Incidental Mutation 'IGL03258:Fam78b'
| ID |
414727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam78b
|
| Ensembl Gene |
ENSMUSG00000060568 |
| Gene Name |
family with sequence similarity 78, member B |
| Synonyms |
C030014K22Rik, C030020L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
166828986-166918871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166906323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 161
(T161S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126198]
[ENSMUST00000156025]
[ENSMUST00000165874]
[ENSMUST00000190081]
|
| AlphaFold |
Q8BQN5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000122929
AA Change: T156S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126198
AA Change: T161S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128373
AA Change: T153S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156025
AA Change: T161S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165874
AA Change: T161S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190081
AA Change: T161S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
probably damaging |
Het |
|
| Other mutations in Fam78b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02966:Fam78b
|
APN |
1 |
166,906,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Fam78b
|
APN |
1 |
166,906,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pacer
|
UTSW |
1 |
166,906,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Fam78b
|
UTSW |
1 |
166,829,313 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1443:Fam78b
|
UTSW |
1 |
166,906,329 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1475:Fam78b
|
UTSW |
1 |
166,829,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Fam78b
|
UTSW |
1 |
166,829,199 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1883:Fam78b
|
UTSW |
1 |
166,829,171 (GRCm39) |
missense |
probably benign |
|
|
R2118:Fam78b
|
UTSW |
1 |
166,906,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:Fam78b
|
UTSW |
1 |
166,906,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Fam78b
|
UTSW |
1 |
166,906,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Fam78b
|
UTSW |
1 |
166,906,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Fam78b
|
UTSW |
1 |
166,906,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Fam78b
|
UTSW |
1 |
166,906,369 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4167:Fam78b
|
UTSW |
1 |
166,829,301 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4439:Fam78b
|
UTSW |
1 |
166,906,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4441:Fam78b
|
UTSW |
1 |
166,906,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4795:Fam78b
|
UTSW |
1 |
166,906,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Fam78b
|
UTSW |
1 |
166,906,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6268:Fam78b
|
UTSW |
1 |
166,906,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Fam78b
|
UTSW |
1 |
166,906,419 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7195:Fam78b
|
UTSW |
1 |
166,906,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Fam78b
|
UTSW |
1 |
166,829,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Fam78b
|
UTSW |
1 |
166,906,332 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8803:Fam78b
|
UTSW |
1 |
166,829,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation