Incidental Mutation 'R2426:Fam114a2'
| ID |
250238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam114a2
|
| Ensembl Gene |
ENSMUSG00000020523 |
| Gene Name |
family with sequence similarity 114, member A2 |
| Synonyms |
1810073G14Rik, 9030624B09Rik |
| MMRRC Submission |
040388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
57482993-57518617 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57493080 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 343
(P343L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020831]
[ENSMUST00000108850]
|
| AlphaFold |
Q8VE88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020831
AA Change: P336L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: P336L
| 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: P343L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: P343L
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
T |
7: 120,283,223 (GRCm38) |
V1203L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,156,788 (GRCm38) |
V131I |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,009,449 (GRCm38) |
M187K |
possibly damaging |
Het |
| Agbl1 |
T |
C |
7: 76,421,902 (GRCm38) |
V324A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 9,002,851 (GRCm38) |
I500F |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,598,284 (GRCm38) |
D851G |
probably damaging |
Het |
| Amot |
T |
C |
X: 145,476,291 (GRCm38) |
K460E |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 27,384,181 (GRCm38) |
E161* |
probably null |
Het |
| Atg9b |
A |
T |
5: 24,386,994 (GRCm38) |
I669N |
probably damaging |
Het |
| Ccdc83 |
A |
G |
7: 90,228,431 (GRCm38) |
Y268H |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,774,635 (GRCm38) |
S302P |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,571,016 (GRCm38) |
M303K |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,317,776 (GRCm38) |
Y231F |
probably benign |
Het |
| Defa39 |
T |
G |
8: 21,702,637 (GRCm38) |
K114N |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,914,541 (GRCm38) |
L1411Q |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,336,804 (GRCm38) |
I629N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,192,812 (GRCm38) |
H2837L |
probably benign |
Het |
| Fbrs |
A |
G |
7: 127,487,339 (GRCm38) |
|
probably null |
Het |
| Fbxl13 |
A |
C |
5: 21,522,137 (GRCm38) |
D620E |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,529,862 (GRCm38) |
S164T |
probably damaging |
Het |
| Gdi2 |
T |
G |
13: 3,562,034 (GRCm38) |
S330A |
probably benign |
Het |
| Gm5878 |
A |
T |
6: 85,118,631 (GRCm38) |
M70K |
probably benign |
Het |
| H2-Q6 |
G |
T |
17: 35,424,937 (GRCm38) |
A21S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 106,847,653 (GRCm38) |
|
probably null |
Het |
| Hnmt |
C |
T |
2: 24,019,155 (GRCm38) |
C82Y |
probably benign |
Het |
| Il1rl1 |
C |
A |
1: 40,446,619 (GRCm38) |
A310D |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,771,814 (GRCm38) |
|
probably null |
Het |
| Kcne4 |
C |
A |
1: 78,817,971 (GRCm38) |
A112E |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 100,086,366 (GRCm38) |
K236R |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,706,498 (GRCm38) |
L380P |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,988,356 (GRCm38) |
D218E |
possibly damaging |
Het |
| Mon1b |
G |
A |
8: 113,639,120 (GRCm38) |
G360D |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,130,057 (GRCm38) |
S383P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,169,053 (GRCm38) |
|
probably null |
Het |
| Nlgn2 |
A |
T |
11: 69,827,086 (GRCm38) |
I431N |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,563,485 (GRCm38) |
L134P |
probably damaging |
Het |
| Olfr329-ps |
A |
T |
11: 58,543,094 (GRCm38) |
Y127* |
probably null |
Het |
| Opcml |
G |
A |
9: 28,903,367 (GRCm38) |
|
probably null |
Het |
| Or6c207 |
T |
C |
10: 129,269,266 (GRCm38) |
Q19R |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,231,064 (GRCm38) |
S190P |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,670,480 (GRCm38) |
|
probably null |
Het |
| Pgr |
G |
A |
9: 8,900,717 (GRCm38) |
V84M |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,299,082 (GRCm38) |
V296D |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,715,649 (GRCm38) |
T555M |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,963,976 (GRCm38) |
D426A |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 143,111,750 (GRCm38) |
C1679* |
probably null |
Het |
| Psme2b |
A |
T |
11: 48,946,063 (GRCm38) |
V19D |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 57,027,428 (GRCm38) |
N159Y |
possibly damaging |
Het |
| Sanbr |
T |
A |
11: 23,576,801 (GRCm38) |
R190W |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,818,803 (GRCm38) |
T64S |
unknown |
Het |
| Serping1 |
T |
G |
2: 84,770,219 (GRCm38) |
S260R |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,208,230 (GRCm38) |
F436S |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,906,179 (GRCm38) |
I138N |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,722,925 (GRCm38) |
Y643F |
probably damaging |
Het |
| Spink1 |
G |
T |
18: 43,735,222 (GRCm38) |
S23* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,845,116 (GRCm38) |
|
probably null |
Het |
| Tnfaip8l1 |
G |
A |
17: 56,172,030 (GRCm38) |
V107I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,646,681 (GRCm38) |
S907G |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 29,067,185 (GRCm38) |
M489K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Usp54 |
G |
A |
14: 20,564,940 (GRCm38) |
A811V |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,514,471 (GRCm38) |
N2352S |
probably benign |
Het |
| Zan |
T |
C |
5: 137,388,992 (GRCm38) |
Y4933C |
unknown |
Het |
| Zbtb8a |
A |
G |
4: 129,360,219 (GRCm38) |
S161P |
probably benign |
Het |
| Zkscan5 |
A |
T |
5: 145,220,940 (GRCm38) |
I751L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 11,165,095 (GRCm38) |
F85S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,915,265 (GRCm38) |
M2647V |
probably benign |
Het |
|
| Other mutations in Fam114a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00655:Fam114a2
|
APN |
11 |
57,487,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00943:Fam114a2
|
APN |
11 |
57,514,273 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
IGL01809:Fam114a2
|
APN |
11 |
57,513,635 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01972:Fam114a2
|
APN |
11 |
57,509,394 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02541:Fam114a2
|
APN |
11 |
57,499,801 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0010:Fam114a2
|
UTSW |
11 |
57,514,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1594:Fam114a2
|
UTSW |
11 |
57,513,240 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1645:Fam114a2
|
UTSW |
11 |
57,499,795 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3021:Fam114a2
|
UTSW |
11 |
57,499,799 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3107:Fam114a2
|
UTSW |
11 |
57,499,735 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6149:Fam114a2
|
UTSW |
11 |
57,487,589 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6248:Fam114a2
|
UTSW |
11 |
57,493,116 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6306:Fam114a2
|
UTSW |
11 |
57,514,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6933:Fam114a2
|
UTSW |
11 |
57,484,071 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7485:Fam114a2
|
UTSW |
11 |
57,513,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7486:Fam114a2
|
UTSW |
11 |
57,513,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7487:Fam114a2
|
UTSW |
11 |
57,513,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7531:Fam114a2
|
UTSW |
11 |
57,513,716 (GRCm38) |
missense |
probably benign |
|
|
R7601:Fam114a2
|
UTSW |
11 |
57,514,216 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7662:Fam114a2
|
UTSW |
11 |
57,507,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8033:Fam114a2
|
UTSW |
11 |
57,507,507 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9335:Fam114a2
|
UTSW |
11 |
57,506,922 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
RF024:Fam114a2
|
UTSW |
11 |
57,493,033 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Fam114a2
|
UTSW |
11 |
57,513,258 (GRCm38) |
missense |
probably benign |
0.05 |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
Z1186:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1186:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1187:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1188:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1188:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
Z1189:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1189:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1189:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
Z1190:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1190:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1190:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
Z1192:Fam114a2
|
UTSW |
11 |
57,499,755 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,490,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,484,032 (GRCm38) |
missense |
probably benign |
|
|
Z1192:Fam114a2
|
UTSW |
11 |
57,514,234 (GRCm38) |
missense |
probably benign |
|
|
Z1192:Fam114a2
|
UTSW |
11 |
57,499,797 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACCTACGTGTGAGTGTAG -3'
(R):5'- AGCCATTGGACAGGATTCAGTG -3'
Sequencing Primer
(F):5'- CAGTGATATCTGGGGAATCCTCC -3'
(R):5'- CCATTGGACAGGATTCAGTGTAAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation