Incidental Mutation 'R3109:Klhdc4'
ID |
263706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc4
|
Ensembl Gene |
ENSMUSG00000040263 |
Gene Name |
kelch domain containing 4 |
Synonyms |
G430025P05Rik |
MMRRC Submission |
040583-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3109 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 122548073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 72
(H72Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045884]
[ENSMUST00000127664]
[ENSMUST00000174192]
[ENSMUST00000174255]
[ENSMUST00000174665]
[ENSMUST00000174717]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045884
AA Change: H72Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043439 Gene: ENSMUSG00000040263 AA Change: H72Q
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: ENSMUST00000172470
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174192
|
SMART Domains |
Protein: ENSMUSP00000134487 Gene: ENSMUSG00000040263
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 |
probably benign
Transcript: ENSMUST00000174255
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174709
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174717
AA Change: H72Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134361 Gene: ENSMUSG00000040263 AA Change: H72Q
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 |
|
Meta Mutation Damage Score |
0.4588 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,243,785 (GRCm39) |
|
probably benign |
Het |
Alkbh3 |
T |
C |
2: 93,835,108 (GRCm39) |
E80G |
probably damaging |
Het |
Amfr |
T |
C |
8: 94,726,934 (GRCm39) |
Y93C |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,254,627 (GRCm39) |
Y158H |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,037,301 (GRCm39) |
Y133C |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,969,654 (GRCm39) |
|
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,925,586 (GRCm39) |
D56G |
probably benign |
Het |
Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,480,733 (GRCm39) |
Y1459H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,373,297 (GRCm39) |
C164S |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,828,863 (GRCm39) |
I588N |
probably benign |
Het |
Rslcan18 |
C |
T |
13: 67,246,671 (GRCm39) |
E314K |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,819,184 (GRCm39) |
T1325S |
probably damaging |
Het |
Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
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 |
|
R3028:Klhdc4
|
UTSW |
8 |
122,526,288 (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'- TGACACTTAGCATGTGGGAG -3'
(R):5'- AGAGCTTGCATGTCGTCCTG -3'
Sequencing Primer
(F):5'- CTTAGCATGTGGGAGCGCAAG -3'
(R):5'- AGCGTGCCTAGTTGCAG -3'
|
Posted On |
2015-02-05 |