Incidental Mutation 'R8430:Klhdc4'
ID |
653711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc4
|
Ensembl Gene |
ENSMUSG00000040263 |
Gene Name |
kelch domain containing 4 |
Synonyms |
G430025P05Rik |
MMRRC Submission |
067775-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R8430 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
122523052-122556308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122526252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 327
(S327P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045884]
[ENSMUST00000127664]
[ENSMUST00000174192]
[ENSMUST00000174665]
[ENSMUST00000174717]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045884
AA Change: S327P
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043439 Gene: ENSMUSG00000040263 AA Change: S327P
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 |
possibly damaging
Transcript: ENSMUST00000174192
AA Change: S270P
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134487 Gene: ENSMUSG00000040263 AA Change: S270P
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 |
possibly damaging
Transcript: ENSMUST00000174717
AA Change: S296P
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134361 Gene: ENSMUSG00000040263 AA Change: S296P
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
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 |
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 |
|
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'- ACAGAAGAGTACATGTGCCTTC -3'
(R):5'- AATTATGCTCCCGCCATGTG -3'
Sequencing Primer
(F):5'- AAGAGTACATGTGCCTTCAAAAG -3'
(R):5'- TGGTTCTCAGTGAGCCCC -3'
|
Posted On |
2020-10-20 |