Incidental Mutation 'R6558:Chml'
| ID |
522224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chml
|
| Ensembl Gene |
ENSMUSG00000078185 |
| Gene Name |
choroideremia-like |
| Synonyms |
Rep2, E030003F13Rik |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175509803-175520198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 175514748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 391
(M391K)
|
| 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: M391K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: M391K
| 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: M48K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211207
AA Change: M391K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211489
|
| Meta Mutation Damage Score |
0.6979 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
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 |
|
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'- TGAGCACTGCCCTTGAGATC -3'
(R):5'- TAGAACAGGTGCCTTGCTCC -3'
Sequencing Primer
(F):5'- CTTGAGATCTGCTTATATTGCACG -3'
(R):5'- CTCAGTATGGTTGAAAAGAGAATGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation