Incidental Mutation 'R6822:Cmtm1'
ID 540724
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 044934-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R6822 (G1)
Quality Score 168.466
Status Not validated
Chromosome 8
Chromosomal Location 105020174-105036777 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG to TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG at 105036334 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 null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (46/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 G A 11: 102,667,501 (GRCm39) R687Q possibly damaging Het
AI987944 A G 7: 41,024,232 (GRCm39) L249P probably damaging Het
Ankrd28 T A 14: 31,458,797 (GRCm39) probably null Het
Bahcc1 T C 11: 120,178,547 (GRCm39) S2369P probably damaging Het
Birc6 T C 17: 74,887,377 (GRCm39) S902P possibly damaging Het
Birc6 A T 17: 74,905,039 (GRCm39) K1277N probably damaging Het
Brwd1 T C 16: 95,842,474 (GRCm39) E821G probably benign Het
Cct8l1 T C 5: 25,722,937 (GRCm39) S551P possibly damaging Het
Cyp2c39 A T 19: 39,525,261 (GRCm39) D188V probably damaging Het
Dclk3 G T 9: 111,268,405 (GRCm39) A25S probably benign Het
Dpep2 A T 8: 106,711,873 (GRCm39) M518K probably benign Het
Dst T C 1: 34,314,755 (GRCm39) V6462A probably damaging Het
Entpd3 T C 9: 120,391,104 (GRCm39) probably null Het
Epm2aip1 T C 9: 111,101,624 (GRCm39) V199A probably damaging Het
Fam193b A G 13: 55,689,504 (GRCm39) probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fcgbp T A 7: 27,806,781 (GRCm39) Y2250N probably damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
H2-Aa C T 17: 34,506,651 (GRCm39) probably null Het
Igsf9 T A 1: 172,324,730 (GRCm39) S883T possibly damaging Het
Kcnh7 T G 2: 62,618,248 (GRCm39) I414L probably damaging Het
Kcnma1 T C 14: 24,053,812 (GRCm39) probably null Het
Kcnmb1 T C 11: 33,914,686 (GRCm39) probably benign Het
Kmt2d A G 15: 98,747,340 (GRCm39) probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Map3k13 G A 16: 21,741,013 (GRCm39) S780N probably benign Het
Nlgn1 T C 3: 26,187,796 (GRCm39) T30A probably benign Het
Nucb1 A G 7: 45,148,289 (GRCm39) F175L probably damaging Het
Pax6 T A 2: 105,516,268 (GRCm39) V182E probably benign Het
Ptger1 A G 8: 84,395,279 (GRCm39) D252G probably benign Het
Rexo4 T C 2: 26,850,283 (GRCm39) D275G probably damaging Het
Ripk4 T C 16: 97,547,236 (GRCm39) D342G probably damaging Het
Rpl10l A T 12: 66,330,987 (GRCm39) C49S possibly damaging Het
Sema7a T C 9: 57,867,619 (GRCm39) F457S probably damaging Het
Shank3 G A 15: 89,415,830 (GRCm39) D155N probably damaging Het
Smpd3 G A 8: 106,992,596 (GRCm39) probably benign Het
Smpd4 T C 16: 17,458,097 (GRCm39) V465A probably damaging Het
Sohlh2 T C 3: 55,115,107 (GRCm39) V364A probably damaging Het
Sos2 C T 12: 69,697,423 (GRCm39) R99Q probably damaging Het
Spry2 G A 14: 106,130,791 (GRCm39) Q132* probably null Het
Tbx19 G T 1: 164,967,709 (GRCm39) P346Q probably damaging Het
Tdrd6 A G 17: 43,938,106 (GRCm39) Y981H probably damaging Het
Tinag T C 9: 76,938,984 (GRCm39) K165E probably benign Het
Tubb4a A T 17: 57,387,904 (GRCm39) I374N probably damaging Het
Umodl1 C T 17: 31,205,528 (GRCm39) Q708* probably null Het
Vmn2r3 A T 3: 64,194,876 (GRCm39) V14E probably benign Het
Zfp82 G A 7: 29,755,712 (GRCm39) L457F probably 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
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
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
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'- TGTGGCACGTACTGAAGGTC -3'
(R):5'- GCTTAACTTTACGACCTCGAGTG -3'

Sequencing Primer
(F):5'- ACGTACTGAAGGTCGCTGACTG -3'
(R):5'- ACCTTCGGATTCACAGGCGTATG -3'
Posted On 2018-11-16