Incidental Mutation 'IGL03095:Fam149a'
| ID |
418548 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
45789754-45835328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45794265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 632
(E632D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
[ENSMUST00000155230]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093526
AA Change: E713D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: E713D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
305 |
370 |
4.3e-30 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135912
AA Change: E669D
|
| SMART Domains |
Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: E669D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
259 |
324 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155230
AA Change: E632D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: E632D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
224 |
291 |
5.8e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
A |
G |
3: 73,609,216 (GRCm39) |
L70P |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,602,752 (GRCm39) |
|
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,284,274 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,460,371 (GRCm39) |
N194D |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,738,321 (GRCm39) |
D96E |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,552,671 (GRCm39) |
G122* |
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,865,245 (GRCm39) |
I1411V |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,876,940 (GRCm39) |
V477G |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,358 (GRCm39) |
V351A |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,298,265 (GRCm39) |
I319L |
probably benign |
Het |
| Gne |
C |
A |
4: 44,055,211 (GRCm39) |
D255Y |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,705 (GRCm39) |
H169R |
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,409,522 (GRCm39) |
E92G |
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,869,732 (GRCm39) |
S223P |
probably damaging |
Het |
| Kcnmb2 |
T |
A |
3: 32,252,276 (GRCm39) |
*37R |
probably null |
Het |
| Lin54 |
A |
T |
5: 100,602,337 (GRCm39) |
V400E |
probably damaging |
Het |
| Ltbp1 |
C |
A |
17: 75,589,413 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Lyg1 |
A |
G |
1: 37,989,849 (GRCm39) |
|
probably benign |
Het |
| Nampt |
T |
A |
12: 32,892,685 (GRCm39) |
V324D |
possibly damaging |
Het |
| Nat8b-ps |
T |
G |
6: 85,909,950 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,324,591 (GRCm39) |
E179G |
possibly damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,536 (GRCm39) |
|
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,664 (GRCm39) |
I204F |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,775 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,483,435 (GRCm39) |
N1582S |
probably damaging |
Het |
| Pros1 |
C |
T |
16: 62,728,132 (GRCm39) |
Q279* |
probably null |
Het |
| Psmb5 |
A |
G |
14: 54,854,014 (GRCm39) |
S155P |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,003,341 (GRCm39) |
D393E |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,785,410 (GRCm39) |
T156A |
probably benign |
Het |
| Slc44a1 |
T |
A |
4: 53,536,374 (GRCm39) |
Y183* |
probably null |
Het |
| Sytl2 |
C |
T |
7: 90,041,642 (GRCm39) |
P580L |
probably damaging |
Het |
| Tktl2 |
G |
T |
8: 66,964,936 (GRCm39) |
V165F |
probably damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,629 (GRCm39) |
E480G |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,972 (GRCm39) |
S104T |
possibly damaging |
Het |
| Vps51 |
C |
T |
19: 6,120,078 (GRCm39) |
R490H |
probably damaging |
Het |
| Wdr43 |
G |
A |
17: 71,948,282 (GRCm39) |
V391I |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,551,635 (GRCm39) |
Y121* |
probably null |
Het |
|
| Other mutations in Fam149a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Fam149a
|
APN |
8 |
45,792,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Fam149a
|
APN |
8 |
45,804,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01089:Fam149a
|
APN |
8 |
45,801,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01578:Fam149a
|
APN |
8 |
45,803,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Fam149a
|
APN |
8 |
45,801,580 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
guangxi
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Fam149a
|
UTSW |
8 |
45,804,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0111:Fam149a
|
UTSW |
8 |
45,794,183 (GRCm39) |
splice site |
probably benign |
|
|
R0113:Fam149a
|
UTSW |
8 |
45,794,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Fam149a
|
UTSW |
8 |
45,808,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Fam149a
|
UTSW |
8 |
45,798,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Fam149a
|
UTSW |
8 |
45,808,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Fam149a
|
UTSW |
8 |
45,792,399 (GRCm39) |
nonsense |
probably null |
|
|
R1981:Fam149a
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Fam149a
|
UTSW |
8 |
45,806,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Fam149a
|
UTSW |
8 |
45,794,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3807:Fam149a
|
UTSW |
8 |
45,834,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4176:Fam149a
|
UTSW |
8 |
45,794,321 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4913:Fam149a
|
UTSW |
8 |
45,806,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5172:Fam149a
|
UTSW |
8 |
45,797,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:Fam149a
|
UTSW |
8 |
45,801,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6060:Fam149a
|
UTSW |
8 |
45,811,799 (GRCm39) |
intron |
probably benign |
|
|
R6426:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
probably benign |
|
|
R6590:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6596:Fam149a
|
UTSW |
8 |
45,834,667 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6690:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Fam149a
|
UTSW |
8 |
45,834,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Fam149a
|
UTSW |
8 |
45,834,478 (GRCm39) |
missense |
probably benign |
|
|
R6916:Fam149a
|
UTSW |
8 |
45,803,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Fam149a
|
UTSW |
8 |
45,803,582 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7219:Fam149a
|
UTSW |
8 |
45,803,600 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7352:Fam149a
|
UTSW |
8 |
45,794,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7454:Fam149a
|
UTSW |
8 |
45,801,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7591:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7788:Fam149a
|
UTSW |
8 |
45,834,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Fam149a
|
UTSW |
8 |
45,811,678 (GRCm39) |
missense |
|
|
|
R7915:Fam149a
|
UTSW |
8 |
45,794,280 (GRCm39) |
missense |
probably benign |
|
|
R8036:Fam149a
|
UTSW |
8 |
45,802,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Fam149a
|
UTSW |
8 |
45,834,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8239:Fam149a
|
UTSW |
8 |
45,803,490 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8246:Fam149a
|
UTSW |
8 |
45,834,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Fam149a
|
UTSW |
8 |
45,801,991 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8856:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
|
|
|
R8986:Fam149a
|
UTSW |
8 |
45,811,837 (GRCm39) |
missense |
|
|
|
R9448:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9704:Fam149a
|
UTSW |
8 |
45,795,502 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9794:Fam149a
|
UTSW |
8 |
45,834,449 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Fam149a
|
UTSW |
8 |
45,795,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation