Incidental Mutation 'R3864:Chml'
| ID |
276447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chml
|
| Ensembl Gene |
ENSMUSG00000078185 |
| Gene Name |
choroideremia-like |
| Synonyms |
Rep2, E030003F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R3864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
175509803-175520198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 175515810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 37
(V37D)
|
| 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 damaging
Transcript: ENSMUST00000104984
AA Change: V37D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: V37D
| 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 damaging
Transcript: ENSMUST00000211207
AA Change: V37D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211489
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
A |
11: 116,487,642 (GRCm39) |
G114S |
probably damaging |
Het |
| Abcc4 |
G |
A |
14: 118,853,827 (GRCm39) |
A360V |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,204 (GRCm39) |
S146P |
possibly damaging |
Het |
| Ccny |
A |
T |
18: 9,449,604 (GRCm39) |
L23Q |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,459,485 (GRCm39) |
T1339A |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,680,071 (GRCm39) |
V422E |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
| Gm10309 |
A |
C |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,752,421 (GRCm39) |
R974W |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,665,929 (GRCm39) |
*619Q |
probably null |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,510 (GRCm39) |
V765A |
probably damaging |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| Mfn1 |
A |
G |
3: 32,617,241 (GRCm39) |
D41G |
possibly damaging |
Het |
| Naa25 |
T |
A |
5: 121,547,260 (GRCm39) |
M132K |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Scfd2 |
T |
G |
5: 74,558,381 (GRCm39) |
K499Q |
possibly damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,484 (GRCm39) |
D442G |
probably benign |
Het |
| Wwc1 |
T |
A |
11: 35,801,143 (GRCm39) |
D98V |
probably damaging |
Het |
| Zfp426 |
G |
A |
9: 20,381,382 (GRCm39) |
T521I |
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 |
|
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 |
|
R1936:Chml
|
UTSW |
1 |
175,514,825 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGAGTCTCGGTGTCTTGCAC -3'
(R):5'- GCCCTCAACCTAGATCTATACGG -3'
Sequencing Primer
(F):5'- AGAAGACTTCTGTGTGCTGAATAG -3'
(R):5'- TCAACCTAGATCTATACGGTGTTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation