Incidental Mutation 'R1313:Clhc1'
| ID |
175062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clhc1
|
| Ensembl Gene |
ENSMUSG00000020461 |
| Gene Name |
clathrin heavy chain linker domain containing 1 |
| Synonyms |
1700034F02Rik |
| MMRRC Submission |
039379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29497950-29528360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29521678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 404
(I404V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020753]
[ENSMUST00000208530]
|
| AlphaFold |
Q5M6W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020753
AA Change: I415V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: I415V
| 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
AA Change: I404V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle1 |
A |
G |
8: 71,859,857 (GRCm39) |
E145G |
possibly damaging |
Het |
| Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
| Ddi1 |
T |
C |
9: 6,265,769 (GRCm39) |
E200G |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,810 (GRCm39) |
|
probably benign |
Het |
| Ercc6 |
C |
T |
14: 32,274,677 (GRCm39) |
|
probably benign |
Het |
| Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
| Lilrb4a |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
| Mocs1 |
A |
T |
17: 49,761,297 (GRCm39) |
T464S |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
| Psapl1 |
C |
A |
5: 36,362,610 (GRCm39) |
Q401K |
probably benign |
Het |
| Rps26-ps1 |
T |
A |
8: 108,166,089 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stat1 |
C |
T |
1: 52,195,165 (GRCm39) |
T720I |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,616,498 (GRCm39) |
|
probably benign |
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 |
|
R0553:Clhc1
|
UTSW |
11 |
29,511,366 (GRCm39) |
splice site |
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'- AGCGTTTGCCAACGTCTGTTCC -3'
(R):5'- TGCCAGCTTCGATGAGTGATGTTAG -3'
Sequencing Primer
(F):5'- TGCAGAATCTAGGCAGACTCTATG -3'
(R):5'- TTACTTACCAGTGTTAATGTCCTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation