Incidental Mutation 'R9656:Fam83b'
| ID |
727331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83b
|
| Ensembl Gene |
ENSMUSG00000032358 |
| Gene Name |
family with sequence similarity 83, member B |
| Synonyms |
C530008M07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76452863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 68
(V68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098546]
[ENSMUST00000183437]
|
| AlphaFold |
Q0VBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098546
AA Change: V68A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: V68A
| 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: V68A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: V68A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
G |
A |
8: 10,037,991 (GRCm39) |
G196E |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,922,061 (GRCm39) |
T635I |
possibly damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,545 (GRCm39) |
N219K |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,994,407 (GRCm39) |
T623S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,857,318 (GRCm39) |
L364P |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,985 (GRCm39) |
D164G |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,235,816 (GRCm39) |
M631K |
|
Het |
| Col1a1 |
T |
A |
11: 94,839,372 (GRCm39) |
S1006T |
unknown |
Het |
| Cpe |
T |
C |
8: 65,047,980 (GRCm39) |
Y428C |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,677,059 (GRCm39) |
V122L |
probably benign |
Het |
| Fam114a1 |
T |
C |
5: 65,163,246 (GRCm39) |
I181T |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,031,482 (GRCm39) |
V403G |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,397,471 (GRCm39) |
H872R |
possibly damaging |
Het |
| Grpel2 |
G |
T |
18: 61,859,361 (GRCm39) |
R4S |
probably benign |
Het |
| Gstm1 |
T |
C |
3: 107,925,072 (GRCm39) |
Y7C |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,547,545 (GRCm39) |
I497F |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,279,196 (GRCm39) |
V3093A |
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,295 (GRCm39) |
F99I |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,299,839 (GRCm39) |
M963V |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,471 (GRCm39) |
E263G |
|
Het |
| L1td1 |
T |
C |
4: 98,622,223 (GRCm39) |
F262L |
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,158 (GRCm39) |
H110R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,274,846 (GRCm39) |
I135T |
probably damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,830,766 (GRCm39) |
R695H |
probably damaging |
Het |
| Nkx1-2 |
T |
A |
7: 132,201,228 (GRCm39) |
K10* |
probably null |
Het |
| Or2t44 |
G |
A |
11: 58,677,635 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,122,633 (GRCm39) |
T7S |
probably benign |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,035 (GRCm39) |
H129R |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,247 (GRCm39) |
Y36C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,567 (GRCm39) |
T719A |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,818 (GRCm39) |
I3216M |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,187 (GRCm39) |
D252G |
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,854,590 (GRCm39) |
Y332* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,940,121 (GRCm39) |
D50E |
unknown |
Het |
| Rbm6 |
G |
A |
9: 107,656,778 (GRCm39) |
R1000W |
probably damaging |
Het |
| Rd3l |
A |
T |
12: 111,946,614 (GRCm39) |
V54E |
possibly damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,714 (GRCm39) |
V370A |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,709,679 (GRCm39) |
I449M |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,112,264 (GRCm39) |
S117T |
possibly damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,968,144 (GRCm39) |
Y370C |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,391 (GRCm39) |
V85L |
probably damaging |
Het |
| Snrpn |
A |
T |
7: 59,635,715 (GRCm39) |
V95E |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Spata33 |
A |
T |
8: 123,948,758 (GRCm39) |
N130I |
possibly damaging |
Het |
| Spmip2 |
T |
A |
3: 79,313,183 (GRCm39) |
F86I |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,412,525 (GRCm39) |
S521G |
probably damaging |
Het |
| Tbc1d13 |
C |
T |
2: 30,032,429 (GRCm39) |
T180I |
possibly damaging |
Het |
| Tgm7 |
G |
A |
2: 120,940,191 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,664,459 (GRCm39) |
M583T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vmn1r43 |
A |
T |
6: 89,847,440 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,417 (GRCm39) |
V369E |
probably damaging |
Het |
| Zfp467 |
T |
A |
6: 48,419,603 (GRCm39) |
E35V |
possibly 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 |
|
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 |
|
R9690:Fam83b
|
UTSW |
9 |
76,398,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGGTCTATGTGGGTACTCC -3'
(R):5'- TTGAAAGTTCCCCTCATCCAAC -3'
Sequencing Primer
(F):5'- CCTAAGAGTCCGGGCATCAC -3'
(R):5'- CATGGAGGCTTCATCAATGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation