Incidental Mutation 'IGL03206:Chml'
| ID |
413128 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chml
|
| Ensembl Gene |
ENSMUSG00000078185 |
| Gene Name |
choroideremia-like |
| Synonyms |
Rep2, E030003F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL03206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175509803-175520198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 175515303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 206
(D206G)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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: D206G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: D206G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D206G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211489
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
| Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,394,430 (GRCm39) |
N128K |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,204 (GRCm39) |
L91P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
| Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
| Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
| Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,148,660 (GRCm39) |
Y1018N |
possibly damaging |
Het |
| Ndrg1 |
C |
T |
15: 66,814,936 (GRCm39) |
W172* |
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
| Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
| Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,883,261 (GRCm39) |
D94E |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,024,878 (GRCm39) |
L207H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
| Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
| Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
| Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
| Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly damaging |
Het |
|
| Other mutations in Chml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation