Incidental Mutation 'R1429:Fam83b'
| ID |
161445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83b
|
| Ensembl Gene |
ENSMUSG00000032358 |
| Gene Name |
family with sequence similarity 83, member B |
| Synonyms |
C530008M07Rik |
| MMRRC Submission |
039485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76399859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 415
(R415S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098546]
[ENSMUST00000183437]
|
| AlphaFold |
Q0VBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098546
AA Change: R415S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: R415S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
12 |
282 |
5.6e-109 |
PFAM |
|
Pfam:PLDc_2
|
139 |
277 |
2.4e-12 |
PFAM |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183437
AA Change: R415S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: R415S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
7 |
283 |
2.8e-111 |
PFAM |
|
Pfam:PLDc_2
|
139 |
277 |
2.4e-9 |
PFAM |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
846 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,159,512 (GRCm39) |
I23T |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,238,364 (GRCm39) |
I66N |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
| Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
| Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
| Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
| Gpat3 |
G |
A |
5: 101,040,953 (GRCm39) |
G338S |
probably damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,444,157 (GRCm39) |
|
probably null |
Het |
| Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
| Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
| Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
| Pmel |
G |
A |
10: 128,554,861 (GRCm39) |
|
probably null |
Het |
| Rassf8 |
G |
T |
6: 145,760,916 (GRCm39) |
G81W |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
| S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
| Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
probably damaging |
Het |
|
| Other mutations in Fam83b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Fam83b
|
APN |
9 |
76,398,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01554:Fam83b
|
APN |
9 |
76,409,403 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01694:Fam83b
|
APN |
9 |
76,398,272 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02009:Fam83b
|
APN |
9 |
76,399,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02531:Fam83b
|
APN |
9 |
76,399,282 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03328:Fam83b
|
APN |
9 |
76,400,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4581001:Fam83b
|
UTSW |
9 |
76,398,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Fam83b
|
UTSW |
9 |
76,400,108 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0469:Fam83b
|
UTSW |
9 |
76,400,108 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0510:Fam83b
|
UTSW |
9 |
76,400,108 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0732:Fam83b
|
UTSW |
9 |
76,400,210 (GRCm39) |
nonsense |
probably null |
|
|
R0946:Fam83b
|
UTSW |
9 |
76,398,679 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0961:Fam83b
|
UTSW |
9 |
76,398,577 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1101:Fam83b
|
UTSW |
9 |
76,452,952 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1200:Fam83b
|
UTSW |
9 |
76,399,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Fam83b
|
UTSW |
9 |
76,410,358 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1420:Fam83b
|
UTSW |
9 |
76,399,894 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1939:Fam83b
|
UTSW |
9 |
76,400,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Fam83b
|
UTSW |
9 |
76,399,304 (GRCm39) |
missense |
probably benign |
|
|
R2102:Fam83b
|
UTSW |
9 |
76,399,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2134:Fam83b
|
UTSW |
9 |
76,398,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2398:Fam83b
|
UTSW |
9 |
76,409,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Fam83b
|
UTSW |
9 |
76,398,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4092:Fam83b
|
UTSW |
9 |
76,398,943 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4204:Fam83b
|
UTSW |
9 |
76,410,335 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4537:Fam83b
|
UTSW |
9 |
76,399,424 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4920:Fam83b
|
UTSW |
9 |
76,399,150 (GRCm39) |
missense |
probably benign |
|
|
R5456:Fam83b
|
UTSW |
9 |
76,399,877 (GRCm39) |
missense |
probably benign |
|
|
R5473:Fam83b
|
UTSW |
9 |
76,398,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Fam83b
|
UTSW |
9 |
76,452,881 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5489:Fam83b
|
UTSW |
9 |
76,452,881 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5876:Fam83b
|
UTSW |
9 |
76,399,132 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6150:Fam83b
|
UTSW |
9 |
76,399,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Fam83b
|
UTSW |
9 |
76,400,189 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6468:Fam83b
|
UTSW |
9 |
76,409,413 (GRCm39) |
nonsense |
probably null |
|
|
R6912:Fam83b
|
UTSW |
9 |
76,398,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7022:Fam83b
|
UTSW |
9 |
76,409,394 (GRCm39) |
frame shift |
probably null |
|
|
R7073:Fam83b
|
UTSW |
9 |
76,453,031 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7356:Fam83b
|
UTSW |
9 |
76,400,135 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7665:Fam83b
|
UTSW |
9 |
76,398,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Fam83b
|
UTSW |
9 |
76,399,714 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7790:Fam83b
|
UTSW |
9 |
76,399,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7869:Fam83b
|
UTSW |
9 |
76,399,426 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7879:Fam83b
|
UTSW |
9 |
76,399,737 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7957:Fam83b
|
UTSW |
9 |
76,399,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8067:Fam83b
|
UTSW |
9 |
76,398,380 (GRCm39) |
missense |
probably benign |
|
|
R8983:Fam83b
|
UTSW |
9 |
76,400,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Fam83b
|
UTSW |
9 |
76,400,076 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9405:Fam83b
|
UTSW |
9 |
76,398,703 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9475:Fam83b
|
UTSW |
9 |
76,399,085 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9656:Fam83b
|
UTSW |
9 |
76,452,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9690:Fam83b
|
UTSW |
9 |
76,398,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATTCAATTCTCCAGCTCCGCAG -3'
(R):5'- TCAATGGTCCAAGTACAATCCGCC -3'
Sequencing Primer
(F):5'- CAGGAAAGACTTCGTGGTATTCTC -3'
(R):5'- TCCAAGTACAATCCGCCACTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation