Incidental Mutation 'R2763:Fem1a'
ID |
254175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fem1a
|
Ensembl Gene |
ENSMUSG00000043683 |
Gene Name |
fem 1 homolog a |
Synonyms |
Eprap |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R2763 (G1)
|
Quality Score |
209 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
56563810-56570610 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56564537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 210
(E210G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060253]
|
AlphaFold |
Q9Z2G1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060253
AA Change: E210G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000057996 Gene: ENSMUSG00000043683 AA Change: E210G
Domain | Start | End | E-Value | Type |
ANK
|
2 |
33 |
2.43e3 |
SMART |
ANK
|
40 |
70 |
1.7e-3 |
SMART |
ANK
|
82 |
111 |
1.57e-2 |
SMART |
ANK
|
115 |
145 |
1.15e0 |
SMART |
ANK
|
149 |
178 |
8.19e-6 |
SMART |
ANK
|
182 |
211 |
1.93e-2 |
SMART |
ANK
|
214 |
243 |
1.65e-1 |
SMART |
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
low complexity region
|
479 |
490 |
N/A |
INTRINSIC |
ANK
|
519 |
561 |
7.83e-3 |
SMART |
ANK
|
565 |
594 |
9.78e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout results in an increased susceptibility to DSS-induced colitis and colitis-associated tumorigenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
A |
15: 83,111,871 (GRCm39) |
D304V |
probably benign |
Het |
Ablim3 |
T |
A |
18: 61,946,615 (GRCm39) |
K516* |
probably null |
Het |
Akap11 |
A |
G |
14: 78,756,332 (GRCm39) |
F22S |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,326,908 (GRCm39) |
|
probably null |
Het |
Apol9a |
T |
C |
15: 77,288,617 (GRCm39) |
E250G |
probably benign |
Het |
Calcrl |
T |
C |
2: 84,200,847 (GRCm39) |
R66G |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,573,356 (GRCm39) |
Q187* |
probably null |
Het |
Cd177 |
G |
A |
7: 24,457,462 (GRCm39) |
A193V |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,199,508 (GRCm39) |
V872A |
probably benign |
Het |
Cebpz |
A |
G |
17: 79,243,358 (GRCm39) |
S99P |
probably benign |
Het |
Cmtr1 |
G |
A |
17: 29,899,602 (GRCm39) |
E632K |
possibly damaging |
Het |
Dysf |
A |
T |
6: 84,083,914 (GRCm39) |
H782L |
probably benign |
Het |
Golga3 |
T |
C |
5: 110,352,761 (GRCm39) |
I884T |
possibly damaging |
Het |
Gstm6 |
G |
A |
3: 107,848,358 (GRCm39) |
T173M |
possibly damaging |
Het |
Pcdhgb8 |
T |
A |
18: 37,895,315 (GRCm39) |
N128K |
probably damaging |
Het |
Phkg2 |
A |
G |
7: 127,179,005 (GRCm39) |
E139G |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,070,306 (GRCm39) |
V1157E |
possibly damaging |
Het |
Septin9 |
C |
T |
11: 117,217,327 (GRCm39) |
T6I |
probably benign |
Het |
Shkbp1 |
T |
A |
7: 27,046,454 (GRCm39) |
M437L |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,084,061 (GRCm39) |
C1904R |
possibly damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,479,210 (GRCm39) |
C242* |
probably null |
Het |
|
Other mutations in Fem1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Fem1a
|
APN |
17 |
56,565,355 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02947:Fem1a
|
APN |
17 |
56,565,640 (GRCm39) |
missense |
probably benign |
0.03 |
R1123:Fem1a
|
UTSW |
17 |
56,564,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R1450:Fem1a
|
UTSW |
17 |
56,564,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Fem1a
|
UTSW |
17 |
56,564,686 (GRCm39) |
missense |
probably benign |
|
R6273:Fem1a
|
UTSW |
17 |
56,564,083 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7384:Fem1a
|
UTSW |
17 |
56,564,537 (GRCm39) |
missense |
probably benign |
0.01 |
R7606:Fem1a
|
UTSW |
17 |
56,563,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R7783:Fem1a
|
UTSW |
17 |
56,564,522 (GRCm39) |
missense |
probably benign |
0.00 |
R7804:Fem1a
|
UTSW |
17 |
56,565,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R8191:Fem1a
|
UTSW |
17 |
56,565,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTATGATCTCCTGCTACAAG -3'
(R):5'- AGATCCCTTTTCTTATCCACGTAGG -3'
Sequencing Primer
(F):5'- GATCTCCTGCTACAAGGGCCAC -3'
(R):5'- AGCAGCTCTCATACGGTTCTG -3'
|
Posted On |
2014-12-04 |