Incidental Mutation 'IGL00943:Fam114a2'
ID |
28557 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam114a2
|
Ensembl Gene |
ENSMUSG00000020523 |
Gene Name |
family with sequence similarity 114, member A2 |
Synonyms |
9030624B09Rik, 1810073G14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL00943
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
57373819-57409443 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 57405099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020830]
[ENSMUST00000020831]
[ENSMUST00000108849]
[ENSMUST00000108850]
|
AlphaFold |
Q8VE88 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020830
|
SMART Domains |
Protein: ENSMUSP00000020830 Gene: ENSMUSG00000020522
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IGc2
|
59 |
124 |
7.07e-13 |
SMART |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
low complexity region
|
284 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000020831
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020831 Gene: ENSMUSG00000020523 AA Change: M1K
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: ENSMUST00000108849
|
SMART Domains |
Protein: ENSMUSP00000104477 Gene: ENSMUSG00000020522
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IGc2
|
59 |
124 |
7.07e-13 |
SMART |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
low complexity region
|
284 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108850
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104478 Gene: ENSMUSG00000020523 AA Change: M1K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130596
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
G |
2: 31,680,824 (GRCm39) |
Y372C |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,295,869 (GRCm39) |
V382M |
possibly damaging |
Het |
Chkb |
A |
T |
15: 89,312,951 (GRCm39) |
V138E |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,806,765 (GRCm39) |
G2434* |
probably null |
Het |
Cpa3 |
A |
G |
3: 20,282,979 (GRCm39) |
V156A |
possibly damaging |
Het |
Dicer1 |
A |
C |
12: 104,663,031 (GRCm39) |
S1517A |
possibly damaging |
Het |
Dnajc14 |
T |
G |
10: 128,652,675 (GRCm39) |
S578A |
possibly damaging |
Het |
Dse |
A |
G |
10: 34,038,801 (GRCm39) |
Y201H |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,469,922 (GRCm39) |
S50R |
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,808,938 (GRCm39) |
Y220C |
probably damaging |
Het |
Grxcr1 |
T |
C |
5: 68,189,638 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
Ino80b |
A |
T |
6: 83,101,129 (GRCm39) |
L116Q |
probably damaging |
Het |
Inpp5e |
A |
G |
2: 26,290,163 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,285,658 (GRCm39) |
C628R |
probably damaging |
Het |
Maml1 |
A |
G |
11: 50,149,541 (GRCm39) |
V733A |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,424,685 (GRCm39) |
L635P |
probably damaging |
Het |
Myh15 |
A |
T |
16: 48,986,176 (GRCm39) |
I1549F |
probably damaging |
Het |
Myo1b |
T |
A |
1: 51,823,646 (GRCm39) |
I414F |
probably damaging |
Het |
Nlrc3 |
T |
A |
16: 3,782,981 (GRCm39) |
I159F |
possibly damaging |
Het |
Nvl |
A |
T |
1: 180,929,199 (GRCm39) |
D727E |
possibly damaging |
Het |
Or1l4 |
T |
C |
2: 37,092,183 (GRCm39) |
V310A |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,896,366 (GRCm39) |
I348V |
probably benign |
Het |
Pkp1 |
A |
T |
1: 135,805,922 (GRCm39) |
V592E |
probably damaging |
Het |
Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
Slc26a7 |
T |
C |
4: 14,506,477 (GRCm39) |
D624G |
probably benign |
Het |
Slc39a6 |
A |
G |
18: 24,722,802 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
T |
C |
19: 40,283,484 (GRCm39) |
|
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,261,631 (GRCm39) |
M56K |
possibly damaging |
Het |
Togaram2 |
C |
T |
17: 72,031,999 (GRCm39) |
R873C |
probably damaging |
Het |
Tubgcp6 |
G |
A |
15: 89,006,600 (GRCm39) |
R141* |
probably null |
Het |
Vill |
A |
G |
9: 118,892,380 (GRCm39) |
E337G |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,338,185 (GRCm39) |
L11S |
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 |
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 |
R3107:Fam114a2
|
UTSW |
11 |
57,390,561 (GRCm39) |
missense |
probably benign |
0.39 |
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 |
|
|
Posted On |
2013-04-17 |