Incidental Mutation 'R4132:Cmtm1'
| ID |
314704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmtm1
|
| Ensembl Gene |
ENSMUSG00000110430 |
| Gene Name |
CKLF-like MARVEL transmembrane domain containing 1 |
| Synonyms |
CKLFH1, CHLFH1a, Cklfsf1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R4132 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105020174-105036777 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (11 aa in frame mutation) |
| DNA Base Change (assembly) |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT to CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT
at 105036102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159039]
[ENSMUST00000160596]
[ENSMUST00000162616]
[ENSMUST00000164175]
|
| AlphaFold |
B7ZP21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159039
|
| SMART Domains |
Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
33 |
70 |
7.45e-12 |
PROSPERO |
|
internal_repeat_2
|
34 |
74 |
9.92e-7 |
PROSPERO |
|
internal_repeat_1
|
66 |
103 |
7.45e-12 |
PROSPERO |
|
internal_repeat_2
|
122 |
162 |
9.92e-7 |
PROSPERO |
|
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
|
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160596
|
| SMART Domains |
Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
33 |
70 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
34 |
74 |
1.79e-6 |
PROSPERO |
|
internal_repeat_1
|
66 |
103 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
122 |
162 |
1.79e-6 |
PROSPERO |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162616
|
| SMART Domains |
Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
33 |
70 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
34 |
74 |
1.79e-6 |
PROSPERO |
|
internal_repeat_1
|
66 |
103 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
122 |
162 |
1.79e-6 |
PROSPERO |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164175
|
| SMART Domains |
Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
34 |
71 |
1.23e-5 |
PROSPERO |
|
internal_repeat_1
|
100 |
137 |
1.23e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212847
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
T |
C |
1: 92,812,822 (GRCm39) |
M496V |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Gm1527 |
A |
T |
3: 28,974,779 (GRCm39) |
I531L |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,947,953 (GRCm39) |
I617T |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhdc4 |
C |
T |
8: 122,524,804 (GRCm39) |
G375R |
possibly damaging |
Het |
| Myo5c |
G |
A |
9: 75,159,850 (GRCm39) |
V293I |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,169,241 (GRCm39) |
R672* |
probably null |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,107 (GRCm39) |
I317T |
possibly damaging |
Het |
| Safb |
C |
A |
17: 56,907,848 (GRCm39) |
|
probably benign |
Het |
| Tspan5 |
C |
T |
3: 138,602,628 (GRCm39) |
R106* |
probably null |
Het |
| Ubap2l |
A |
G |
3: 89,916,491 (GRCm39) |
Y908H |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,141,159 (GRCm39) |
N372S |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,819 (GRCm39) |
I156V |
probably benign |
Het |
| Zbtb8os |
A |
G |
4: 129,229,906 (GRCm39) |
Y24C |
probably damaging |
Het |
|
| Other mutations in Cmtm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Senilicus
|
UTSW |
8 |
105,035,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
G1citation:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R2900:Cmtm1
|
UTSW |
8 |
105,036,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4615:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R4723:Cmtm1
|
UTSW |
8 |
105,020,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5277:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5347:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5364:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5394:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5403:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5611:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5715:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5731:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5773:Cmtm1
|
UTSW |
8 |
105,031,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Cmtm1
|
UTSW |
8 |
105,037,583 (GRCm39) |
unclassified |
probably benign |
|
|
R6207:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R6313:Cmtm1
|
UTSW |
8 |
105,031,795 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6528:Cmtm1
|
UTSW |
8 |
105,035,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6817:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R6821:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R6822:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R7028:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7128:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7132:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7816:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7819:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R7841:Cmtm1
|
UTSW |
8 |
105,036,108 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7963:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7988:Cmtm1
|
UTSW |
8 |
105,036,774 (GRCm39) |
unclassified |
probably benign |
|
|
R8130:Cmtm1
|
UTSW |
8 |
105,036,088 (GRCm39) |
missense |
unknown |
|
|
R8152:Cmtm1
|
UTSW |
8 |
105,036,573 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8439:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R8459:Cmtm1
|
UTSW |
8 |
105,036,143 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8683:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R8843:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R8860:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R8871:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R9093:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R9098:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R9528:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
RF041:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACATCCCATTGGCTGAGC -3'
(R):5'- TATACCATCCAGGCAGCGAC -3'
Sequencing Primer
(F):5'- TGCCAGAAGCTATCTCTGAATC -3'
(R):5'- GGCAGCGACCTTCAGTACAAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation