Incidental Mutation 'R5403:Cmtm1'
ID |
430110 |
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 |
042974-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R5403 (G1)
|
Quality Score |
157 |
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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,489,323 (GRCm39) |
D392G |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
Alkbh8 |
A |
G |
9: 3,385,318 (GRCm39) |
K537E |
probably benign |
Het |
Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
Bpifb4 |
A |
T |
2: 153,785,912 (GRCm39) |
I17F |
probably damaging |
Het |
Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
Ccdc88b |
T |
A |
19: 6,835,108 (GRCm39) |
T38S |
unknown |
Het |
Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
Cdr2 |
G |
A |
7: 120,557,968 (GRCm39) |
Q186* |
probably null |
Het |
Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
G |
A |
13: 64,909,792 (GRCm39) |
T771I |
possibly damaging |
Het |
Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,482,809 (GRCm39) |
S87P |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,112 (GRCm39) |
S213P |
probably damaging |
Het |
Dlg2 |
A |
G |
7: 92,080,210 (GRCm39) |
T598A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,595,933 (GRCm39) |
D919E |
probably damaging |
Het |
Fndc9 |
C |
T |
11: 46,128,541 (GRCm39) |
S20L |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,501,813 (GRCm39) |
E145G |
probably damaging |
Het |
Hc |
A |
G |
2: 34,947,446 (GRCm39) |
Y23H |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
Jmy |
G |
T |
13: 93,577,904 (GRCm39) |
Q755K |
probably benign |
Het |
Krtap4-7 |
A |
T |
11: 99,534,540 (GRCm39) |
S108T |
unknown |
Het |
Mgat5b |
T |
G |
11: 116,839,483 (GRCm39) |
I333S |
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,877 (GRCm39) |
T519A |
probably damaging |
Het |
Naip6 |
G |
A |
13: 100,436,585 (GRCm39) |
A646V |
probably benign |
Het |
Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
Or8g22 |
G |
T |
9: 38,957,999 (GRCm39) |
P239T |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,644,617 (GRCm39) |
M1210L |
probably benign |
Het |
Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,586,108 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Tbcd |
C |
A |
11: 121,451,569 (GRCm39) |
N546K |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,538,034 (GRCm39) |
D1832G |
probably damaging |
Het |
Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
Ube2o |
A |
T |
11: 116,439,633 (GRCm39) |
I179N |
possibly damaging |
Het |
Usp17le |
T |
C |
7: 104,418,441 (GRCm39) |
I234V |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,262 (GRCm39) |
T382A |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,744 (GRCm39) |
K605E |
possibly damaging |
Het |
Zmynd10 |
T |
A |
9: 107,427,785 (GRCm39) |
L363H |
possibly 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 |
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 |
|
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 |
2016-09-06 |