Incidental Mutation 'R2878:Fam83b'
ID |
260176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83b
|
Ensembl Gene |
ENSMUSG00000032358 |
Gene Name |
family with sequence similarity 83, member B |
Synonyms |
C530008M07Rik |
MMRRC Submission |
040466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R2878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76398092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1004
(F1004L)
|
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: F1004L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096146 Gene: ENSMUSG00000032358 AA Change: F1004L
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: F1004L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139354 Gene: ENSMUSG00000032358 AA Change: F1004L
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 |
0.0724 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
92% (58/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
Adgrg7 |
A |
G |
16: 56,570,817 (GRCm39) |
F404L |
probably benign |
Het |
Akr1c20 |
G |
A |
13: 4,557,774 (GRCm39) |
T251M |
probably damaging |
Het |
Amph |
G |
A |
13: 19,288,437 (GRCm39) |
V309I |
possibly damaging |
Het |
Ano2 |
T |
G |
6: 125,840,481 (GRCm39) |
F384C |
probably damaging |
Het |
Aplf |
G |
A |
6: 87,645,409 (GRCm39) |
R32* |
probably null |
Het |
Arhgef18 |
A |
G |
8: 3,482,759 (GRCm39) |
M155V |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
Camkmt |
T |
C |
17: 85,738,979 (GRCm39) |
|
probably benign |
Het |
Capn2 |
T |
A |
1: 182,344,798 (GRCm39) |
E41V |
probably benign |
Het |
Cd53 |
T |
C |
3: 106,674,732 (GRCm39) |
T112A |
probably benign |
Het |
Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
Dact2 |
A |
T |
17: 14,416,176 (GRCm39) |
S675T |
probably damaging |
Het |
Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,717,603 (GRCm39) |
H58Q |
probably benign |
Het |
F13b |
T |
C |
1: 139,429,485 (GRCm39) |
M1T |
probably null |
Het |
Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
Fscb |
A |
T |
12: 64,519,348 (GRCm39) |
V706E |
unknown |
Het |
Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
Gm17546 |
A |
T |
15: 95,727,805 (GRCm39) |
|
probably benign |
Het |
Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,751,530 (GRCm39) |
E607V |
possibly damaging |
Het |
Map3k4 |
T |
C |
17: 12,482,954 (GRCm39) |
S588G |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
Nfatc3 |
C |
A |
8: 106,818,776 (GRCm39) |
T498K |
probably damaging |
Het |
Nfkb2 |
G |
A |
19: 46,295,880 (GRCm39) |
R158H |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,947,014 (GRCm39) |
E4337G |
possibly damaging |
Het |
Or5b106 |
A |
G |
19: 13,123,771 (GRCm39) |
L84P |
probably benign |
Het |
Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,729,649 (GRCm39) |
E333G |
probably damaging |
Het |
Rem2 |
A |
G |
14: 54,713,819 (GRCm39) |
T31A |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,579,730 (GRCm39) |
D1224G |
possibly damaging |
Het |
Rp1 |
A |
G |
1: 4,418,362 (GRCm39) |
S917P |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,518,715 (GRCm39) |
G363D |
probably damaging |
Het |
Shcbp1l |
A |
T |
1: 153,313,264 (GRCm39) |
|
probably benign |
Het |
Skor2 |
G |
T |
18: 76,948,419 (GRCm39) |
E714* |
probably null |
Het |
Slc15a1 |
T |
A |
14: 121,703,345 (GRCm39) |
K545N |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,591,512 (GRCm39) |
M414K |
probably damaging |
Het |
Slc7a8 |
A |
G |
14: 54,997,143 (GRCm39) |
S70P |
probably damaging |
Het |
Spopfm1 |
G |
T |
3: 94,173,787 (GRCm39) |
C265F |
possibly damaging |
Het |
Taf1a |
A |
G |
1: 183,179,173 (GRCm39) |
E117G |
probably damaging |
Het |
Trem2 |
A |
G |
17: 48,658,141 (GRCm39) |
D135G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
Unc80 |
TGTATTCCAGGCG |
TG |
1: 66,710,735 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
Wdr45 |
C |
T |
X: 7,593,611 (GRCm39) |
P271S |
probably damaging |
Het |
Zfp410 |
A |
C |
12: 84,378,411 (GRCm39) |
N245T |
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 |
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 |
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'- TAGATAGGACACAATGAATCCCATC -3'
(R):5'- TGAGAGCTCTATTCAGCCAGC -3'
Sequencing Primer
(F):5'- TAGGACACAATGAATCCCATCTACAG -3'
(R):5'- TCTATTCAGCCAGCGAGCAG -3'
|
Posted On |
2015-01-23 |