Incidental Mutation 'R4537:Fam83b'
ID |
333379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83b
|
Ensembl Gene |
ENSMUSG00000032358 |
Gene Name |
family with sequence similarity 83, member B |
Synonyms |
C530008M07Rik |
MMRRC Submission |
041774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R4537 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76399424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 560
(T560A)
|
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: T560A
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000096146 Gene: ENSMUSG00000032358 AA Change: T560A
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: T560A
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000139354 Gene: ENSMUSG00000032358 AA Change: T560A
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 |
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
Fus |
A |
G |
7: 127,575,087 (GRCm39) |
D268G |
probably damaging |
Het |
Gm14412 |
T |
A |
2: 177,006,352 (GRCm39) |
K514N |
probably benign |
Het |
Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
Oxr1 |
A |
G |
15: 41,683,915 (GRCm39) |
Q515R |
possibly damaging |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
Slc2a3 |
C |
A |
6: 122,714,063 (GRCm39) |
G157V |
probably damaging |
Het |
Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
Srd5a3 |
G |
A |
5: 76,297,798 (GRCm39) |
|
probably null |
Het |
Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
probably null |
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 |
R1429:Fam83b
|
UTSW |
9 |
76,399,859 (GRCm39) |
missense |
probably benign |
|
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 |
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'- AGTTGTTTAATTCTGCTCGGCC -3'
(R):5'- ACGAAGTCTTTCCTGCGGAG -3'
Sequencing Primer
(F):5'- GTTTAATTCTGCTCGGCCATTTG -3'
(R):5'- CGGAGCTGGAGAATTGAATCGTAC -3'
|
Posted On |
2015-08-18 |