Incidental Mutation 'IGL01774:Gm5414'
| ID |
154030 |
| 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 # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101532463-101536623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101535410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 225
(D225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062879]
|
| AlphaFold |
Q6IFZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062879
AA Change: D225G
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: D225G
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
| Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
| Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
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 |
|
IGL01939:Gm5414
|
APN |
15 |
101,534,105 (GRCm39) |
splice site |
probably benign |
|
|
IGL02205:Gm5414
|
APN |
15 |
101,534,304 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
2014-02-04 |
Incidental Mutation