Incidental Mutation 'R4167:Fam78b'
| ID |
320611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam78b
|
| Ensembl Gene |
ENSMUSG00000060568 |
| Gene Name |
family with sequence similarity 78, member B |
| Synonyms |
C030014K22Rik, C030020L09Rik |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166828986-166918871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 166829301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 51
(V51A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126198]
[ENSMUST00000156025]
[ENSMUST00000165874]
[ENSMUST00000190081]
|
| AlphaFold |
Q8BQN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122929
AA Change: V51A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126198
AA Change: V56A
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128373
AA Change: V48A
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156025
AA Change: V56A
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165874
AA Change: V56A
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190081
AA Change: V56A
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0586 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
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 |
|
IGL03258:Fam78b
|
APN |
1 |
166,906,323 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGATGGGCTGTATCCAAAG -3'
(R):5'- TGTCACTGAAACAAAAGCGC -3'
Sequencing Primer
(F):5'- GATGGGCTGTATCCAAAGCATCAC -3'
(R):5'- TTCGGAAAGAGATGGGGGCAAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation