Incidental Mutation 'R4644:Klhdc4'
| ID |
351778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc4
|
| Ensembl Gene |
ENSMUSG00000040263 |
| Gene Name |
kelch domain containing 4 |
| Synonyms |
G430025P05Rik |
| MMRRC Submission |
041905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4644 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to C
at 122548739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000045884
|
| SMART Domains |
Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
| 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 benign
Transcript: ENSMUST00000174717
|
| SMART Domains |
Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
| Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,770,426 (GRCm39) |
I173N |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
| Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
| Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,419,940 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,823,015 (GRCm39) |
K17R |
probably benign |
Het |
| Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
| Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
| Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
| Semp2l2b |
A |
G |
10: 21,942,660 (GRCm39) |
V440A |
probably benign |
Het |
| Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
| Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,788 (GRCm39) |
Y72H |
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 |
|
|
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 |
|
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 |
|
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'- TTTTGGCATCCAAGGTCTGG -3'
(R):5'- GCATGCGTCTACACCTACAG -3'
Sequencing Primer
(F):5'- CAAGGTCTGGAAATGGGCTATG -3'
(R):5'- GTCTACACCTACAGAAAGCTGCTTTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation