Incidental Mutation 'R4204:Fam83b'
| ID |
318833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83b
|
| Ensembl Gene |
ENSMUSG00000032358 |
| Gene Name |
family with sequence similarity 83, member B |
| Synonyms |
C530008M07Rik |
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
76490054-76567116 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76503053 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| 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: T192A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: T192A
| 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: T192A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: T192A
| 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 |
0.1005 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
C |
T |
6: 149,329,544 (GRCm38) |
R1363* |
probably null |
Het |
| Abca1 |
T |
C |
4: 53,090,369 (GRCm38) |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,380,478 (GRCm38) |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,726,424 (GRCm38) |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,889,745 (GRCm38) |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,681,155 (GRCm38) |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,463,399 (GRCm38) |
K646E |
probably damaging |
Het |
| Hgs |
C |
A |
11: 120,477,187 (GRCm38) |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,279,161 (GRCm38) |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,795,627 (GRCm38) |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,824,739 (GRCm38) |
S335A |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,969,816 (GRCm38) |
|
probably benign |
Het |
| Mfrp |
G |
A |
9: 44,105,228 (GRCm38) |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,781,510 (GRCm38) |
G160R |
probably damaging |
Het |
| Mkl2 |
A |
T |
16: 13,403,255 (GRCm38) |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,438,261 (GRCm38) |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,046,623 (GRCm38) |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 66,682,041 (GRCm38) |
Y33* |
probably null |
Het |
| Olfr1225 |
A |
G |
2: 89,170,780 (GRCm38) |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 36,994,684 (GRCm38) |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,222,545 (GRCm38) |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 148,963,527 (GRCm38) |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,738,050 (GRCm38) |
H62L |
probably benign |
Het |
| Prodh |
A |
G |
16: 18,072,318 (GRCm38) |
V553A |
probably damaging |
Het |
| Rasgef1c |
G |
A |
11: 49,958,708 (GRCm38) |
V137M |
probably benign |
Het |
| Rgl2 |
G |
T |
17: 33,936,932 (GRCm38) |
V694L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,049 (GRCm38) |
N294D |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,604,410 (GRCm38) |
A107T |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,173,443 (GRCm38) |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,556,462 (GRCm38) |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,961,082 (GRCm38) |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,833,618 (GRCm38) |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 100,933,415 (GRCm38) |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,563,765 (GRCm38) |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,987,564 (GRCm38) |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,894,593 (GRCm38) |
E43G |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,664,822 (GRCm38) |
E146K |
probably benign |
Het |
| Zfp800 |
C |
T |
6: 28,243,181 (GRCm38) |
S595N |
probably benign |
Het |
|
| Other mutations in Fam83b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Fam83b
|
APN |
9 |
76,490,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01554:Fam83b
|
APN |
9 |
76,502,121 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL01694:Fam83b
|
APN |
9 |
76,490,990 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02009:Fam83b
|
APN |
9 |
76,492,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02531:Fam83b
|
APN |
9 |
76,492,000 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL03328:Fam83b
|
APN |
9 |
76,493,042 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4581001:Fam83b
|
UTSW |
9 |
76,491,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Fam83b
|
UTSW |
9 |
76,492,826 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0469:Fam83b
|
UTSW |
9 |
76,492,826 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0510:Fam83b
|
UTSW |
9 |
76,492,826 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0732:Fam83b
|
UTSW |
9 |
76,492,928 (GRCm38) |
nonsense |
probably null |
|
|
R0946:Fam83b
|
UTSW |
9 |
76,491,397 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0961:Fam83b
|
UTSW |
9 |
76,491,295 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1101:Fam83b
|
UTSW |
9 |
76,545,670 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1200:Fam83b
|
UTSW |
9 |
76,492,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1248:Fam83b
|
UTSW |
9 |
76,503,076 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1420:Fam83b
|
UTSW |
9 |
76,492,612 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1429:Fam83b
|
UTSW |
9 |
76,492,577 (GRCm38) |
missense |
probably benign |
|
|
R1939:Fam83b
|
UTSW |
9 |
76,493,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1992:Fam83b
|
UTSW |
9 |
76,492,022 (GRCm38) |
missense |
probably benign |
|
|
R2102:Fam83b
|
UTSW |
9 |
76,492,705 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2134:Fam83b
|
UTSW |
9 |
76,491,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2398:Fam83b
|
UTSW |
9 |
76,502,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2878:Fam83b
|
UTSW |
9 |
76,490,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4092:Fam83b
|
UTSW |
9 |
76,491,661 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4537:Fam83b
|
UTSW |
9 |
76,492,142 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4920:Fam83b
|
UTSW |
9 |
76,491,868 (GRCm38) |
missense |
probably benign |
|
|
R5456:Fam83b
|
UTSW |
9 |
76,492,595 (GRCm38) |
missense |
probably benign |
|
|
R5473:Fam83b
|
UTSW |
9 |
76,491,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5488:Fam83b
|
UTSW |
9 |
76,545,599 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5489:Fam83b
|
UTSW |
9 |
76,545,599 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5876:Fam83b
|
UTSW |
9 |
76,491,850 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6150:Fam83b
|
UTSW |
9 |
76,492,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6374:Fam83b
|
UTSW |
9 |
76,492,907 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6468:Fam83b
|
UTSW |
9 |
76,502,131 (GRCm38) |
nonsense |
probably null |
|
|
R6912:Fam83b
|
UTSW |
9 |
76,490,932 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7022:Fam83b
|
UTSW |
9 |
76,502,112 (GRCm38) |
frame shift |
probably null |
|
|
R7073:Fam83b
|
UTSW |
9 |
76,545,749 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7356:Fam83b
|
UTSW |
9 |
76,492,853 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7665:Fam83b
|
UTSW |
9 |
76,490,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7762:Fam83b
|
UTSW |
9 |
76,492,432 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7790:Fam83b
|
UTSW |
9 |
76,492,048 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7869:Fam83b
|
UTSW |
9 |
76,492,144 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7879:Fam83b
|
UTSW |
9 |
76,492,455 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7957:Fam83b
|
UTSW |
9 |
76,491,985 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8067:Fam83b
|
UTSW |
9 |
76,491,098 (GRCm38) |
missense |
probably benign |
|
|
R8983:Fam83b
|
UTSW |
9 |
76,493,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Fam83b
|
UTSW |
9 |
76,492,794 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9405:Fam83b
|
UTSW |
9 |
76,491,421 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9475:Fam83b
|
UTSW |
9 |
76,491,803 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9656:Fam83b
|
UTSW |
9 |
76,545,581 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9690:Fam83b
|
UTSW |
9 |
76,491,220 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATCCAGAAGCAGATCCCAG -3'
(R):5'- TAACCATAACTGCAGGTTGCC -3'
Sequencing Primer
(F):5'- GATCCCAGAACAAACAGGCCTTC -3'
(R):5'- ACTGCAGGTTGCCTAAGTTATAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation