Incidental Mutation 'R0553:Clhc1'
ID |
45293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clhc1
|
Ensembl Gene |
ENSMUSG00000020461 |
Gene Name |
clathrin heavy chain linker domain containing 1 |
Synonyms |
1700034F02Rik |
MMRRC Submission |
038745-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R0553 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29497950-29528360 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 29511366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020753]
[ENSMUST00000208530]
|
AlphaFold |
Q5M6W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020753
|
SMART Domains |
Protein: ENSMUSP00000020753 Gene: ENSMUSG00000020461
Domain | Start | End | E-Value | Type |
Pfam:TSNAXIP1_N
|
28 |
152 |
2.6e-26 |
PFAM |
Pfam:Clathrin_H_link
|
302 |
365 |
3.7e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131366
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208530
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly damaging |
Het |
|
Other mutations in Clhc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Clhc1
|
APN |
11 |
29,521,745 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00976:Clhc1
|
APN |
11 |
29,511,389 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01826:Clhc1
|
APN |
11 |
29,503,765 (GRCm39) |
splice site |
probably null |
|
IGL02029:Clhc1
|
APN |
11 |
29,510,798 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02479:Clhc1
|
APN |
11 |
29,528,107 (GRCm39) |
missense |
probably damaging |
0.98 |
R1313:Clhc1
|
UTSW |
11 |
29,521,678 (GRCm39) |
missense |
probably benign |
|
R1313:Clhc1
|
UTSW |
11 |
29,521,678 (GRCm39) |
missense |
probably benign |
|
R1482:Clhc1
|
UTSW |
11 |
29,503,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Clhc1
|
UTSW |
11 |
29,519,287 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1742:Clhc1
|
UTSW |
11 |
29,507,647 (GRCm39) |
splice site |
probably null |
|
R2094:Clhc1
|
UTSW |
11 |
29,507,771 (GRCm39) |
missense |
probably benign |
0.13 |
R2130:Clhc1
|
UTSW |
11 |
29,507,663 (GRCm39) |
missense |
probably benign |
0.33 |
R2237:Clhc1
|
UTSW |
11 |
29,519,329 (GRCm39) |
missense |
probably benign |
0.30 |
R3814:Clhc1
|
UTSW |
11 |
29,521,826 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3854:Clhc1
|
UTSW |
11 |
29,521,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4417:Clhc1
|
UTSW |
11 |
29,521,826 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4659:Clhc1
|
UTSW |
11 |
29,528,229 (GRCm39) |
makesense |
probably null |
|
R5021:Clhc1
|
UTSW |
11 |
29,510,627 (GRCm39) |
missense |
probably benign |
0.01 |
R5246:Clhc1
|
UTSW |
11 |
29,525,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Clhc1
|
UTSW |
11 |
29,528,244 (GRCm39) |
utr 3 prime |
probably benign |
|
R5657:Clhc1
|
UTSW |
11 |
29,511,431 (GRCm39) |
missense |
probably benign |
0.03 |
R5771:Clhc1
|
UTSW |
11 |
29,513,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6050:Clhc1
|
UTSW |
11 |
29,511,397 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6211:Clhc1
|
UTSW |
11 |
29,528,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6500:Clhc1
|
UTSW |
11 |
29,510,542 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6615:Clhc1
|
UTSW |
11 |
29,528,149 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6944:Clhc1
|
UTSW |
11 |
29,519,346 (GRCm39) |
missense |
probably damaging |
0.97 |
R7252:Clhc1
|
UTSW |
11 |
29,513,937 (GRCm39) |
missense |
probably benign |
0.01 |
R7860:Clhc1
|
UTSW |
11 |
29,507,651 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8221:Clhc1
|
UTSW |
11 |
29,503,751 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8259:Clhc1
|
UTSW |
11 |
29,503,746 (GRCm39) |
missense |
probably benign |
0.37 |
R8769:Clhc1
|
UTSW |
11 |
29,511,401 (GRCm39) |
missense |
probably damaging |
0.99 |
R8931:Clhc1
|
UTSW |
11 |
29,510,533 (GRCm39) |
nonsense |
probably null |
|
R9752:Clhc1
|
UTSW |
11 |
29,507,778 (GRCm39) |
missense |
probably benign |
0.13 |
X0023:Clhc1
|
UTSW |
11 |
29,519,305 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTGAGACTGAGGCCACGGAGG -3'
(R):5'- GTACTTGAACTGCTATCCCAATGACCC -3'
Sequencing Primer
(F):5'- CACGGAGGGGAAGTGACTC -3'
(R):5'- tcaggagggaggcagtag -3'
|
Posted On |
2013-06-11 |