Incidental Mutation 'IGL00391:Faxc'
| ID |
6703 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Faxc
|
| Ensembl Gene |
ENSMUSG00000028246 |
| Gene Name |
failed axon connections homolog |
| Synonyms |
6230409E13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
21931329-21996839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21948725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 146
(K146E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029908]
|
| AlphaFold |
Q3UMF9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029908
AA Change: K146E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: K146E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
82 |
N/A |
INTRINSIC |
|
SCOP:d1k0ma2
|
93 |
172 |
1e-3 |
SMART |
|
Pfam:GST_C_3
|
197 |
328 |
1.5e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124440
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
| Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Faxc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Faxc
|
APN |
4 |
21,958,490 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01714:Faxc
|
APN |
4 |
21,936,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Faxc
|
APN |
4 |
21,993,486 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02290:Faxc
|
APN |
4 |
21,993,390 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03271:Faxc
|
APN |
4 |
21,948,757 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0131:Faxc
|
UTSW |
4 |
21,936,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Faxc
|
UTSW |
4 |
21,948,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0615:Faxc
|
UTSW |
4 |
21,958,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1973:Faxc
|
UTSW |
4 |
21,993,405 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2027:Faxc
|
UTSW |
4 |
21,958,439 (GRCm39) |
splice site |
probably benign |
|
|
R2181:Faxc
|
UTSW |
4 |
21,931,591 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4243:Faxc
|
UTSW |
4 |
21,982,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4845:Faxc
|
UTSW |
4 |
21,993,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Faxc
|
UTSW |
4 |
21,948,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Faxc
|
UTSW |
4 |
21,931,557 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6187:Faxc
|
UTSW |
4 |
21,958,445 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6237:Faxc
|
UTSW |
4 |
21,993,376 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6721:Faxc
|
UTSW |
4 |
21,982,672 (GRCm39) |
splice site |
probably null |
|
|
R6825:Faxc
|
UTSW |
4 |
21,931,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7841:Faxc
|
UTSW |
4 |
21,958,584 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8351:Faxc
|
UTSW |
4 |
21,932,046 (GRCm39) |
splice site |
probably null |
|
|
R8491:Faxc
|
UTSW |
4 |
21,993,319 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8905:Faxc
|
UTSW |
4 |
21,982,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Faxc
|
UTSW |
4 |
21,993,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation