Incidental Mutation 'R3711:Klhdc4'
ID |
259609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc4
|
Ensembl Gene |
ENSMUSG00000040263 |
Gene Name |
kelch domain containing 4 |
Synonyms |
G430025P05Rik |
MMRRC Submission |
040704-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3711 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122524794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045884]
[ENSMUST00000127664]
[ENSMUST00000167439]
[ENSMUST00000174192]
[ENSMUST00000174717]
[ENSMUST00000174665]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045884
AA Change: V409A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043439 Gene: ENSMUSG00000040263 AA Change: V409A
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 |
probably benign
Transcript: ENSMUST00000167439
|
SMART Domains |
Protein: ENSMUSP00000126190 Gene: ENSMUSG00000025318
Domain | Start | End | E-Value | Type |
MORN
|
13 |
34 |
8.01e-1 |
SMART |
MORN
|
37 |
57 |
6.13e1 |
SMART |
MORN
|
59 |
80 |
2.99e-1 |
SMART |
Pfam:MORN
|
83 |
104 |
5.8e-2 |
PFAM |
MORN
|
105 |
126 |
8.1e-5 |
SMART |
MORN
|
128 |
149 |
2.74e-2 |
SMART |
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
low complexity region
|
212 |
244 |
N/A |
INTRINSIC |
MORN
|
286 |
307 |
2.78e-3 |
SMART |
MORN
|
309 |
330 |
1.03e-6 |
SMART |
low complexity region
|
360 |
381 |
N/A |
INTRINSIC |
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174192
AA Change: V352A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134487 Gene: ENSMUSG00000040263 AA Change: V352A
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 |
noncoding transcript
Transcript: ENSMUST00000174206
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174717
AA Change: V378A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134361 Gene: ENSMUSG00000040263 AA Change: V378A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174709
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,837,081 (GRCm39) |
V1138A |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,567,594 (GRCm39) |
I5193K |
probably benign |
Het |
Adnp |
A |
T |
2: 168,026,743 (GRCm39) |
I184N |
probably damaging |
Het |
Ahnak |
T |
G |
19: 8,985,262 (GRCm39) |
V2182G |
probably benign |
Het |
Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,385,838 (GRCm39) |
G494D |
probably benign |
Het |
Atic |
T |
A |
1: 71,617,738 (GRCm39) |
S563T |
probably benign |
Het |
Bahcc1 |
A |
T |
11: 120,165,923 (GRCm39) |
I1060F |
probably benign |
Het |
Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
Dnm2 |
C |
A |
9: 21,417,669 (GRCm39) |
|
probably benign |
Het |
Exo1 |
A |
G |
1: 175,721,395 (GRCm39) |
T345A |
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,052,299 (GRCm39) |
H53R |
possibly damaging |
Het |
Fbf1 |
A |
G |
11: 116,054,179 (GRCm39) |
I29T |
probably damaging |
Het |
Gm14399 |
G |
A |
2: 174,973,303 (GRCm39) |
R151* |
probably null |
Het |
Gsdma |
T |
A |
11: 98,557,045 (GRCm39) |
Y53* |
probably null |
Het |
Hid1 |
A |
T |
11: 115,249,601 (GRCm39) |
L208Q |
probably damaging |
Het |
Kif4-ps |
A |
G |
12: 101,112,312 (GRCm39) |
E147G |
probably damaging |
Het |
Kif7 |
A |
T |
7: 79,360,640 (GRCm39) |
V245D |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
Mast3 |
C |
A |
8: 71,232,251 (GRCm39) |
R1242L |
probably benign |
Het |
Mon1b |
T |
C |
8: 114,365,779 (GRCm39) |
M369T |
possibly damaging |
Het |
Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
Narf |
G |
T |
11: 121,137,764 (GRCm39) |
E224* |
probably null |
Het |
Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
Nmnat3 |
T |
A |
9: 98,292,276 (GRCm39) |
Y108N |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,643,378 (GRCm39) |
Y534F |
probably benign |
Het |
Obox5 |
A |
T |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
Optc |
A |
T |
1: 133,832,819 (GRCm39) |
S94T |
probably benign |
Het |
Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
Or1l4 |
A |
G |
2: 37,091,285 (GRCm39) |
T11A |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
Or8w1 |
T |
C |
2: 87,466,025 (GRCm39) |
D22G |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,702,572 (GRCm39) |
L423P |
probably damaging |
Het |
Sun5 |
A |
G |
2: 153,709,468 (GRCm39) |
V74A |
probably benign |
Het |
Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
Tlr6 |
T |
C |
5: 65,111,152 (GRCm39) |
D585G |
possibly damaging |
Het |
Tmt1a3 |
A |
T |
15: 100,232,961 (GRCm39) |
M51L |
probably benign |
Het |
Tnrc6c |
A |
G |
11: 117,613,950 (GRCm39) |
T863A |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,966,240 (GRCm39) |
L159F |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,859,251 (GRCm39) |
N1094S |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,347,830 (GRCm39) |
S2070P |
possibly damaging |
Het |
Zfp648 |
T |
A |
1: 154,080,304 (GRCm39) |
S154R |
probably benign |
Het |
Zfp748 |
A |
G |
13: 67,688,915 (GRCm39) |
C782R |
probably damaging |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
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'- TCGGATCCATCTCCACCAAG -3'
(R):5'- GCCCCAAGTCTGAGAAGAAG -3'
Sequencing Primer
(F):5'- CCATCTTGTGAAGGTCAAGGC -3'
(R):5'- CCCCAAGTCTGAGAAGAAGAAACG -3'
|
Posted On |
2015-01-23 |