Incidental Mutation 'R2993:Klhdc4'
| ID |
257970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc4
|
| Ensembl Gene |
ENSMUSG00000040263 |
| Gene Name |
kelch domain containing 4 |
| Synonyms |
G430025P05Rik |
| MMRRC Submission |
040528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2993 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to C
at 122533320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 118
(S118*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045884]
[ENSMUST00000127664]
[ENSMUST00000174192]
[ENSMUST00000174665]
[ENSMUST00000174717]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045884
AA Change: S175*
|
| SMART Domains |
Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: S175*
| 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 |
noncoding transcript
Transcript: ENSMUST00000173993
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174192
AA Change: S118*
|
| SMART Domains |
Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: S118*
| 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 |
unknown
Transcript: ENSMUST00000174665
AA Change: Q149E
|
| SMART Domains |
Protein: ENSMUSP00000134474
Gene: ENSMUSG00000040263
AA Change: Q149E
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,372,184 (GRCm39) |
W67R |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,134,384 (GRCm39) |
V1377A |
probably damaging |
Het |
| Adarb2 |
A |
C |
13: 8,763,752 (GRCm39) |
I550L |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,111,262 (GRCm39) |
|
probably null |
Het |
| Ago1 |
G |
T |
4: 126,333,839 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdc7 |
G |
A |
5: 107,121,764 (GRCm39) |
V226I |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,427,017 (GRCm39) |
V206I |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,995,944 (GRCm39) |
R120L |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,542,713 (GRCm39) |
L2486F |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,905 (GRCm39) |
I372T |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,095,915 (GRCm39) |
|
probably null |
Het |
| Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,818,484 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,488,476 (GRCm39) |
V314A |
probably damaging |
Het |
| Gpr15lg |
T |
A |
14: 36,829,402 (GRCm39) |
H27L |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,721,997 (GRCm39) |
F32L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,317,011 (GRCm39) |
I56T |
probably damaging |
Het |
| Katnbl1 |
G |
T |
2: 112,238,963 (GRCm39) |
|
probably null |
Het |
| Klrb1-ps1 |
A |
T |
6: 129,097,992 (GRCm39) |
K73N |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,446,250 (GRCm39) |
D98G |
probably damaging |
Het |
| Lrrfip1 |
C |
A |
1: 91,032,956 (GRCm39) |
D313E |
probably damaging |
Het |
| Misp3 |
A |
G |
8: 84,738,213 (GRCm39) |
L34P |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,280,715 (GRCm39) |
R85H |
probably damaging |
Het |
| Mrpl16 |
A |
G |
19: 11,751,895 (GRCm39) |
I218M |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,823 (GRCm39) |
V553D |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,909 (GRCm39) |
D90E |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,472 (GRCm39) |
S16R |
probably damaging |
Het |
| Vmn2r55 |
C |
T |
7: 12,418,882 (GRCm39) |
A13T |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,909 (GRCm39) |
V637A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCACGTGGCTGTTGGTCAC -3'
(R):5'- CTGGACCATCAGGCTGATTC -3'
Sequencing Primer
(F):5'- CACCTAGGGAGCGAGCAAC -3'
(R):5'- CTTCCAGAGGAACAGGGTTCAGTTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation