Incidental Mutation 'R1936:Chml'
ID 215757
Institutional Source Beutler Lab
Gene Symbol Chml
Ensembl Gene ENSMUSG00000078185
Gene Name choroideremia-like
Synonyms Rep2, E030003F13Rik
MMRRC Submission 039954-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 175509803-175520198 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 175514825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 365 (C365*)
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 null
Transcript: ENSMUST00000104984
AA Change: C365*
SMART Domains Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: C365*

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 null
Transcript: ENSMUST00000210367
AA Change: C22*
Predicted Effect probably null
Transcript: ENSMUST00000211207
AA Change: C365*
Predicted Effect probably benign
Transcript: ENSMUST00000211489
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
R0665:Chml UTSW 1 175,515,461 (GRCm39) missense probably benign 0.01
R1770:Chml UTSW 1 175,515,444 (GRCm39) missense probably benign 0.00
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'- GACCAAAGGCATCTATGATTCCTTTAC -3'
(R):5'- TAGAACAGGTGCCTTGCTCC -3'

Sequencing Primer
(F):5'- ACATCTTCCAGAGTCTTTGTCAAC -3'
(R):5'- CTCAGTATGGTTGAAAAGAGAATGC -3'
Posted On 2014-07-14