Incidental Mutation 'IGL02290:Faxc'
| ID |
290050 |
| 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 # |
IGL02290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
21931329-21996839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21993390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 345
(S345T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029908]
|
| AlphaFold |
Q3UMF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029908
AA Change: S345T
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: S345T
| 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: ENSMUST00000123481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124440
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 61,001,344 (GRCm39) |
P128S |
probably damaging |
Het |
| Abca9 |
A |
G |
11: 110,026,177 (GRCm39) |
V961A |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,051,821 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,313,460 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,144,163 (GRCm39) |
D617G |
probably damaging |
Het |
| Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
| Ganc |
C |
T |
2: 120,278,904 (GRCm39) |
T707I |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,918,679 (GRCm39) |
V55A |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,893,360 (GRCm39) |
I156F |
probably benign |
Het |
| Mtrf1 |
G |
T |
14: 79,639,251 (GRCm39) |
E128* |
probably null |
Het |
| Ndc1 |
T |
C |
4: 107,252,192 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
A |
C |
3: 87,689,078 (GRCm39) |
N537K |
probably benign |
Het |
| Or1e17 |
A |
G |
11: 73,831,695 (GRCm39) |
I208V |
probably benign |
Het |
| Or4p23 |
T |
C |
2: 88,576,729 (GRCm39) |
T168A |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,603,508 (GRCm39) |
I1053T |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,705,741 (GRCm39) |
L643Q |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,560,119 (GRCm39) |
P24T |
probably benign |
Het |
| Vmn1r78 |
A |
G |
7: 11,887,082 (GRCm39) |
E231G |
probably damaging |
Het |
| Vmn2r124 |
T |
G |
17: 18,293,597 (GRCm39) |
H561Q |
probably benign |
Het |
| Zbtb12 |
G |
A |
17: 35,114,448 (GRCm39) |
A78T |
probably damaging |
Het |
| Zp3r |
C |
T |
1: 130,547,102 (GRCm39) |
V25I |
possibly damaging |
Het |
|
| Other mutations in Faxc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Faxc
|
APN |
4 |
21,948,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation