Incidental Mutation 'R2900:Cmtm1'
| ID |
261442 |
| 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 |
040488-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R2900 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105020174-105036777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105036176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159039]
[ENSMUST00000160596]
[ENSMUST00000162616]
[ENSMUST00000164175]
|
| AlphaFold |
B7ZP21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159039
AA Change: V151A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430
AA Change: V151A
| 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 |
possibly damaging
Transcript: ENSMUST00000160596
AA Change: V151A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430
AA Change: V151A
| 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 |
possibly damaging
Transcript: ENSMUST00000162616
AA Change: V151A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876
AA Change: V151A
| 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 |
possibly damaging
Transcript: ENSMUST00000164175
AA Change: V107A
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430
AA Change: V107A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
C |
T |
10: 41,300,751 (GRCm39) |
H1654Y |
unknown |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,358,639 (GRCm39) |
I233V |
probably benign |
Het |
| Cyp26b1 |
C |
T |
6: 84,553,623 (GRCm39) |
R252H |
possibly damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,304,481 (GRCm39) |
D351E |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,448,584 (GRCm39) |
F1274S |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,313,923 (GRCm39) |
K33E |
probably benign |
Het |
| Gpsm1 |
G |
T |
2: 26,235,174 (GRCm39) |
V480L |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,788 (GRCm39) |
S107P |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,680,713 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Ms4a6d |
C |
T |
19: 11,567,508 (GRCm39) |
G23D |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,211 (GRCm39) |
D135E |
probably benign |
Het |
| Pdlim1 |
C |
T |
19: 40,211,519 (GRCm39) |
C258Y |
probably damaging |
Het |
| Ppp6r2 |
C |
A |
15: 89,166,198 (GRCm39) |
P734H |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stat5a |
G |
A |
11: 100,764,957 (GRCm39) |
V227M |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,939,034 (GRCm39) |
|
probably null |
Het |
| Syn2 |
C |
T |
6: 115,214,295 (GRCm39) |
T173I |
possibly damaging |
Het |
| Thbd |
C |
A |
2: 148,248,134 (GRCm39) |
*578L |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,786 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp566 |
T |
C |
7: 29,777,668 (GRCm39) |
D171G |
possibly damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,340 (GRCm39) |
R427G |
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 |
|
|
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 |
|
|
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'- CGAGTTGGTGGCACTTTCTC -3'
(R):5'- ATTCACAGGCGTATGCTGC -3'
Sequencing Primer
(F):5'- CACTTTCTCATGTTGGGTGTATTTC -3'
(R):5'- AGCCAGGGACCTTCAGTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation