Incidental Mutation 'IGL01100:Klhdc4'
| ID |
51762 |
| 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 # |
IGL01100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 122548582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 44
(Q44*)
|
| 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 null
Transcript: ENSMUST00000045884
AA Change: Q44*
|
| SMART Domains |
Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: Q44*
| 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 null
Transcript: ENSMUST00000174665
AA Change: Q44*
|
| SMART Domains |
Protein: ENSMUSP00000134474
Gene: ENSMUSG00000040263
AA Change: Q44*
| 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 null
Transcript: ENSMUST00000174717
AA Change: Q44*
|
| SMART Domains |
Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: Q44*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
| Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,679,833 (GRCm39) |
N122K |
probably benign |
Het |
| Arrb1 |
A |
T |
7: 99,236,420 (GRCm39) |
|
probably null |
Het |
| Csde1 |
C |
A |
3: 102,947,841 (GRCm39) |
R132S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
| Ip6k2 |
G |
T |
9: 108,682,943 (GRCm39) |
S305I |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
| Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
| Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
| Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
| Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
| Smg9 |
G |
A |
7: 24,116,376 (GRCm39) |
V314M |
probably damaging |
Het |
| Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
| Other mutations in Klhdc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation