Incidental Mutation 'R5277:Cmtm1'
ID |
404006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmtm1
|
Ensembl Gene |
ENSMUSG00000110430 |
Gene Name |
CKLF-like MARVEL transmembrane domain containing 1 |
Synonyms |
CKLFH1, CHLFH1a, Cklfsf1 |
MMRRC Submission |
042864-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R5277 (G1)
|
Quality Score |
121 |
Status
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
Bco1 |
T |
A |
8: 117,844,128 (GRCm39) |
|
probably null |
Het |
Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
Dclre1a |
C |
T |
19: 56,533,164 (GRCm39) |
V477I |
possibly damaging |
Het |
Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
Fam13b |
G |
A |
18: 34,595,243 (GRCm39) |
R374C |
probably benign |
Het |
Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
Ric8b |
G |
A |
10: 84,783,516 (GRCm39) |
V125M |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
Wdr70 |
C |
T |
15: 8,006,465 (GRCm39) |
W362* |
probably null |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp7 |
T |
C |
15: 76,765,403 (GRCm39) |
V32A |
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 |
R4132:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
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 |
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'- AACATCCCATTGGCTGAGC -3'
(R):5'- TATACCATCCAGGCAGCGAC -3'
Sequencing Primer
(F):5'- TGCCAGAAGCTATCTCTGAATC -3'
(R):5'- GGCAGCGACCTTCAGTACAAG -3'
|
Posted On |
2016-07-22 |