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) question?
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

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 noncoding transcript
Transcript: ENSMUST00000212847
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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