Incidental Mutation 'R6558:Chml'
ID 522224
Institutional Source Beutler Lab
Gene Symbol Chml
Ensembl Gene ENSMUSG00000078185
Gene Name choroideremia-like
Synonyms E030003F13Rik, Rep2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6558 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 175682237-175692901 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 175687182 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 391 (M391K)
Ref Sequence ENSEMBL: ENSMUSP00000147889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027809] [ENSMUST00000104984] [ENSMUST00000209720] [ENSMUST00000210367] [ENSMUST00000211207] [ENSMUST00000211489]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027809
SMART Domains Protein: ENSMUSP00000027809
Gene: ENSMUSG00000026525

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Pfam:7tm_1 56 307 4.7e-36 PFAM
low complexity region 314 331 N/A INTRINSIC
low complexity region 363 375 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000104984
AA Change: M391K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: M391K

DomainStartEndE-ValueType
Pfam:GDI 5 106 3.1e-14 PFAM
Pfam:GDI 200 534 1e-49 PFAM
low complexity region 598 618 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209720
Predicted Effect probably damaging
Transcript: ENSMUST00000210367
AA Change: M48K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211207
AA Change: M391K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211489
Meta Mutation Damage Score 0.6979 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T C 10: 20,963,673 V161A probably damaging Het
Anxa3 A G 5: 96,812,939 probably null Het
Cftr T C 6: 18,222,528 I261T probably damaging Het
Cog2 T C 8: 124,550,232 L659P probably damaging Het
Col5a3 C T 9: 20,779,033 G1162R probably damaging Het
Cxcl2 T C 5: 90,904,365 L71P probably damaging Het
Cxcl5 A G 5: 90,759,818 E83G probably damaging Het
Dpt A G 1: 164,796,811 Y27C unknown Het
Drc3 A T 11: 60,364,892 I102F probably damaging Het
Fam83h T C 15: 76,004,453 D345G probably damaging Het
Gm14412 G T 2: 177,314,554 T516K probably damaging Het
Grip1 A G 10: 119,454,383 N7D probably benign Het
Hoxc11 T C 15: 102,954,866 L114P probably damaging Het
Htr7 T C 19: 36,057,240 N5S probably damaging Het
Ifi208 C T 1: 173,683,023 T248I probably damaging Het
Lrrc71 G A 3: 87,742,643 T326M probably benign Het
Map7d1 G A 4: 126,232,909 A798V unknown Het
Mfsd13a T A 19: 46,366,478 N31K probably damaging Het
Myadm T A 7: 3,297,061 I113N probably damaging Het
Myo18a A G 11: 77,850,852 E1509G probably damaging Het
Nalcn C G 14: 123,486,507 R382P probably benign Het
Ogfr C T 2: 180,595,404 P594L possibly damaging Het
Olfr458 T A 6: 42,460,777 M81L probably benign Het
Olfr508 T A 7: 108,630,188 H65Q probably damaging Het
Pkd1l1 C T 11: 8,889,052 M877I probably benign Het
Sec23a A T 12: 59,004,552 S102T probably benign Het
Stoml1 T A 9: 58,256,668 V90E probably damaging Het
Stra8 G A 6: 34,933,040 W111* probably null Het
Timeless T A 10: 128,249,563 V850D probably benign Het
Unc5c A T 3: 141,789,729 D453V probably damaging Het
Xdh T G 17: 73,893,713 T1138P possibly damaging Het
Zkscan6 A T 11: 65,828,225 H357L probably benign Het
Other mutations in Chml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Chml APN 1 175687705 missense probably benign 0.04
IGL01959:Chml APN 1 175687600 missense probably benign 0.30
IGL01981:Chml APN 1 175688185 missense probably damaging 0.98
IGL02321:Chml APN 1 175692334 missense possibly damaging 0.73
IGL03206:Chml APN 1 175687737 missense probably benign 0.00
R0323:Chml UTSW 1 175687084 missense probably benign 0.23
R0504:Chml UTSW 1 175687182 missense probably damaging 1.00
R0665:Chml UTSW 1 175687895 missense probably benign 0.01
R1770:Chml UTSW 1 175687878 missense probably benign 0.00
R1936:Chml UTSW 1 175687259 nonsense probably null
R3864:Chml UTSW 1 175688244 missense probably damaging 1.00
R4213:Chml UTSW 1 175686695 missense probably damaging 1.00
R4271:Chml UTSW 1 175687794 missense probably benign 0.16
R4576:Chml UTSW 1 175686940 missense probably damaging 0.97
R4609:Chml UTSW 1 175687157 nonsense probably null
R4649:Chml UTSW 1 175687396 missense probably benign 0.04
R4922:Chml UTSW 1 175687146 missense possibly damaging 0.89
R6007:Chml UTSW 1 175688028 missense probably benign 0.00
R6090:Chml UTSW 1 175687058 nonsense probably null
R6287:Chml UTSW 1 175687003 missense probably benign 0.01
R6944:Chml UTSW 1 175688161 missense probably damaging 0.99
R7555:Chml UTSW 1 175687890 missense probably benign 0.00
R7871:Chml UTSW 1 175687400 frame shift probably null
R8459:Chml UTSW 1 175688031 missense probably benign 0.01
R8963:Chml UTSW 1 175687035 missense probably damaging 1.00
X0013:Chml UTSW 1 175687116 missense probably benign 0.06
Z1176:Chml UTSW 1 175687762 missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGAGCACTGCCCTTGAGATC -3'
(R):5'- TAGAACAGGTGCCTTGCTCC -3'

Sequencing Primer
(F):5'- CTTGAGATCTGCTTATATTGCACG -3'
(R):5'- CTCAGTATGGTTGAAAAGAGAATGC -3'
Posted On 2018-06-06