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)
|
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
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: E153D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000100600 Gene: ENSMUSG00000078185 AA Change: E153D
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |