Incidental Mutation 'R0665:Chml'
ID 61968
Institutional Source Beutler Lab
Gene Symbol Chml
Ensembl Gene ENSMUSG00000078185
Gene Name choroideremia-like
Synonyms Rep2, E030003F13Rik
MMRRC Submission 038850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R0665 (G1)
Quality Score 103
Status Not validated
Chromosome 1
Chromosomal Location 175509803-175520198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 175515461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 153 (E153D)
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: E153D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: E153D

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: E153D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000211489
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 A G 2: 90,631,554 (GRCm39) Y304C probably damaging Het
B3galt2 T C 1: 143,522,191 (GRCm39) V109A possibly damaging Het
Dap3 A T 3: 88,838,304 (GRCm39) C78* probably null Het
Dnah8 T C 17: 30,955,129 (GRCm39) F2053L probably damaging Het
Dppa3 A G 6: 122,606,939 (GRCm39) E143G probably damaging Het
Espnl T G 1: 91,262,409 (GRCm39) probably null Het
Fat3 C T 9: 15,908,698 (GRCm39) A2435T probably benign Het
Flnc G A 6: 29,455,530 (GRCm39) V2027M probably damaging Het
Gtf2h2 C T 13: 100,617,562 (GRCm39) G200E probably damaging Het
Gtpbp1 A G 15: 79,597,648 (GRCm39) I348V probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnk10 T C 12: 98,406,944 (GRCm39) I251V probably benign Het
Kri1 G A 9: 21,192,936 (GRCm39) probably benign Het
Lcmt1 G A 7: 123,002,094 (GRCm39) D120N probably damaging Het
Myom3 A G 4: 135,492,237 (GRCm39) D127G possibly damaging Het
Or12e1 A G 2: 87,022,652 (GRCm39) Y207C probably damaging Het
Or1j4 T C 2: 36,740,202 (GRCm39) L48P probably damaging Het
Or5w13 C T 2: 87,524,152 (GRCm39) V25I probably benign Het
Phyhd1 A G 2: 30,171,040 (GRCm39) H241R probably damaging Het
Ppp2r5d A T 17: 46,997,330 (GRCm39) N287K probably damaging Het
Ralgds A G 2: 28,435,218 (GRCm39) H458R probably damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Sdhc T C 1: 170,963,626 (GRCm39) Y80C probably damaging Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Triobp T C 15: 78,858,098 (GRCm39) L1233P possibly damaging Het
Trpc6 A C 9: 8,634,123 (GRCm39) T401P probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign Het
Other mutations in Chml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Chml APN 1 175,515,271 (GRCm39) missense probably benign 0.04
IGL01959:Chml APN 1 175,515,166 (GRCm39) missense probably benign 0.30
IGL01981:Chml APN 1 175,515,751 (GRCm39) missense probably damaging 0.98
IGL02321:Chml APN 1 175,519,900 (GRCm39) missense possibly damaging 0.73
IGL03206:Chml APN 1 175,515,303 (GRCm39) missense probably benign 0.00
R0323:Chml UTSW 1 175,514,650 (GRCm39) missense probably benign 0.23
R0504:Chml UTSW 1 175,514,748 (GRCm39) missense probably damaging 1.00
R1770:Chml UTSW 1 175,515,444 (GRCm39) missense probably benign 0.00
R1936:Chml UTSW 1 175,514,825 (GRCm39) nonsense probably null
R3864:Chml UTSW 1 175,515,810 (GRCm39) missense probably damaging 1.00
R4213:Chml UTSW 1 175,514,261 (GRCm39) missense probably damaging 1.00
R4271:Chml UTSW 1 175,515,360 (GRCm39) missense probably benign 0.16
R4576:Chml UTSW 1 175,514,506 (GRCm39) missense probably damaging 0.97
R4609:Chml UTSW 1 175,514,723 (GRCm39) nonsense probably null
R4649:Chml UTSW 1 175,514,962 (GRCm39) missense probably benign 0.04
R4922:Chml UTSW 1 175,514,712 (GRCm39) missense possibly damaging 0.89
R6007:Chml UTSW 1 175,515,594 (GRCm39) missense probably benign 0.00
R6090:Chml UTSW 1 175,514,624 (GRCm39) nonsense probably null
R6287:Chml UTSW 1 175,514,569 (GRCm39) missense probably benign 0.01
R6558:Chml UTSW 1 175,514,748 (GRCm39) missense probably damaging 1.00
R6944:Chml UTSW 1 175,515,727 (GRCm39) missense probably damaging 0.99
R7555:Chml UTSW 1 175,515,456 (GRCm39) missense probably benign 0.00
R7871:Chml UTSW 1 175,514,966 (GRCm39) frame shift probably null
R8459:Chml UTSW 1 175,515,597 (GRCm39) missense probably benign 0.01
R8963:Chml UTSW 1 175,514,601 (GRCm39) missense probably damaging 1.00
X0013:Chml UTSW 1 175,514,682 (GRCm39) missense probably benign 0.06
Z1176:Chml UTSW 1 175,515,328 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGTGACCCTTGAGAATACAGCGGC -3'
(R):5'- TGGCAAGACCTGATCCATGAAACAG -3'

Sequencing Primer
(F):5'- GAATACAGCGGCTTTGATACC -3'
(R):5'- TCTCTCTTCGCAAGAAGGATG -3'
Posted On 2013-07-30