Incidental Mutation 'R6007:Chml'
ID 479519
Institutional Source Beutler Lab
Gene Symbol Chml
Ensembl Gene ENSMUSG00000078185
Gene Name choroideremia-like
Synonyms E030003F13Rik, Rep2
MMRRC Submission 044184-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6007 (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 G at 175688028 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
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 benign
Transcript: ENSMUST00000104984
AA Change: V109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: V109A

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 benign
Transcript: ENSMUST00000210367
Predicted Effect probably benign
Transcript: ENSMUST00000211207
AA Change: V109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211489
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.6%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik G T 6: 83,160,918 A9S possibly damaging Het
4930407I10Rik C G 15: 82,062,739 T279S probably benign Het
A830018L16Rik A G 1: 11,511,916 probably null Het
Abcg5 T G 17: 84,668,964 I482L probably benign Het
Adgrf5 T A 17: 43,437,571 D44E probably damaging Het
Amh A G 10: 80,805,471 N75S probably benign Het
Arl8a T C 1: 135,152,868 probably null Het
Bpifb4 T C 2: 153,942,560 Y63H possibly damaging Het
Chd5 A T 4: 152,379,421 E1449V probably null Het
Crybg3 G T 16: 59,554,474 S2139* probably null Het
Cyp2c68 T C 19: 39,734,336 D256G probably damaging Het
Dchs2 G T 3: 83,346,227 V2315L probably damaging Het
Ddx20 T C 3: 105,683,420 I227V possibly damaging Het
Drg2 T C 11: 60,462,625 V266A possibly damaging Het
Flcn C A 11: 59,792,622 E576D probably benign Het
Fstl5 T A 3: 76,410,592 D188E probably damaging Het
Gm14496 A G 2: 181,997,530 Q471R probably benign Het
Gm43772 T C 5: 66,174,991 probably benign Het
Gpc6 C T 14: 117,951,261 H436Y probably damaging Het
Gpr179 A T 11: 97,335,802 C1842* probably null Het
Ints8 G A 4: 11,208,845 T934I possibly damaging Het
Iqsec1 G T 6: 90,660,987 C1050* probably null Het
Larp4b T C 13: 9,168,757 V510A probably benign Het
Map3k13 A T 16: 21,905,183 D305V possibly damaging Het
Mc5r A T 18: 68,339,247 I226F possibly damaging Het
Mme G A 3: 63,343,508 W323* probably null Het
Mrpl24 A G 3: 87,922,398 Y97C probably benign Het
Mslnl G A 17: 25,746,775 S541N probably benign Het
Npepl1 T C 2: 174,121,057 V412A probably benign Het
Nrg3 T A 14: 39,472,452 K117* probably null Het
Olfr1275 T C 2: 111,230,930 T288A probably benign Het
Olfr736 G T 14: 50,393,491 C245F probably damaging Het
Orc2 A T 1: 58,467,692 M447K probably benign Het
Phf3 A T 1: 30,804,345 H1844Q probably damaging Het
Plxnc1 T C 10: 94,793,290 I1541V possibly damaging Het
Rapgef4 T C 2: 72,179,949 Y284H possibly damaging Het
Rnf180 C A 13: 105,181,449 probably null Het
Secisbp2 T C 13: 51,665,359 I325T probably damaging Het
Sertad2 G A 11: 20,647,884 G27S probably benign Het
Slc4a10 A G 2: 62,268,872 M625V probably benign Het
Synpo T A 18: 60,603,615 M420L probably benign Het
Tmem116 A C 5: 121,517,892 *147C probably null Het
Top2b G A 14: 16,423,779 probably null Het
Trp53bp2 T A 1: 182,455,740 C1014S probably damaging Het
Unc5b A G 10: 60,765,360 F896L probably damaging Het
Vil1 T C 1: 74,419,867 W177R probably damaging Het
Vmn2r107 A T 17: 20,375,054 Y623F probably benign Het
Vmn2r86 T C 10: 130,453,666 Y120C probably damaging Het
Wdr18 A G 10: 79,965,343 T197A possibly damaging Het
Ylpm1 A G 12: 85,029,290 M472V probably benign Het
Zfp647 G A 15: 76,912,085 P125L probably damaging Het
Zfp677 A G 17: 21,397,656 Y325C probably damaging Het
Zfyve1 A G 12: 83,558,704 F407S probably damaging 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
R6090:Chml UTSW 1 175687058 nonsense probably null
R6287:Chml UTSW 1 175687003 missense probably benign 0.01
R6558:Chml UTSW 1 175687182 missense probably damaging 1.00
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'- TCCAGTGAGTCCTCCACATTAG -3'
(R):5'- GGAATTGGGCGAGTTTCAGC -3'

Sequencing Primer
(F):5'- AGTGAGTCCTCCACATTAGCTGAG -3'
(R):5'- AGCTTTACAGGTTTGCAGTCC -3'
Posted On 2017-06-26