Incidental Mutation 'R6626:Klhdc4'
| ID |
524809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc4
|
| Ensembl Gene |
ENSMUSG00000040263 |
| Gene Name |
kelch domain containing 4 |
| Synonyms |
G430025P05Rik |
| MMRRC Submission |
044748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6626 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122546901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043439
(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
AA Change: V110A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: V110A
| 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
AA Change: V53A
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: V53A
| 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 |
silent
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
AA Change: V110A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: V110A
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
C |
11: 3,888,056 (GRCm39) |
H110R |
unknown |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,465,207 (GRCm39) |
L19H |
probably damaging |
Het |
| Bcl9 |
C |
T |
3: 97,122,712 (GRCm39) |
R29H |
probably benign |
Het |
| Boc |
A |
T |
16: 44,340,803 (GRCm39) |
I49N |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,703,164 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,022,703 (GRCm39) |
S879P |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,786,143 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,230,892 (GRCm39) |
I63T |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,929,012 (GRCm38) |
R1914C |
probably damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,209 (GRCm39) |
K35M |
possibly damaging |
Het |
| Gpld1 |
T |
C |
13: 25,163,953 (GRCm39) |
S552P |
probably damaging |
Het |
| Hacd1 |
T |
A |
2: 14,031,755 (GRCm39) |
I243F |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,220,528 (GRCm39) |
V441M |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,244,100 (GRCm39) |
Y2109C |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,964,210 (GRCm39) |
S387T |
possibly damaging |
Het |
| Notch2 |
T |
G |
3: 98,008,921 (GRCm39) |
V513G |
probably damaging |
Het |
| Nt5c1b |
A |
T |
12: 10,424,837 (GRCm39) |
R128* |
probably null |
Het |
| Olig2 |
T |
C |
16: 91,024,044 (GRCm39) |
S253P |
unknown |
Het |
| Or6b1 |
A |
G |
6: 42,815,582 (GRCm39) |
M256V |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,402 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or8k53 |
C |
T |
2: 86,177,364 (GRCm39) |
V249I |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,648,780 (GRCm39) |
F199I |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,665,381 (GRCm39) |
T178A |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,208,512 (GRCm39) |
A341T |
possibly damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,128,667 (GRCm39) |
F1448L |
probably benign |
Het |
| Tank |
T |
A |
2: 61,480,640 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,677,822 (GRCm39) |
Y69F |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,038,284 (GRCm39) |
D1518G |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,398,792 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,281,028 (GRCm39) |
Y227H |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,551,101 (GRCm39) |
W388* |
probably null |
Het |
| Zfp516 |
T |
A |
18: 83,006,232 (GRCm39) |
D1045E |
probably damaging |
Het |
| Zscan10 |
C |
T |
17: 23,824,831 (GRCm39) |
P96S |
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 |
|
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 |
|
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'- CTAGCTCTCAAGAGACTGGAGG -3'
(R):5'- ATGGCCTTTCTGCACTGGTATG -3'
Sequencing Primer
(F):5'- TGGGGATATCCTCCTGGAGACAG -3'
(R):5'- ATGGGTCAGTTCACAAGCTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation