Incidental Mutation 'R5246:Clhc1'
| ID |
401158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clhc1
|
| Ensembl Gene |
ENSMUSG00000020461 |
| Gene Name |
clathrin heavy chain linker domain containing 1 |
| Synonyms |
1700034F02Rik |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29497950-29528360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29525434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 503
(S503T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020753]
[ENSMUST00000208530]
|
| AlphaFold |
Q5M6W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020753
AA Change: S503T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: S503T
| 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 damaging
Transcript: ENSMUST00000208530
AA Change: S492T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
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 |
|
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 |
|
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'- AAGTTCCTGACTGCCAACCC -3'
(R):5'- CTCCTGACTGTAGTCTGAGTGC -3'
Sequencing Primer
(F):5'- CAACACATCTCTGTTCCTGAATAG -3'
(R):5'- GGGTCAGTAGCATAACTTATTCCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation