Incidental Mutation 'R4213:Chml'
| ID |
319286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chml
|
| Ensembl Gene |
ENSMUSG00000078185 |
| Gene Name |
choroideremia-like |
| Synonyms |
Rep2, E030003F13Rik |
| MMRRC Submission |
041040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R4213 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175509803-175520198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 175514261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 210
(F210L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147761
(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: F553L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: F553L
| 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 damaging
Transcript: ENSMUST00000210367
AA Change: F210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211207
AA Change: F553L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211489
|
| Meta Mutation Damage Score |
0.1879 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
97% (38/39) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
C |
8: 123,617,765 (GRCm39) |
V2029G |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,178,988 (GRCm39) |
V291E |
probably benign |
Het |
| Cad |
G |
A |
5: 31,229,688 (GRCm39) |
V1390I |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,599,462 (GRCm39) |
D281E |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,008 (GRCm39) |
T655I |
probably damaging |
Het |
| Cep350 |
C |
G |
1: 155,811,707 (GRCm39) |
G411A |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,430,865 (GRCm39) |
M1679K |
unknown |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,525,225 (GRCm39) |
F527V |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,960 (GRCm39) |
T298I |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,731,571 (GRCm39) |
L731P |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,989,581 (GRCm39) |
T343A |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,011,106 (GRCm39) |
L72P |
probably damaging |
Het |
| Gpr137c |
G |
A |
14: 45,483,965 (GRCm39) |
E231K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,183,139 (GRCm39) |
N1112S |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kplce |
G |
A |
3: 92,776,434 (GRCm39) |
P83L |
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,506 (GRCm39) |
T87P |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,465 (GRCm39) |
Y169C |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,824,553 (GRCm39) |
A510S |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,038 (GRCm39) |
E1275K |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,629,418 (GRCm39) |
G92V |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,018 (GRCm39) |
T185A |
probably damaging |
Het |
| Yjefn3 |
G |
T |
8: 70,343,540 (GRCm39) |
H50Q |
probably benign |
Het |
| Zswim1 |
T |
C |
2: 164,667,705 (GRCm39) |
V319A |
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 |
|
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 |
|
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'- AGCTTCAAAGATGATGTCTTCAGG -3'
(R):5'- CACTTCTGTTCGGGTCATGG -3'
Sequencing Primer
(F):5'- CAAAGATGATGTCTTCAGGGTTTG -3'
(R):5'- GGTCATGGAATTATGTTCGTCAACC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation