Incidental Mutation 'R6050:Clhc1'
| ID |
483508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clhc1
|
| Ensembl Gene |
ENSMUSG00000020461 |
| Gene Name |
clathrin heavy chain linker domain containing 1 |
| Synonyms |
1700034F02Rik |
| MMRRC Submission |
044218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29497950-29528360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29511397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 280
(I280M)
|
| 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: I291M
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: I291M
| 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 |
possibly damaging
Transcript: ENSMUST00000208530
AA Change: I280M
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,202 (GRCm39) |
D1481G |
possibly damaging |
Het |
| Ak9 |
A |
G |
10: 41,265,108 (GRCm39) |
E955G |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,814 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Bbs2 |
T |
A |
8: 94,819,160 (GRCm39) |
N70Y |
probably damaging |
Het |
| BC048679 |
T |
C |
7: 81,145,339 (GRCm39) |
I70V |
possibly damaging |
Het |
| Catspere2 |
G |
A |
1: 177,931,490 (GRCm39) |
A470T |
unknown |
Het |
| Ccdc141 |
G |
T |
2: 76,842,075 (GRCm39) |
A1452E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,812 (GRCm39) |
D1883G |
probably benign |
Het |
| Cmtr1 |
G |
T |
17: 29,901,108 (GRCm39) |
K678N |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,793,530 (GRCm39) |
D329G |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Fcf1 |
G |
A |
12: 85,029,017 (GRCm39) |
C154Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,433 (GRCm39) |
N1358S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,445,229 (GRCm39) |
I608M |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,526,158 (GRCm39) |
D210N |
possibly damaging |
Het |
| Ift140 |
C |
T |
17: 25,309,979 (GRCm39) |
R1129C |
probably damaging |
Het |
| Lias |
A |
G |
5: 65,551,315 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,620 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,263 (GRCm39) |
Y411C |
probably damaging |
Het |
| Mrps21 |
C |
T |
3: 95,770,200 (GRCm39) |
R43H |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,240,054 (GRCm39) |
Q172* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,362,501 (GRCm39) |
T1375A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,753,919 (GRCm39) |
S652A |
possibly damaging |
Het |
| Ovol3 |
T |
A |
7: 29,933,819 (GRCm39) |
Y101F |
probably benign |
Het |
| Pcbp4 |
T |
C |
9: 106,339,422 (GRCm39) |
V45A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,458 (GRCm39) |
E709G |
probably damaging |
Het |
| Prcc |
G |
A |
3: 87,777,191 (GRCm39) |
T261I |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,260,403 (GRCm39) |
V165A |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,376,896 (GRCm39) |
P133S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,218,383 (GRCm39) |
T251M |
unknown |
Het |
| Sec14l2 |
T |
C |
11: 4,061,477 (GRCm39) |
D67G |
probably benign |
Het |
| Smtnl1 |
A |
G |
2: 84,641,797 (GRCm39) |
I441T |
probably damaging |
Het |
| Tbce |
C |
T |
13: 14,173,019 (GRCm39) |
V471I |
possibly damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,703 (GRCm39) |
R495C |
probably damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,944 (GRCm39) |
K105R |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,010,744 (GRCm39) |
N229I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,521 (GRCm39) |
F5028L |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,691 (GRCm39) |
S673P |
probably damaging |
Het |
| Zfp780b |
A |
T |
7: 27,663,727 (GRCm39) |
I276N |
probably 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 |
|
R0553:Clhc1
|
UTSW |
11 |
29,511,366 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- TCATTCTTGAGACTGAGGCCAC -3'
(R):5'- TGACCCTCACAGAATAAAGAAAGTG -3'
Sequencing Primer
(F):5'- CCACGGAGGGGAAGTGACTC -3'
(R):5'- CAAGGCCATCCTATATTTGGTAGTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation