Incidental Mutation 'IGL02129:Fam117b'
| ID |
280964 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam117b
|
| Ensembl Gene |
ENSMUSG00000041040 |
| Gene Name |
family with sequence similarity 117, member B |
| Synonyms |
2810425F24Rik, Als2cr13, 6330416D14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL02129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59952165-60024505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60020582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 484
(H484R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036540]
|
| AlphaFold |
Q3U3E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036540
AA Change: H484R
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000041671
Gene: ENSMUSG00000041040
AA Change: H484R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
144 |
N/A |
INTRINSIC |
|
Pfam:FAM117
|
211 |
524 |
2.9e-125 |
PFAM |
|
low complexity region
|
531 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189790
|
| 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 |
|---|
| Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
| Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
| Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
| Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
| Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
| Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
| Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
| Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
| Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
Het |
|
| Other mutations in Fam117b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01128:Fam117b
|
APN |
1 |
60,008,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01596:Fam117b
|
APN |
1 |
59,992,130 (GRCm39) |
nonsense |
probably null |
|
|
IGL02104:Fam117b
|
APN |
1 |
59,988,278 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03387:Fam117b
|
APN |
1 |
59,992,119 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0690:Fam117b
|
UTSW |
1 |
59,997,512 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1074:Fam117b
|
UTSW |
1 |
59,997,485 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1435:Fam117b
|
UTSW |
1 |
60,008,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2215:Fam117b
|
UTSW |
1 |
60,008,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Fam117b
|
UTSW |
1 |
59,952,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Fam117b
|
UTSW |
1 |
59,952,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Fam117b
|
UTSW |
1 |
60,009,631 (GRCm39) |
splice site |
probably null |
|
|
R6228:Fam117b
|
UTSW |
1 |
60,008,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:Fam117b
|
UTSW |
1 |
60,020,731 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6921:Fam117b
|
UTSW |
1 |
59,992,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7633:Fam117b
|
UTSW |
1 |
60,020,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Fam117b
|
UTSW |
1 |
59,952,837 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7867:Fam117b
|
UTSW |
1 |
60,014,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8305:Fam117b
|
UTSW |
1 |
59,952,782 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9116:Fam117b
|
UTSW |
1 |
60,018,456 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Fam117b
|
UTSW |
1 |
60,020,740 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0004:Fam117b
|
UTSW |
1 |
60,014,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation