Incidental Mutation 'IGL02628:Fem1c'
| ID |
301169 |
| 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 # |
IGL02628
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
46637673-46659038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46639019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 328
(R328W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036226]
|
| AlphaFold |
Q8CEF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036226
AA Change: R328W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038816
Gene: ENSMUSG00000033319
AA Change: R328W
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
A |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
T |
C |
18: 36,780,756 (GRCm39) |
V1936A |
probably benign |
Het |
| Ap3m1 |
C |
A |
14: 21,095,588 (GRCm39) |
E81* |
probably null |
Het |
| Camkk1 |
T |
C |
11: 72,919,995 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmc1 |
A |
G |
9: 117,894,376 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,794 (GRCm39) |
D184V |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,644 (GRCm39) |
D1373V |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,247,796 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,919 (GRCm39) |
R579G |
probably benign |
Het |
| Gm42641 |
G |
A |
9: 108,887,698 (GRCm39) |
Q98* |
probably null |
Het |
| Hsd17b7 |
A |
G |
1: 169,792,058 (GRCm39) |
F117L |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,585 (GRCm39) |
I467T |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,581,567 (GRCm39) |
I382F |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,097,088 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
C |
T |
10: 89,309,701 (GRCm39) |
A339T |
probably damaging |
Het |
| Opn4 |
T |
A |
14: 34,315,014 (GRCm39) |
T420S |
probably benign |
Het |
| Or5h22 |
A |
C |
16: 58,895,155 (GRCm39) |
M96R |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,916,756 (GRCm39) |
Y50C |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,026,434 (GRCm39) |
M1K |
probably null |
Het |
| T |
T |
A |
17: 8,654,190 (GRCm39) |
I125N |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,263 (GRCm39) |
S710T |
probably benign |
Het |
| Trav3-1 |
T |
A |
14: 52,818,551 (GRCm39) |
V75E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,354,143 (GRCm39) |
Y832H |
possibly damaging |
Het |
| Zng1 |
T |
A |
19: 24,935,269 (GRCm39) |
E78D |
probably damaging |
Het |
|
| Other mutations in Fem1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01594:Fem1c
|
APN |
18 |
46,639,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation