Incidental Mutation 'IGL02264:Fam185a'
| ID |
286848 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam185a
|
| Ensembl Gene |
ENSMUSG00000047221 |
| Gene Name |
family with sequence similarity 185, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21629956-21687122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21685392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 363
(V363I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000056045]
|
| AlphaFold |
Q7TPD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051358
|
| SMART Domains |
Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
|
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
|
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
|
LRR
|
354 |
378 |
3.67e2 |
SMART |
|
LRR
|
379 |
404 |
2.75e-3 |
SMART |
|
LRR
|
407 |
425 |
4.51e2 |
SMART |
|
LRR
|
426 |
451 |
2.63e0 |
SMART |
|
LRR
|
476 |
501 |
4.15e1 |
SMART |
|
LRR
|
502 |
526 |
1.82e1 |
SMART |
|
LRR
|
529 |
554 |
1.76e-1 |
SMART |
|
LRR_CC
|
555 |
580 |
4.61e-5 |
SMART |
|
LRR
|
604 |
629 |
8.81e-2 |
SMART |
|
LRR
|
630 |
655 |
2.37e1 |
SMART |
|
LRR
|
656 |
681 |
3.21e-4 |
SMART |
|
LRR
|
682 |
707 |
6.57e-1 |
SMART |
|
LRR
|
708 |
733 |
9.47e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056045
AA Change: V363I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
AA Change: V363I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146056
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abhd17b |
T |
C |
19: 21,655,796 (GRCm39) |
L26P |
probably damaging |
Het |
| Abtb1 |
A |
G |
6: 88,813,517 (GRCm39) |
V407A |
probably benign |
Het |
| Adamts17 |
C |
A |
7: 66,697,207 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
G |
T |
2: 20,864,850 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,820,656 (GRCm39) |
D1290G |
probably damaging |
Het |
| Btbd6 |
A |
G |
12: 112,940,589 (GRCm39) |
T49A |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,259,699 (GRCm39) |
V702I |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
| Dclre1a |
T |
A |
19: 56,532,725 (GRCm39) |
N623I |
possibly damaging |
Het |
| Dnah9 |
A |
T |
11: 65,971,314 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,102,775 (GRCm39) |
F978S |
probably damaging |
Het |
| Iglc2 |
G |
T |
16: 19,017,397 (GRCm39) |
S69R |
probably damaging |
Het |
| Ints5 |
T |
C |
19: 8,873,076 (GRCm39) |
V345A |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,687,569 (GRCm39) |
R2825G |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,137,794 (GRCm39) |
E2870G |
probably damaging |
Het |
| Or4c125 |
G |
T |
2: 89,170,028 (GRCm39) |
T206K |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,207 (GRCm39) |
T241A |
probably benign |
Het |
| Or5aq7 |
C |
T |
2: 86,937,785 (GRCm39) |
|
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcsk1 |
C |
A |
13: 75,254,078 (GRCm39) |
T210K |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,961,178 (GRCm39) |
A71V |
possibly damaging |
Het |
| Slco5a1 |
A |
G |
1: 12,942,219 (GRCm39) |
V809A |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,144 (GRCm39) |
T1173A |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,040,584 (GRCm39) |
I367T |
probably damaging |
Het |
| Tmem169 |
T |
A |
1: 72,340,114 (GRCm39) |
Y181* |
probably null |
Het |
| Trp73 |
G |
T |
4: 154,148,885 (GRCm39) |
F289L |
probably null |
Het |
| Ttll9 |
A |
G |
2: 152,842,055 (GRCm39) |
Y303C |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,182,939 (GRCm39) |
E3577* |
probably null |
Het |
| Zbtb3 |
T |
G |
19: 8,780,729 (GRCm39) |
V114G |
probably damaging |
Het |
|
| Other mutations in Fam185a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Fam185a
|
APN |
5 |
21,685,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Fam185a
|
APN |
5 |
21,664,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Fam185a
|
APN |
5 |
21,630,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02553:Fam185a
|
APN |
5 |
21,634,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL02553:Fam185a
|
APN |
5 |
21,660,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Fam185a
|
APN |
5 |
21,660,836 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
famine
|
UTSW |
5 |
21,630,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Fam185a
|
UTSW |
5 |
21,664,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Fam185a
|
UTSW |
5 |
21,685,328 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1883:Fam185a
|
UTSW |
5 |
21,630,242 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3775:Fam185a
|
UTSW |
5 |
21,660,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Fam185a
|
UTSW |
5 |
21,630,122 (GRCm39) |
unclassified |
probably benign |
|
|
R4192:Fam185a
|
UTSW |
5 |
21,630,122 (GRCm39) |
unclassified |
probably benign |
|
|
R4194:Fam185a
|
UTSW |
5 |
21,630,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4704:Fam185a
|
UTSW |
5 |
21,685,471 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4724:Fam185a
|
UTSW |
5 |
21,660,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Fam185a
|
UTSW |
5 |
21,685,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6225:Fam185a
|
UTSW |
5 |
21,630,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6438:Fam185a
|
UTSW |
5 |
21,663,970 (GRCm39) |
splice site |
probably null |
|
|
R6475:Fam185a
|
UTSW |
5 |
21,630,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7512:Fam185a
|
UTSW |
5 |
21,652,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8400:Fam185a
|
UTSW |
5 |
21,643,814 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8690:Fam185a
|
UTSW |
5 |
21,638,766 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9157:Fam185a
|
UTSW |
5 |
21,660,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation