Incidental Mutation 'R5731:Cmtm1'
ID 452766
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 043192-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R5731 (G1)
Quality Score 116
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A G 8: 33,919,353 (GRCm39) I58V unknown Het
Abca4 G T 3: 121,926,242 (GRCm39) G18V probably damaging Het
Arl9 T C 5: 77,154,374 (GRCm39) V34A possibly damaging Het
Bpifb9a A T 2: 154,104,163 (GRCm39) N202I possibly damaging Het
C1qtnf6 A T 15: 78,411,514 (GRCm39) M54K probably benign Het
Ccdc62 T C 5: 124,089,352 (GRCm39) probably null Het
Cd177 A G 7: 24,443,846 (GRCm39) C751R probably damaging Het
Clcn3 T C 8: 61,375,923 (GRCm39) I657V possibly damaging Het
Dag1 T C 9: 108,095,310 (GRCm39) T61A probably benign Het
Fam184b C T 5: 45,710,471 (GRCm39) G553E probably benign Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Flt1 T C 5: 147,614,962 (GRCm39) H328R probably benign Het
Fmnl2 T A 2: 53,008,149 (GRCm39) probably null Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gprin2 C A 14: 33,917,397 (GRCm39) L124F probably damaging Het
Hacd2 T A 16: 34,922,374 (GRCm39) Y188N probably damaging Het
Itgad A G 7: 127,797,726 (GRCm39) T950A probably benign Het
Kit T A 5: 75,815,075 (GRCm39) I933N possibly damaging Het
Klhl11 A T 11: 100,354,589 (GRCm39) Y411N probably damaging Het
N4bp2 T C 5: 65,966,500 (GRCm39) S1313P probably damaging Het
Neurog1 T C 13: 56,399,354 (GRCm39) K131R probably damaging Het
Or11h6 T C 14: 50,880,248 (GRCm39) L170P probably damaging Het
Or5d16 T A 2: 87,773,771 (GRCm39) H67L possibly damaging Het
Otogl T C 10: 107,717,325 (GRCm39) D382G probably damaging Het
Pcdh1 A C 18: 38,331,651 (GRCm39) F590V probably damaging Het
Pcdha5 G A 18: 37,093,820 (GRCm39) V110M probably damaging Het
Pdlim3 A G 8: 46,368,284 (GRCm39) N261D probably benign Het
Pou4f1 T C 14: 104,703,347 (GRCm39) T362A unknown Het
Prlr A G 15: 10,314,221 (GRCm39) T9A probably benign Het
Psmb7 T C 2: 38,478,289 (GRCm39) Y245C probably damaging Het
Ryr3 T A 2: 112,471,917 (GRCm39) D4515V probably damaging Het
Svop T C 5: 114,198,124 (GRCm39) K149E probably damaging Het
Tlr3 A G 8: 45,851,157 (GRCm39) V56A probably benign Het
Tm4sf20 T G 1: 82,738,013 (GRCm39) I93L probably benign Het
Ugt2b5 T A 5: 87,288,111 (GRCm39) R19* probably null Het
Vmn2r28 G T 7: 5,491,668 (GRCm39) T193K probably benign Het
Vps13c A G 9: 67,802,661 (GRCm39) D654G probably damaging Het
Zfyve16 T A 13: 92,644,701 (GRCm39) Q1167L probably benign 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
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
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'- CTTCAACATCCCATTGGCTGAG -3'
(R):5'- TATACCATCCAGGCAGCGAC -3'

Sequencing Primer
(F):5'- TGCCAGAAGCTATCTCTGAATC -3'
(R):5'- GGCAGCGACCTTCAGTACAAG -3'
Posted On 2017-01-03