Incidental Mutation 'R1329:Fem1al'
| ID |
156124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fem1al
|
| Ensembl Gene |
ENSMUSG00000078157 |
| Gene Name |
fem-1 homolog A like |
| Synonyms |
4931440F15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
29772395-29775668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29773553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 635
(N635Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058902]
[ENSMUST00000104962]
|
| AlphaFold |
Q8C0T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058902
|
| SMART Domains |
Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
WD40
|
49 |
91 |
1.79e-1 |
SMART |
|
WD40
|
94 |
136 |
1.42e-4 |
SMART |
|
WD40
|
139 |
178 |
5.31e-4 |
SMART |
|
WD40
|
184 |
224 |
8.84e1 |
SMART |
|
WD40
|
225 |
263 |
3.75e-4 |
SMART |
|
WD40
|
313 |
353 |
4.69e-5 |
SMART |
|
WD40
|
356 |
394 |
2.22e0 |
SMART |
|
WD40
|
397 |
436 |
1.72e0 |
SMART |
|
WD40
|
505 |
546 |
1.7e2 |
SMART |
|
WD40
|
552 |
592 |
4.55e-3 |
SMART |
|
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
653 |
715 |
1.9e-22 |
PFAM |
|
WD40
|
716 |
757 |
9.24e-1 |
SMART |
|
WD40
|
760 |
802 |
6.53e-4 |
SMART |
|
WD40
|
805 |
844 |
2.98e-1 |
SMART |
|
WD40
|
856 |
891 |
8.52e1 |
SMART |
|
WD40
|
892 |
929 |
2.09e-2 |
SMART |
|
WD40
|
986 |
1026 |
1.18e-1 |
SMART |
|
WD40
|
1032 |
1068 |
3.44e0 |
SMART |
|
WD40
|
1071 |
1111 |
2.58e-1 |
SMART |
|
WD40
|
1180 |
1221 |
9.24e-1 |
SMART |
|
WD40
|
1227 |
1267 |
3.85e-1 |
SMART |
|
low complexity region
|
1280 |
1291 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
1329 |
1402 |
5e-15 |
PFAM |
|
WD40
|
1404 |
1447 |
2.66e0 |
SMART |
|
WD40
|
1450 |
1492 |
1.85e0 |
SMART |
|
WD40
|
1495 |
1534 |
2.97e0 |
SMART |
|
WD40
|
1543 |
1582 |
7.1e1 |
SMART |
|
WD40
|
1584 |
1629 |
9.51e1 |
SMART |
|
WD40
|
1675 |
1715 |
3.05e-4 |
SMART |
|
WD40
|
1718 |
1758 |
8.84e1 |
SMART |
|
WD40
|
1759 |
1798 |
7.16e-1 |
SMART |
|
WD40
|
1869 |
1910 |
1.53e1 |
SMART |
|
WD40
|
1916 |
1956 |
4.62e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104962
AA Change: N635Y
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: N635Y
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
19 |
50 |
1.53e3 |
SMART |
|
ANK
|
57 |
87 |
1.7e-3 |
SMART |
|
ANK
|
99 |
128 |
3.6e-2 |
SMART |
|
ANK
|
132 |
162 |
3.31e-1 |
SMART |
|
ANK
|
166 |
195 |
8.19e-6 |
SMART |
|
ANK
|
199 |
228 |
7.83e-3 |
SMART |
|
ANK
|
231 |
260 |
1.8e-2 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
ANK
|
536 |
578 |
8.39e-3 |
SMART |
|
ANK
|
582 |
611 |
3.91e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109452
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
T |
4: 152,314,241 (GRCm39) |
Q188* |
probably null |
Het |
| Ano5 |
T |
C |
7: 51,196,533 (GRCm39) |
Y141H |
probably benign |
Het |
| Atg101 |
G |
A |
15: 101,188,171 (GRCm39) |
G92D |
probably null |
Het |
| Brwd1 |
A |
G |
16: 95,804,434 (GRCm39) |
I1912T |
probably benign |
Het |
| Cad |
G |
T |
5: 31,216,926 (GRCm39) |
G263W |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,227 (GRCm39) |
E715G |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,779 (GRCm39) |
|
probably benign |
Het |
| Dbp |
C |
T |
7: 45,357,752 (GRCm39) |
P70S |
probably damaging |
Het |
| Gpr61 |
T |
A |
3: 108,057,830 (GRCm39) |
H277L |
probably benign |
Het |
| Gsdma3 |
G |
T |
11: 98,523,218 (GRCm39) |
V203F |
probably damaging |
Het |
| Ifih1 |
G |
C |
2: 62,447,831 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,246,020 (GRCm39) |
C404S |
possibly damaging |
Het |
| Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
G |
8: 108,095,659 (GRCm39) |
M1300R |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,325,943 (GRCm39) |
P1129S |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,102,838 (GRCm39) |
N208K |
possibly damaging |
Het |
| Or8g20 |
A |
G |
9: 39,395,740 (GRCm39) |
S270P |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,384,653 (GRCm39) |
D488G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,569,833 (GRCm39) |
Y202F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Usp4 |
T |
A |
9: 108,249,765 (GRCm39) |
V431E |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,466,717 (GRCm39) |
I636V |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,162 (GRCm39) |
N358S |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,534,615 (GRCm39) |
N511K |
probably benign |
Het |
| Wdr5 |
T |
A |
2: 27,421,683 (GRCm39) |
F222I |
probably damaging |
Het |
|
| Other mutations in Fem1al |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Fem1al
|
APN |
11 |
29,774,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01560:Fem1al
|
APN |
11 |
29,774,643 (GRCm39) |
nonsense |
probably null |
|
|
IGL02160:Fem1al
|
APN |
11 |
29,773,593 (GRCm39) |
nonsense |
probably null |
|
|
IGL03058:Fem1al
|
APN |
11 |
29,774,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03107:Fem1al
|
APN |
11 |
29,774,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Fem1al
|
UTSW |
11 |
29,774,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Fem1al
|
UTSW |
11 |
29,774,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Fem1al
|
UTSW |
11 |
29,773,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Fem1al
|
UTSW |
11 |
29,773,994 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1745:Fem1al
|
UTSW |
11 |
29,774,723 (GRCm39) |
missense |
probably benign |
|
|
R1917:Fem1al
|
UTSW |
11 |
29,774,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1918:Fem1al
|
UTSW |
11 |
29,774,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2338:Fem1al
|
UTSW |
11 |
29,773,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4359:Fem1al
|
UTSW |
11 |
29,774,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4757:Fem1al
|
UTSW |
11 |
29,775,454 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4859:Fem1al
|
UTSW |
11 |
29,775,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Fem1al
|
UTSW |
11 |
29,774,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7084:Fem1al
|
UTSW |
11 |
29,775,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7447:Fem1al
|
UTSW |
11 |
29,774,122 (GRCm39) |
missense |
probably benign |
|
|
R8098:Fem1al
|
UTSW |
11 |
29,774,450 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8825:Fem1al
|
UTSW |
11 |
29,773,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9389:Fem1al
|
UTSW |
11 |
29,775,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Fem1al
|
UTSW |
11 |
29,774,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9784:Fem1al
|
UTSW |
11 |
29,775,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fem1al
|
UTSW |
11 |
29,775,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAAGGAGACAGCTTTGCTCAC -3'
(R):5'- ATCGCTGCCCAGAACAATTGCC -3'
Sequencing Primer
(F):5'- TGCAGGACTCTAGGACAGTG -3'
(R):5'- GAACAATTGCCCGGCCATC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation