Incidental Mutation 'IGL00770:Cmtm2a'
ID |
277886 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cmtm2a
|
Ensembl Gene |
ENSMUSG00000074127 |
Gene Name |
CKLF-like MARVEL transmembrane domain containing 2A |
Synonyms |
Cklf, 1700063K20Rik, 1700001K04Rik, ARR19, 1700041N15Rik, Cklfsf2a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL00770
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105007674-105019813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105019562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 43
(S43P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034344]
[ENSMUST00000159039]
[ENSMUST00000160596]
[ENSMUST00000162616]
[ENSMUST00000164175]
[ENSMUST00000212487]
[ENSMUST00000212492]
|
AlphaFold |
Q9DAR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034344
AA Change: S43P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034344 Gene: ENSMUSG00000074127 AA Change: S43P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
transmembrane domain
|
107 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
136 |
158 |
N/A |
INTRINSIC |
|
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 |
probably damaging
Transcript: ENSMUST00000212487
AA Change: S43P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212492
AA Change: S43P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
|
Other mutations in Cmtm2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00774:Cmtm2a
|
APN |
8 |
105,019,562 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01551:Cmtm2a
|
APN |
8 |
105,019,286 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03410:Cmtm2a
|
APN |
8 |
105,010,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Cmtm2a
|
UTSW |
8 |
105,019,655 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4092:Cmtm2a
|
UTSW |
8 |
105,019,403 (GRCm39) |
missense |
probably benign |
0.08 |
R5683:Cmtm2a
|
UTSW |
8 |
105,019,676 (GRCm39) |
splice site |
probably null |
|
R5735:Cmtm2a
|
UTSW |
8 |
105,019,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Cmtm2a
|
UTSW |
8 |
105,019,362 (GRCm39) |
missense |
probably benign |
0.29 |
R8125:Cmtm2a
|
UTSW |
8 |
105,019,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8195:Cmtm2a
|
UTSW |
8 |
105,019,670 (GRCm39) |
missense |
probably benign |
|
R8838:Cmtm2a
|
UTSW |
8 |
105,008,036 (GRCm39) |
missense |
probably damaging |
0.99 |
R9001:Cmtm2a
|
UTSW |
8 |
105,019,376 (GRCm39) |
missense |
probably benign |
0.15 |
R9219:Cmtm2a
|
UTSW |
8 |
105,008,101 (GRCm39) |
missense |
probably damaging |
0.99 |
R9615:Cmtm2a
|
UTSW |
8 |
105,019,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |