Incidental Mutation 'R1420:Fam83b'
| ID |
160055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83b
|
| Ensembl Gene |
ENSMUSG00000032358 |
| Gene Name |
family with sequence similarity 83, member B |
| Synonyms |
C530008M07Rik |
| MMRRC Submission |
039476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1420 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76399894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 403
(N403S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098546]
[ENSMUST00000183437]
|
| AlphaFold |
Q0VBM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098546
AA Change: N403S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: N403S
| 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 |
possibly damaging
Transcript: ENSMUST00000183437
AA Change: N403S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: N403S
| 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: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,331,799 (GRCm39) |
Y669H |
probably damaging |
Het |
| Amotl2 |
A |
T |
9: 102,601,982 (GRCm39) |
M409L |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,054 (GRCm39) |
E780G |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,837,234 (GRCm39) |
Y866C |
probably damaging |
Het |
| Cul4b |
G |
C |
X: 37,653,918 (GRCm39) |
|
probably null |
Het |
| Daw1 |
A |
T |
1: 83,137,548 (GRCm39) |
Y10F |
possibly damaging |
Het |
| Dgki |
A |
T |
6: 37,027,204 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,551,202 (GRCm39) |
V3039E |
probably damaging |
Het |
| Ercc4 |
C |
T |
16: 12,948,073 (GRCm39) |
T340I |
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,772,493 (GRCm39) |
F63L |
probably benign |
Het |
| Foxm1 |
G |
A |
6: 128,349,884 (GRCm39) |
R395H |
possibly damaging |
Het |
| Gtpbp4 |
C |
T |
13: 9,023,298 (GRCm39) |
A589T |
probably benign |
Het |
| Ifna7 |
C |
A |
4: 88,734,906 (GRCm39) |
H148N |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,463,181 (GRCm39) |
Y104C |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,668,286 (GRCm39) |
W347R |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,345,169 (GRCm39) |
F620V |
possibly damaging |
Het |
| Iqcd |
T |
C |
5: 120,738,860 (GRCm39) |
L226P |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,134,182 (GRCm39) |
R428L |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,529,962 (GRCm39) |
C733F |
probably damaging |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,552,904 (GRCm39) |
E4G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,349 (GRCm39) |
E350G |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,659,115 (GRCm39) |
A834V |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,263,073 (GRCm39) |
Q454* |
probably null |
Het |
| Nfatc2 |
C |
A |
2: 168,346,585 (GRCm39) |
M836I |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,913,092 (GRCm39) |
|
probably null |
Het |
| Olfml2b |
C |
T |
1: 170,496,596 (GRCm39) |
T409M |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,672,544 (GRCm39) |
K227R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,289 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pate1 |
A |
T |
9: 35,596,505 (GRCm39) |
W87R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,602,760 (GRCm39) |
Y341H |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,636,021 (GRCm39) |
V82A |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Prdm9 |
C |
A |
17: 15,764,638 (GRCm39) |
C714F |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,712,402 (GRCm39) |
V80A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,067 (GRCm39) |
L568P |
probably damaging |
Het |
| Rasgrp4 |
C |
A |
7: 28,839,770 (GRCm39) |
Q161K |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,345,772 (GRCm39) |
V413A |
probably damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,442 (GRCm39) |
T363A |
probably benign |
Het |
| Sufu |
T |
C |
19: 46,385,623 (GRCm39) |
S28P |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,165,440 (GRCm39) |
Y91* |
probably null |
Het |
| Ttbk2 |
C |
G |
2: 120,576,393 (GRCm39) |
R792S |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,303,586 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
G |
9: 95,344,856 (GRCm39) |
S907P |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,588,007 (GRCm39) |
L660* |
probably null |
Het |
| Wdr55 |
A |
G |
18: 36,893,392 (GRCm39) |
E18G |
probably benign |
Het |
| Wipi1 |
A |
G |
11: 109,469,198 (GRCm39) |
V331A |
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 |
|
|
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 |
|
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'- TCTGTCCCGTTAAATGACCTGCG -3'
(R):5'- TTCCGTTTCCAGCCAGAGAAACC -3'
Sequencing Primer
(F):5'- ATGACCTGCGTACATTTGAATTCC -3'
(R):5'- CCAGAGAAACCTTTTTGGCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation