Incidental Mutation 'IGL02205:Gm5414'
| ID |
284427 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5414
|
| Ensembl Gene |
ENSMUSG00000064232 |
| Gene Name |
predicted gene 5414 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101532463-101536623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101534304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 267
(F267L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062879]
|
| AlphaFold |
Q6IFZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062879
AA Change: F267L
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: F267L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
15 |
148 |
3.3e-29 |
PFAM |
|
Filament
|
151 |
464 |
1.4e-143 |
SMART |
|
low complexity region
|
489 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
549 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
| Other mutations in Gm5414 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Gm5414
|
APN |
15 |
101,536,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01774:Gm5414
|
APN |
15 |
101,535,410 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01939:Gm5414
|
APN |
15 |
101,534,105 (GRCm39) |
splice site |
probably benign |
|
|
IGL02411:Gm5414
|
APN |
15 |
101,536,269 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02720:Gm5414
|
APN |
15 |
101,533,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Gm5414
|
APN |
15 |
101,536,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03283:Gm5414
|
APN |
15 |
101,535,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4480001:Gm5414
|
UTSW |
15 |
101,536,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Gm5414
|
UTSW |
15 |
101,534,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1905:Gm5414
|
UTSW |
15 |
101,533,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Gm5414
|
UTSW |
15 |
101,536,495 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3011:Gm5414
|
UTSW |
15 |
101,534,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3033:Gm5414
|
UTSW |
15 |
101,533,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Gm5414
|
UTSW |
15 |
101,533,988 (GRCm39) |
missense |
probably benign |
|
|
R4257:Gm5414
|
UTSW |
15 |
101,533,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Gm5414
|
UTSW |
15 |
101,534,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Gm5414
|
UTSW |
15 |
101,536,543 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4912:Gm5414
|
UTSW |
15 |
101,533,445 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5095:Gm5414
|
UTSW |
15 |
101,532,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5135:Gm5414
|
UTSW |
15 |
101,536,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5177:Gm5414
|
UTSW |
15 |
101,534,252 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5330:Gm5414
|
UTSW |
15 |
101,533,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Gm5414
|
UTSW |
15 |
101,533,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Gm5414
|
UTSW |
15 |
101,533,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Gm5414
|
UTSW |
15 |
101,536,422 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5623:Gm5414
|
UTSW |
15 |
101,534,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6781:Gm5414
|
UTSW |
15 |
101,534,096 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8298:Gm5414
|
UTSW |
15 |
101,532,605 (GRCm39) |
missense |
unknown |
|
|
R8912:Gm5414
|
UTSW |
15 |
101,536,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9092:Gm5414
|
UTSW |
15 |
101,536,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9721:Gm5414
|
UTSW |
15 |
101,536,582 (GRCm39) |
nonsense |
probably null |
|
|
RF001:Gm5414
|
UTSW |
15 |
101,536,388 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation