Incidental Mutation 'R2189:Clptm1'
| ID |
237966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clptm1
|
| Ensembl Gene |
ENSMUSG00000002981 |
| Gene Name |
cleft lip and palate associated transmembrane protein 1 |
| Synonyms |
N14, HS9 |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19365505-19398955 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 19371070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 355
(Y355*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055242]
|
| AlphaFold |
Q8VBZ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055242
AA Change: Y355*
|
| SMART Domains |
Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: Y355*
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCCCTCTAGAGTACAG -3'
(R):5'- CTGTTTCACGACTGCCTAGC -3'
Sequencing Primer
(F):5'- TCTAGAGTACAGAGACCCCAGG -3'
(R):5'- AACCCTAGCTCACCCTGGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation