Incidental Mutation 'R1475:Fam78b'
ID |
163975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam78b
|
Ensembl Gene |
ENSMUSG00000060568 |
Gene Name |
family with sequence similarity 78, member B |
Synonyms |
C030014K22Rik, C030020L09Rik |
MMRRC Submission |
039528-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R1475 (G1)
|
Quality Score |
205 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
166828986-166918871 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 166829346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 71
(I71N)
|
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: I66N
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126198
AA Change: I71N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000128373
AA Change: I63N
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156025
AA Change: I71N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165874
AA Change: I71N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181309
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190081
AA Change: I71N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.2860 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
A |
T |
8: 122,267,327 (GRCm39) |
|
probably benign |
Het |
9230112D13Rik |
T |
A |
14: 34,234,012 (GRCm39) |
D93V |
unknown |
Het |
Aatk |
G |
A |
11: 119,901,714 (GRCm39) |
T894M |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,333,313 (GRCm39) |
I479T |
possibly damaging |
Het |
Acap3 |
T |
C |
4: 155,987,278 (GRCm39) |
I431T |
probably damaging |
Het |
Adgrl1 |
A |
G |
8: 84,664,979 (GRCm39) |
K1267R |
possibly damaging |
Het |
Bphl |
A |
C |
13: 34,244,507 (GRCm39) |
D208A |
probably benign |
Het |
C2cd5 |
T |
C |
6: 143,018,298 (GRCm39) |
D308G |
possibly damaging |
Het |
Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
Cdk11b |
G |
A |
4: 155,718,674 (GRCm39) |
R208H |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,254,175 (GRCm39) |
|
probably benign |
Het |
Chrna4 |
T |
C |
2: 180,671,172 (GRCm39) |
S195G |
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,951,495 (GRCm39) |
L144S |
probably damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dffa |
T |
A |
4: 149,201,935 (GRCm39) |
L171Q |
probably damaging |
Het |
Emcn |
C |
T |
3: 137,085,668 (GRCm39) |
H89Y |
possibly damaging |
Het |
Espn |
G |
A |
4: 152,218,728 (GRCm39) |
P452S |
probably damaging |
Het |
Fam89b |
A |
G |
19: 5,779,447 (GRCm39) |
S37P |
probably damaging |
Het |
Fat4 |
G |
A |
3: 38,942,472 (GRCm39) |
R455H |
probably damaging |
Het |
Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
Fcamr |
T |
A |
1: 130,742,221 (GRCm39) |
|
probably null |
Het |
Fermt3 |
T |
C |
19: 6,996,242 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
T |
2: 82,817,539 (GRCm39) |
D4424V |
probably damaging |
Het |
Gaa |
G |
A |
11: 119,165,142 (GRCm39) |
|
probably null |
Het |
Glce |
T |
C |
9: 61,968,210 (GRCm39) |
T314A |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,093,012 (GRCm39) |
Q575R |
possibly damaging |
Het |
Il23r |
C |
A |
6: 67,429,280 (GRCm39) |
|
probably null |
Het |
Kcnj4 |
T |
A |
15: 79,368,831 (GRCm39) |
E383V |
probably damaging |
Het |
Lrsam1 |
G |
T |
2: 32,844,277 (GRCm39) |
Q115K |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,882,797 (GRCm39) |
|
probably null |
Het |
Myf5 |
A |
G |
10: 107,320,515 (GRCm39) |
V190A |
probably benign |
Het |
Nmnat2 |
G |
A |
1: 152,950,441 (GRCm39) |
R42H |
probably damaging |
Het |
Or8b42 |
T |
A |
9: 38,342,160 (GRCm39) |
V194D |
probably benign |
Het |
Or8k20 |
A |
T |
2: 86,105,905 (GRCm39) |
*309R |
probably null |
Het |
Osbpl1a |
T |
A |
18: 12,890,737 (GRCm39) |
K380M |
probably damaging |
Het |
Pgd |
T |
C |
4: 149,241,232 (GRCm39) |
T226A |
probably benign |
Het |
Pitpnm3 |
T |
C |
11: 71,965,453 (GRCm39) |
T127A |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,165 (GRCm39) |
D954G |
possibly damaging |
Het |
Pramel14 |
T |
C |
4: 143,720,882 (GRCm39) |
K20E |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,801,047 (GRCm39) |
F236I |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,885,785 (GRCm39) |
N63S |
probably benign |
Het |
Syf2 |
T |
A |
4: 134,662,745 (GRCm39) |
M145K |
possibly damaging |
Het |
Usp34 |
C |
A |
11: 23,423,253 (GRCm39) |
L3152I |
probably damaging |
Het |
Usp50 |
T |
C |
2: 126,611,787 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,830,645 (GRCm39) |
I929N |
probably benign |
Het |
Zfp874b |
A |
T |
13: 67,622,211 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCTGTATCCAAAGCATCACC -3'
(R):5'- CTGTCACTGAAACAAAAGCGCAGG -3'
Sequencing Primer
(F):5'- AGCATCACCTGCAAGGC -3'
(R):5'- GAGGCAGGAGGAAGGTTCG -3'
|
Posted On |
2014-03-28 |