Incidental Mutation 'R3107:Fam114a2'
ID |
263633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam114a2
|
Ensembl Gene |
ENSMUSG00000020523 |
Gene Name |
family with sequence similarity 114, member A2 |
Synonyms |
9030624B09Rik, 1810073G14Rik |
MMRRC Submission |
040581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R3107 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
57373819-57409443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57390561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 317
(K317N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020831]
[ENSMUST00000108850]
|
AlphaFold |
Q8VE88 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020831
AA Change: K317N
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020831 Gene: ENSMUSG00000020523 AA Change: K317N
Domain | Start | End | E-Value | Type |
Pfam:DUF719
|
68 |
236 |
5e-72 |
PFAM |
low complexity region
|
263 |
275 |
N/A |
INTRINSIC |
low complexity region
|
338 |
355 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108850
AA Change: K324N
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104478 Gene: ENSMUSG00000020523 AA Change: K324N
Domain | Start | End | E-Value | Type |
Pfam:DUF719
|
77 |
243 |
4.5e-71 |
PFAM |
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly damaging |
Het |
|
Other mutations in Fam114a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00655:Fam114a2
|
APN |
11 |
57,378,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00943:Fam114a2
|
APN |
11 |
57,405,099 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL01809:Fam114a2
|
APN |
11 |
57,404,461 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01972:Fam114a2
|
APN |
11 |
57,400,220 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02541:Fam114a2
|
APN |
11 |
57,390,627 (GRCm39) |
missense |
probably benign |
0.41 |
R0010:Fam114a2
|
UTSW |
11 |
57,404,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Fam114a2
|
UTSW |
11 |
57,404,066 (GRCm39) |
critical splice donor site |
probably null |
|
R1645:Fam114a2
|
UTSW |
11 |
57,390,621 (GRCm39) |
missense |
probably benign |
0.00 |
R2426:Fam114a2
|
UTSW |
11 |
57,383,906 (GRCm39) |
missense |
probably benign |
0.00 |
R3021:Fam114a2
|
UTSW |
11 |
57,390,625 (GRCm39) |
missense |
probably benign |
0.01 |
R6149:Fam114a2
|
UTSW |
11 |
57,378,415 (GRCm39) |
missense |
probably benign |
0.05 |
R6248:Fam114a2
|
UTSW |
11 |
57,383,942 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6306:Fam114a2
|
UTSW |
11 |
57,404,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R6933:Fam114a2
|
UTSW |
11 |
57,374,897 (GRCm39) |
missense |
probably benign |
0.04 |
R7485:Fam114a2
|
UTSW |
11 |
57,404,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R7486:Fam114a2
|
UTSW |
11 |
57,404,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R7487:Fam114a2
|
UTSW |
11 |
57,404,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R7531:Fam114a2
|
UTSW |
11 |
57,404,542 (GRCm39) |
missense |
probably benign |
|
R7601:Fam114a2
|
UTSW |
11 |
57,405,042 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7662:Fam114a2
|
UTSW |
11 |
57,398,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R8033:Fam114a2
|
UTSW |
11 |
57,398,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R9335:Fam114a2
|
UTSW |
11 |
57,397,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF024:Fam114a2
|
UTSW |
11 |
57,383,859 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Fam114a2
|
UTSW |
11 |
57,404,084 (GRCm39) |
missense |
probably benign |
0.05 |
Z1186:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1186:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1186:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1187:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
Z1187:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1187:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1187:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1187:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1188:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1188:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1188:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1189:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1189:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1190:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1190:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1191:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1191:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
Z1192:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
Z1192:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCATTATATGTATGTATTGCCAGGAGG -3'
(R):5'- AGCACACCATTTTGTTTGTTTG -3'
Sequencing Primer
(F):5'- TATGTATTGCCAGGAGGTTAAGAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
Posted On |
2015-02-05 |