Incidental Mutation 'IGL03410:Cmtm2a'
ID421747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtm2a
Ensembl Gene ENSMUSG00000074127
Gene NameCKLF-like MARVEL transmembrane domain containing 2A
Synonyms1700063K20Rik, Cklfsf2a, Cklf, 1700001K04Rik, ARR19, 1700041N15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.030) question?
Stock #IGL03410
Quality Score
Status
Chromosome8
Chromosomal Location104281042-104293181 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 104283869 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 133 (P133T)
Ref Sequence ENSEMBL: ENSMUSP00000034344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034344] [ENSMUST00000162616] [ENSMUST00000212492]
Predicted Effect probably damaging
Transcript: ENSMUST00000034344
AA Change: P133T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034344
Gene: ENSMUSG00000074127
AA Change: P133T

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: 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: ENSMUST00000212492
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cyp2d9 T C 15: 82,456,699 V483A probably benign Het
Dclre1b T A 3: 103,808,140 D14V probably damaging Het
Dock5 T C 14: 67,846,086 I125V probably benign Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lars2 G A 9: 123,418,776 A333T possibly damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Stxbp3 C T 3: 108,802,160 C354Y probably damaging Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Ube2d3 T A 3: 135,465,217 W141R probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Cmtm2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Cmtm2a APN 8 104292930 missense probably damaging 0.99
IGL00774:Cmtm2a APN 8 104292930 missense probably damaging 0.99
IGL01551:Cmtm2a APN 8 104292654 missense probably damaging 0.98
R2122:Cmtm2a UTSW 8 104293023 missense possibly damaging 0.55
R4092:Cmtm2a UTSW 8 104292771 missense probably benign 0.08
R5683:Cmtm2a UTSW 8 104293044 unclassified probably null
R5735:Cmtm2a UTSW 8 104292786 missense probably damaging 1.00
R6133:Cmtm2a UTSW 8 104292730 missense probably benign 0.29
Posted On2016-08-02