Incidental Mutation 'IGL01128:Fam117b'
| ID |
50317 |
| 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 # |
IGL01128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59952165-60024505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60008177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 337
(F337Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036540]
|
| AlphaFold |
Q3U3E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036540
AA Change: F337Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041671
Gene: ENSMUSG00000041040
AA Change: F337Y
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,950,332 (GRCm39) |
T128A |
probably benign |
Het |
| Bves |
T |
A |
10: 45,229,944 (GRCm39) |
F249L |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,558 (GRCm39) |
I214V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,631,843 (GRCm39) |
Q503K |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,514,207 (GRCm39) |
|
probably benign |
Het |
| Fam178b |
A |
T |
1: 36,683,435 (GRCm39) |
V95E |
probably damaging |
Het |
| Gak |
T |
A |
5: 108,740,236 (GRCm39) |
M560L |
probably damaging |
Het |
| Gna11 |
C |
A |
10: 81,366,718 (GRCm39) |
A331S |
probably damaging |
Het |
| Gtf3c3 |
A |
C |
1: 54,468,035 (GRCm39) |
F201V |
possibly damaging |
Het |
| Kat6b |
G |
A |
14: 21,710,928 (GRCm39) |
R734H |
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,886,380 (GRCm39) |
D191G |
probably damaging |
Het |
| Mttp |
T |
A |
3: 137,839,758 (GRCm39) |
|
probably null |
Het |
| Nlgn3 |
A |
T |
X: 100,363,698 (GRCm39) |
T790S |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,406 (GRCm39) |
D179G |
probably damaging |
Het |
| Or5b123 |
G |
A |
19: 13,597,110 (GRCm39) |
E195K |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,550,068 (GRCm39) |
Y238N |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,615,586 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,096 (GRCm39) |
C376S |
probably damaging |
Het |
| Rexo1 |
T |
C |
10: 80,385,573 (GRCm39) |
D495G |
probably benign |
Het |
| Rims1 |
A |
T |
1: 22,573,256 (GRCm39) |
V315D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,018,424 (GRCm39) |
Q745* |
probably null |
Het |
| Satb1 |
A |
G |
17: 52,112,317 (GRCm39) |
V99A |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,282,129 (GRCm39) |
P422S |
probably damaging |
Het |
| Stkld1 |
G |
T |
2: 26,841,483 (GRCm39) |
W476L |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,334 (GRCm39) |
D205G |
probably damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,027,650 (GRCm39) |
T880A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,212,130 (GRCm39) |
E363G |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 19,980,718 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam117b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01596:Fam117b
|
APN |
1 |
59,992,130 (GRCm39) |
nonsense |
probably null |
|
|
IGL02104:Fam117b
|
APN |
1 |
59,988,278 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02129:Fam117b
|
APN |
1 |
60,020,582 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
2013-06-21 |
Incidental Mutation