Incidental Mutation 'R0946:Fam83b'
ID |
82110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83b
|
Ensembl Gene |
ENSMUSG00000032358 |
Gene Name |
family with sequence similarity 83, member B |
Synonyms |
C530008M07Rik |
MMRRC Submission |
039085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0946 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76398679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 808
(V808D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098546]
[ENSMUST00000183437]
|
AlphaFold |
Q0VBM2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098546
AA Change: V808D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096146 Gene: ENSMUSG00000032358 AA Change: V808D
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 damaging
Transcript: ENSMUST00000183437
AA Change: V808D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139354 Gene: ENSMUSG00000032358 AA Change: V808D
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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230112D13Rik |
A |
G |
14: 34,234,099 (GRCm39) |
M64T |
unknown |
Het |
Adamts15 |
C |
T |
9: 30,813,493 (GRCm39) |
G891R |
probably damaging |
Het |
Adck5 |
G |
A |
15: 76,477,486 (GRCm39) |
V107I |
possibly damaging |
Het |
Aoc3 |
G |
A |
11: 101,223,131 (GRCm39) |
V456M |
possibly damaging |
Het |
Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,654,442 (GRCm39) |
H693R |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,406,509 (GRCm39) |
T414A |
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
Coasy |
G |
T |
11: 100,976,696 (GRCm39) |
V489F |
probably damaging |
Het |
Ercc6 |
A |
T |
14: 32,274,578 (GRCm39) |
M574L |
probably benign |
Het |
Esrrb |
T |
C |
12: 86,552,598 (GRCm39) |
L180P |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,909,100 (GRCm39) |
V2301I |
possibly damaging |
Het |
Ftdc1 |
C |
A |
16: 58,435,075 (GRCm39) |
R83S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,755,912 (GRCm39) |
Y43* |
probably null |
Het |
Hydin |
C |
A |
8: 111,257,685 (GRCm39) |
L2372M |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,809 (GRCm39) |
V145A |
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
Muc21 |
A |
C |
17: 35,929,105 (GRCm39) |
S1581A |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,142,577 (GRCm39) |
I913V |
possibly damaging |
Het |
Nat10 |
C |
T |
2: 103,561,719 (GRCm39) |
G654D |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
Nup50l |
A |
T |
6: 96,142,677 (GRCm39) |
N122K |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,128 (GRCm39) |
Y503C |
unknown |
Het |
Or11g7 |
C |
A |
14: 50,691,130 (GRCm39) |
T207K |
probably benign |
Het |
Pappa |
G |
T |
4: 65,233,029 (GRCm39) |
|
probably null |
Het |
Pfas |
A |
G |
11: 68,884,121 (GRCm39) |
|
probably null |
Het |
Pfas |
G |
T |
11: 68,881,573 (GRCm39) |
|
probably null |
Het |
Pign |
A |
T |
1: 105,519,422 (GRCm39) |
M500K |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,269,605 (GRCm39) |
K3313R |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,396,047 (GRCm39) |
V807A |
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
Rfpl4b |
A |
T |
10: 38,696,833 (GRCm39) |
I256N |
probably benign |
Het |
Skap1 |
C |
G |
11: 96,432,295 (GRCm39) |
S88* |
probably null |
Het |
Slc4a2 |
T |
C |
5: 24,640,884 (GRCm39) |
S742P |
probably damaging |
Het |
Supv3l1 |
T |
C |
10: 62,265,599 (GRCm39) |
D647G |
probably damaging |
Het |
Tmem184c |
A |
C |
8: 78,331,386 (GRCm39) |
V121G |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,507,421 (GRCm39) |
I118V |
probably benign |
Het |
Top1 |
T |
A |
2: 160,554,588 (GRCm39) |
Y446* |
probably null |
Het |
Trim37 |
A |
G |
11: 87,037,781 (GRCm39) |
R172G |
probably damaging |
Het |
Vgll4 |
C |
A |
6: 114,867,768 (GRCm39) |
|
probably null |
Het |
Vgll4 |
T |
A |
6: 114,867,769 (GRCm39) |
|
probably null |
Het |
Vmn1r5 |
T |
G |
6: 56,963,150 (GRCm39) |
I275S |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,187,874 (GRCm39) |
H584Q |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp282 |
T |
A |
6: 47,856,943 (GRCm39) |
W59R |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,754,103 (GRCm39) |
T186S |
probably benign |
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 |
|
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 |
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'- ACTTATCCCTGGAGAGGCGCTAAC -3'
(R):5'- CCTGTGTGTCAATAAGCAGAGGGAG -3'
Sequencing Primer
(F):5'- AGAGGCGCTAACCGCTATG -3'
(R):5'- TGCTCAAAAGGCGCAGTTTC -3'
|
Posted On |
2013-11-08 |