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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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