Incidental Mutation 'IGL01614:Clptm1'
| ID |
92318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clptm1
|
| Ensembl Gene |
ENSMUSG00000002981 |
| Gene Name |
cleft lip and palate associated transmembrane protein 1 |
| Synonyms |
N14, HS9 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
IGL01614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19365505-19398955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19371625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 269
(D269E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055242]
|
| AlphaFold |
Q8VBZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055242
AA Change: D269E
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: D269E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
52 |
N/A |
INTRINSIC |
|
Pfam:CLPTM1
|
56 |
497 |
5.8e-148 |
PFAM |
|
transmembrane domain
|
507 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208868
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
A |
17: 43,735,362 (GRCm39) |
S143T |
possibly damaging |
Het |
| Arhgap32 |
G |
T |
9: 32,171,801 (GRCm39) |
S1527I |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,282,437 (GRCm39) |
V128A |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,113,866 (GRCm39) |
F255L |
probably damaging |
Het |
| Cyria |
T |
C |
12: 12,411,574 (GRCm39) |
|
probably null |
Het |
| E2f7 |
T |
C |
10: 110,595,839 (GRCm39) |
V63A |
probably damaging |
Het |
| Eif4e1b |
T |
A |
13: 54,934,729 (GRCm39) |
I184N |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,996 (GRCm39) |
L401Q |
probably damaging |
Het |
| Gm7808 |
G |
A |
9: 19,839,442 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
G |
A |
11: 102,090,854 (GRCm39) |
T741I |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,172,507 (GRCm39) |
T522A |
probably benign |
Het |
| Lama5 |
A |
C |
2: 179,822,657 (GRCm39) |
F2832V |
probably damaging |
Het |
| Ltk |
A |
C |
2: 119,583,968 (GRCm39) |
L230R |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,167,609 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,433,173 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,156,095 (GRCm39) |
I554K |
possibly damaging |
Het |
| Or1j12 |
T |
G |
2: 36,342,636 (GRCm39) |
I13S |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,529 (GRCm39) |
C30Y |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,576 (GRCm39) |
V221I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,741 (GRCm39) |
I140N |
possibly damaging |
Het |
| Prr14 |
T |
A |
7: 127,074,305 (GRCm39) |
L279H |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,706,341 (GRCm39) |
D229Y |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,684 (GRCm39) |
K1926E |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,352,579 (GRCm39) |
R435Q |
probably null |
Het |
| Srebf2 |
A |
G |
15: 82,063,054 (GRCm39) |
N457S |
probably benign |
Het |
| Stac2 |
T |
C |
11: 97,943,774 (GRCm39) |
D12G |
probably benign |
Het |
| Tal1 |
A |
C |
4: 114,920,325 (GRCm39) |
|
probably null |
Het |
| Usp25 |
G |
A |
16: 76,874,005 (GRCm39) |
R527Q |
probably damaging |
Het |
|
| Other mutations in Clptm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01909:Clptm1
|
APN |
7 |
19,389,701 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03089:Clptm1
|
APN |
7 |
19,371,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Clptm1
|
UTSW |
7 |
19,369,629 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0128:Clptm1
|
UTSW |
7 |
19,368,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Clptm1
|
UTSW |
7 |
19,369,599 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1167:Clptm1
|
UTSW |
7 |
19,368,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Clptm1
|
UTSW |
7 |
19,367,797 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1655:Clptm1
|
UTSW |
7 |
19,379,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1855:Clptm1
|
UTSW |
7 |
19,372,134 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2004:Clptm1
|
UTSW |
7 |
19,380,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2189:Clptm1
|
UTSW |
7 |
19,371,070 (GRCm39) |
nonsense |
probably null |
|
|
R2203:Clptm1
|
UTSW |
7 |
19,367,817 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3237:Clptm1
|
UTSW |
7 |
19,369,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3963:Clptm1
|
UTSW |
7 |
19,372,121 (GRCm39) |
nonsense |
probably null |
|
|
R5416:Clptm1
|
UTSW |
7 |
19,367,741 (GRCm39) |
unclassified |
probably benign |
|
|
R6110:Clptm1
|
UTSW |
7 |
19,367,731 (GRCm39) |
unclassified |
probably benign |
|
|
R6474:Clptm1
|
UTSW |
7 |
19,369,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6737:Clptm1
|
UTSW |
7 |
19,371,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6897:Clptm1
|
UTSW |
7 |
19,369,751 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8144:Clptm1
|
UTSW |
7 |
19,367,827 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8244:Clptm1
|
UTSW |
7 |
19,372,916 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8374:Clptm1
|
UTSW |
7 |
19,372,081 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8438:Clptm1
|
UTSW |
7 |
19,379,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8885:Clptm1
|
UTSW |
7 |
19,372,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Clptm1
|
UTSW |
7 |
19,367,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Clptm1
|
UTSW |
7 |
19,371,449 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9529:Clptm1
|
UTSW |
7 |
19,371,600 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9601:Clptm1
|
UTSW |
7 |
19,369,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clptm1
|
UTSW |
7 |
19,371,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation