Incidental Mutation 'IGL01594:Fem1c'
| ID |
91679 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fem1c
|
| Ensembl Gene |
ENSMUSG00000033319 |
| Gene Name |
fem 1 homolog c |
| Synonyms |
2610312A07Rik, 3632443A22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
46637673-46659038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 46639343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 220
(S220A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036226]
|
| AlphaFold |
Q8CEF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036226
AA Change: S220A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038816
Gene: ENSMUSG00000033319
AA Change: S220A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
2 |
31 |
1.12e3 |
SMART |
|
ANK
|
40 |
70 |
1.51e-4 |
SMART |
|
ANK
|
82 |
111 |
2.77e-3 |
SMART |
|
ANK
|
115 |
144 |
1.12e-3 |
SMART |
|
ANK
|
148 |
177 |
7.24e-7 |
SMART |
|
ANK
|
181 |
210 |
9.13e-4 |
SMART |
|
ANK
|
213 |
243 |
5.67e0 |
SMART |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
ANK
|
481 |
523 |
5.67e0 |
SMART |
|
ANK
|
527 |
556 |
1.88e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are fertile and show no overt abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,996,071 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
T |
2: 150,463,450 (GRCm39) |
V618E |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,310,084 (GRCm39) |
N774D |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,932 (GRCm39) |
V134A |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,492,635 (GRCm39) |
T3169S |
probably benign |
Het |
| D030068K23Rik |
T |
A |
8: 109,978,009 (GRCm39) |
Q52L |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,311,480 (GRCm39) |
S1820P |
possibly damaging |
Het |
| Gm10305 |
G |
A |
4: 99,161,414 (GRCm39) |
D108N |
unknown |
Het |
| Gtdc1 |
A |
G |
2: 44,481,891 (GRCm39) |
|
probably null |
Het |
| Il2ra |
T |
C |
2: 11,685,207 (GRCm39) |
V181A |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,454 (GRCm39) |
I84T |
probably damaging |
Het |
| Map3k1 |
T |
A |
13: 111,894,723 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
G |
10: 41,356,325 (GRCm39) |
Y293D |
probably damaging |
Het |
| Mpzl1 |
T |
C |
1: 165,421,161 (GRCm39) |
D266G |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,134,254 (GRCm39) |
M24I |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,401,581 (GRCm39) |
V21D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,258,149 (GRCm39) |
C525R |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,271,139 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,537,981 (GRCm39) |
F4S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,603,073 (GRCm39) |
T2457I |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,775 (GRCm39) |
I1657T |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,884 (GRCm39) |
S888P |
probably damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,538,122 (GRCm39) |
Y148* |
probably null |
Het |
| Tex10 |
T |
C |
4: 48,469,906 (GRCm39) |
N53S |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,022 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,495 (GRCm39) |
S513G |
possibly damaging |
Het |
|
| Other mutations in Fem1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01895:Fem1c
|
APN |
18 |
46,638,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02612:Fem1c
|
APN |
18 |
46,638,781 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02628:Fem1c
|
APN |
18 |
46,639,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Fem1c
|
UTSW |
18 |
46,638,227 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0655:Fem1c
|
UTSW |
18 |
46,638,227 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0735:Fem1c
|
UTSW |
18 |
46,638,227 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1476:Fem1c
|
UTSW |
18 |
46,657,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Fem1c
|
UTSW |
18 |
46,657,280 (GRCm39) |
missense |
probably benign |
|
|
R1704:Fem1c
|
UTSW |
18 |
46,639,263 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1834:Fem1c
|
UTSW |
18 |
46,638,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Fem1c
|
UTSW |
18 |
46,639,228 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4609:Fem1c
|
UTSW |
18 |
46,639,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Fem1c
|
UTSW |
18 |
46,639,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Fem1c
|
UTSW |
18 |
46,638,942 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7501:Fem1c
|
UTSW |
18 |
46,638,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Fem1c
|
UTSW |
18 |
46,657,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Fem1c
|
UTSW |
18 |
46,657,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Fem1c
|
UTSW |
18 |
46,638,668 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9597:Fem1c
|
UTSW |
18 |
46,638,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Fem1c
|
UTSW |
18 |
46,657,674 (GRCm39) |
missense |
|
|
|
R9716:Fem1c
|
UTSW |
18 |
46,657,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation