Incidental Mutation 'IGL02979:Chtop'
| ID |
406474 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chtop
|
| Ensembl Gene |
ENSMUSG00000001017 |
| Gene Name |
chromatin target of PRMT1 |
| Synonyms |
Fop, 2500003M10Rik, friend of Prmt1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90406263-90416805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90407402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 161
(I161T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001043]
[ENSMUST00000049937]
[ENSMUST00000076639]
[ENSMUST00000107342]
[ENSMUST00000107343]
[ENSMUST00000107344]
[ENSMUST00000107346]
[ENSMUST00000146740]
[ENSMUST00000131868]
|
| AlphaFold |
Q9CY57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001043
AA Change: I161T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000001043
Gene: ENSMUSG00000001017
AA Change: I161T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
106 |
N/A |
INTRINSIC |
|
FoP_duplication
|
133 |
221 |
3.35e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049937
AA Change: I186T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000061800
Gene: ENSMUSG00000001017
AA Change: I186T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
131 |
N/A |
INTRINSIC |
|
FoP_duplication
|
158 |
246 |
3.35e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000076639
AA Change: I139T
|
| SMART Domains |
Protein: ENSMUSP00000075936
Gene: ENSMUSG00000001017
AA Change: I139T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
Blast:FoP_duplication
|
59 |
84 |
3e-6 |
BLAST |
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
FoP_duplication
|
114 |
199 |
1.21e-24 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107342
AA Change: I114T
|
| SMART Domains |
Protein: ENSMUSP00000102965
Gene: ENSMUSG00000001017
AA Change: I114T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Blast:FoP_duplication
|
34 |
59 |
3e-6 |
BLAST |
|
low complexity region
|
61 |
83 |
N/A |
INTRINSIC |
|
FoP_duplication
|
89 |
174 |
1.21e-24 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107343
AA Change: I115T
|
| SMART Domains |
Protein: ENSMUSP00000102966
Gene: ENSMUSG00000001017
AA Change: I115T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
84 |
N/A |
INTRINSIC |
|
FoP_duplication
|
90 |
175 |
1.21e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107344
AA Change: I161T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102967
Gene: ENSMUSG00000001017
AA Change: I161T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
106 |
N/A |
INTRINSIC |
|
FoP_duplication
|
133 |
221 |
3.35e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107346
AA Change: I140T
|
| SMART Domains |
Protein: ENSMUSP00000102969
Gene: ENSMUSG00000001017
AA Change: I140T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
109 |
N/A |
INTRINSIC |
|
FoP_duplication
|
115 |
200 |
1.21e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146740
|
| SMART Domains |
Protein: ENSMUSP00000116945
Gene: ENSMUSG00000001017
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131868
|
| SMART Domains |
Protein: ENSMUSP00000123448
Gene: ENSMUSG00000001017
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,104,408 (GRCm39) |
N412K |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,837,929 (GRCm39) |
T1646A |
probably benign |
Het |
| C8b |
T |
A |
4: 104,631,585 (GRCm39) |
S67T |
probably damaging |
Het |
| Cemip |
T |
A |
7: 83,652,514 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,808,090 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,038 (GRCm39) |
V1529A |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,075,140 (GRCm39) |
V388A |
possibly damaging |
Het |
| Dzank1 |
A |
G |
2: 144,330,658 (GRCm39) |
F466L |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,726,973 (GRCm39) |
D428G |
probably damaging |
Het |
| Fam20c |
C |
T |
5: 138,743,620 (GRCm39) |
P219S |
probably damaging |
Het |
| Hyls1 |
A |
T |
9: 35,472,970 (GRCm39) |
F149I |
probably benign |
Het |
| Kif13b |
A |
T |
14: 65,027,146 (GRCm39) |
Q1486L |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,928,940 (GRCm39) |
V274A |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,225,788 (GRCm39) |
V322A |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,819 (GRCm39) |
F28L |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,388,736 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
G |
A |
7: 3,633,598 (GRCm39) |
|
probably benign |
Het |
| Rock2 |
C |
A |
12: 17,027,941 (GRCm39) |
T1391K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,119,091 (GRCm39) |
I769V |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,988,190 (GRCm39) |
T416A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,661,347 (GRCm39) |
L600F |
probably damaging |
Het |
| Ttll5 |
A |
G |
12: 85,873,356 (GRCm39) |
E11G |
probably damaging |
Het |
| Uox |
A |
T |
3: 146,316,246 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
T |
C |
9: 74,086,838 (GRCm39) |
I602T |
probably damaging |
Het |
|
| Other mutations in Chtop |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02739:Chtop
|
APN |
3 |
90,409,557 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1672:Chtop
|
UTSW |
3 |
90,414,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2163:Chtop
|
UTSW |
3 |
90,409,518 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5728:Chtop
|
UTSW |
3 |
90,407,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Chtop
|
UTSW |
3 |
90,409,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7082:Chtop
|
UTSW |
3 |
90,414,891 (GRCm39) |
missense |
probably benign |
|
|
R7936:Chtop
|
UTSW |
3 |
90,414,658 (GRCm39) |
intron |
probably benign |
|
|
R8140:Chtop
|
UTSW |
3 |
90,412,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation