A |
T |
5: 75,335,642 (GRCm39) |
H425L |
probably damaging |
Het |
Phlpp2 |
C |
T |
8: 110,634,245 (GRCm39) |
A240V |
probably damaging |
Het |
Ppib |
A |
T |
9: 65,973,589 (GRCm39) |
K181* |
probably null |
Het |
Rab11fip3 |
A |
G |
17: 26,234,916 (GRCm39) |
|
probably null |
Het |
Sftpc |
A |
T |
14: 70,758,865 (GRCm39) |
H161Q |
probably benign |
Het |
Sigirr |
A |
G |
7: 140,672,192 (GRCm39) |
L251P |
probably damaging |
Het |
Skint6 |
A |
T |
4: 113,093,690 (GRCm39) |
M151K |
possibly damaging |
Het |
Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
Speer3 |
T |
A |
5: 13,845,445 (GRCm39) |
N159K |
probably damaging |
Het |
Spire1 |
A |
C |
18: 67,624,417 (GRCm39) |
S581A |
probably damaging |
Het |
Susd6 |
C |
T |
12: 80,921,234 (GRCm39) |
T277I |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
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 |
|
IGL01678:Klhdc4
|
APN |
8 |
122,523,677 (GRCm39) |
missense |
possibly damaging |
0.73 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGAAGAGTACATGTGCCTTC -3'
(R):5'- ATTATGCTCCCGCCATGTGC -3'
Sequencing Primer
(F):5'- AAGAGTACATGTGCCTTCAAAAG -3'
(R):5'- GCCATGTGCCTGGGTTCTC -3'
|
Posted On |
2015-02-05 |