Incidental Mutation 'R4152:Fam78b'
ID |
314933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam78b
|
Ensembl Gene |
ENSMUSG00000060568 |
Gene Name |
family with sequence similarity 78, member B |
Synonyms |
C030014K22Rik, C030020L09Rik |
MMRRC Submission |
040996-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R4152 (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 166906369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 176
(M176T)
|
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: M171T
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126198
AA Change: M176T
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000128373
AA Change: M168T
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156025
AA Change: M176T
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165874
AA Change: M176T
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190081
AA Change: M176T
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.0590 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
G |
11: 84,183,752 (GRCm39) |
M31R |
possibly damaging |
Het |
Akap6 |
A |
C |
12: 53,187,190 (GRCm39) |
S1535R |
probably benign |
Het |
Ap3b2 |
A |
G |
7: 81,127,765 (GRCm39) |
I137T |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,812,857 (GRCm39) |
S36G |
probably damaging |
Het |
Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,267,227 (GRCm39) |
|
probably null |
Het |
Crem |
G |
T |
18: 3,288,055 (GRCm39) |
N179K |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,322 (GRCm39) |
H2036Q |
possibly damaging |
Het |
Gcn1 |
A |
G |
5: 115,751,413 (GRCm39) |
|
probably null |
Het |
Gm6483 |
T |
C |
8: 19,737,926 (GRCm39) |
|
noncoding transcript |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Klk1b16 |
T |
C |
7: 43,789,973 (GRCm39) |
F81S |
probably benign |
Het |
Lpgat1 |
C |
A |
1: 191,451,600 (GRCm39) |
Y36* |
probably null |
Het |
Mavs |
A |
G |
2: 131,088,528 (GRCm39) |
D444G |
probably benign |
Het |
Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
Nemp2 |
A |
G |
1: 52,680,210 (GRCm39) |
S145G |
probably benign |
Het |
Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
Or7g20 |
T |
A |
9: 18,946,816 (GRCm39) |
Y132* |
probably null |
Het |
Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,823,514 (GRCm39) |
C92* |
probably null |
Het |
Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
Phf3 |
C |
T |
1: 30,870,539 (GRCm39) |
V116I |
probably benign |
Het |
Prl8a2 |
T |
C |
13: 27,534,985 (GRCm39) |
Y86H |
possibly damaging |
Het |
Rab4b |
T |
C |
7: 26,875,551 (GRCm39) |
|
probably benign |
Het |
Rsad1 |
T |
C |
11: 94,439,449 (GRCm39) |
|
probably benign |
Het |
Sim1 |
G |
A |
10: 50,859,950 (GRCm39) |
C604Y |
probably damaging |
Het |
Slc5a3 |
T |
A |
16: 91,874,696 (GRCm39) |
L251* |
probably null |
Het |
Slit3 |
A |
G |
11: 35,589,147 (GRCm39) |
N1234S |
probably damaging |
Het |
Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
Snx31 |
T |
C |
15: 36,525,785 (GRCm39) |
N305D |
probably benign |
Het |
St14 |
T |
C |
9: 31,001,802 (GRCm39) |
I768V |
probably benign |
Het |
Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
Tlr6 |
A |
C |
5: 65,110,555 (GRCm39) |
F784C |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,836,427 (GRCm39) |
V701A |
probably benign |
Het |
Tspan15 |
A |
T |
10: 62,025,621 (GRCm39) |
M197K |
possibly damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
T |
A |
5: 151,485,730 (GRCm39) |
Q588L |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,654,800 (GRCm39) |
D503G |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
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 |
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'- AAGCCATCAGTGACTCAGACG -3'
(R):5'- GCTTCACTAGTGCGTTAGGG -3'
Sequencing Primer
(F):5'- TGAGCTACCCATGGTACGG -3'
(R):5'- TGAAGAGGGTCCACTTCA -3'
|
Posted On |
2015-05-14 |