Incidental Mutation 'R5705:Klhdc4'
| ID |
451927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc4
|
| Ensembl Gene |
ENSMUSG00000040263 |
| Gene Name |
kelch domain containing 4 |
| Synonyms |
G430025P05Rik |
| MMRRC Submission |
043330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5705 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122531732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 181
(V181A)
|
| 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 benign
Transcript: ENSMUST00000045884
AA Change: V238A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: V238A
| 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 benign
Transcript: ENSMUST00000174192
AA Change: V181A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: V181A
| 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: 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 |
probably benign
Transcript: ENSMUST00000174717
AA Change: V207A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: V207A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
| Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
| Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
| Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
| Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
| Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
| Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
| Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
| Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
| Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
| Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
| Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
| Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
| Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
| Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
| Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
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 |
|
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'- TGTTTTAAAGAGGAGCAGAGCC -3'
(R):5'- GGATTTACAAGCCCTTGAATGG -3'
Sequencing Primer
(F):5'- GCAGAGCCATGTCAGCAAACTG -3'
(R):5'- TGGGGATTCTTGAAGCACATAACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation