Incidental Mutation 'IGL01909:Clptm1'
| ID |
179747 |
| 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: 0.936)
|
| Stock # |
IGL01909
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19365505-19398955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19389701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 43
(N43D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055242]
|
| AlphaFold |
Q8VBZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055242
AA Change: N43D
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: N43D
| 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: ENSMUST00000208174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208846
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700111E14Rik |
A |
T |
6: 36,914,152 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
T |
13: 12,324,479 (GRCm39) |
|
probably null |
Het |
| Apom |
C |
T |
17: 35,350,208 (GRCm39) |
A78T |
probably benign |
Het |
| Bambi |
A |
G |
18: 3,508,229 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,576 (GRCm39) |
M418V |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,136,886 (GRCm39) |
V241A |
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 63,339,910 (GRCm39) |
I32N |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,752,576 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,844 (GRCm39) |
D893G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| H2-M10.1 |
C |
A |
17: 36,635,971 (GRCm39) |
G154* |
probably null |
Het |
| Igdcc3 |
C |
T |
9: 65,051,819 (GRCm39) |
R141W |
probably damaging |
Het |
| Igkv14-130 |
A |
G |
6: 67,768,323 (GRCm39) |
K60E |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,512 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,324,529 (GRCm39) |
L1288P |
possibly damaging |
Het |
| Mavs |
T |
A |
2: 131,087,441 (GRCm39) |
M313K |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,731 (GRCm39) |
E148G |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,950 (GRCm39) |
T188S |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,159 (GRCm39) |
I68K |
possibly damaging |
Het |
| Or8d1 |
T |
A |
9: 38,767,013 (GRCm39) |
Y218* |
probably null |
Het |
| Plekha3 |
C |
T |
2: 76,517,047 (GRCm39) |
T133M |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,309,066 (GRCm39) |
|
probably null |
Het |
| Septin2 |
A |
G |
1: 93,426,823 (GRCm39) |
N144S |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,451 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,594,312 (GRCm39) |
I59K |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,184 (GRCm39) |
S1243G |
possibly damaging |
Het |
| Unc13a |
T |
A |
8: 72,091,854 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,444,918 (GRCm39) |
R525G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r37 |
T |
A |
7: 9,219,032 (GRCm39) |
K451* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,270,001 (GRCm39) |
T504I |
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,465,994 (GRCm39) |
C397S |
probably damaging |
Het |
|
| Other mutations in Clptm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Clptm1
|
APN |
7 |
19,371,625 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
2014-05-07 |
Incidental Mutation