Incidental Mutation 'R6150:Fam83b'
| ID |
489199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83b
|
| Ensembl Gene |
ENSMUSG00000032358 |
| Gene Name |
family with sequence similarity 83, member B |
| Synonyms |
C530008M07Rik |
| MMRRC Submission |
044297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76399639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 488
(T488M)
|
| 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: T488M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: T488M
| 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: T488M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: T488M
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,104,334 (GRCm39) |
T74A |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,618,782 (GRCm39) |
|
probably null |
Het |
| Art1 |
C |
G |
7: 101,756,294 (GRCm39) |
R162G |
probably benign |
Het |
| Boll |
T |
A |
1: 55,309,812 (GRCm39) |
I280F |
possibly damaging |
Het |
| Cep44 |
T |
C |
8: 56,992,840 (GRCm39) |
E258G |
probably benign |
Het |
| Cutc |
T |
A |
19: 43,748,328 (GRCm39) |
V75E |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,428 (GRCm39) |
K590R |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,494,172 (GRCm39) |
D295E |
probably damaging |
Het |
| Erc2 |
C |
A |
14: 27,863,248 (GRCm39) |
S491Y |
probably damaging |
Het |
| F2rl3 |
G |
T |
8: 73,489,366 (GRCm39) |
A198S |
probably benign |
Het |
| Fitm2 |
A |
G |
2: 163,311,994 (GRCm39) |
L73P |
probably damaging |
Het |
| Fxyd1 |
T |
C |
7: 30,754,228 (GRCm39) |
|
probably null |
Het |
| Gm17186 |
T |
C |
14: 51,918,183 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
C |
A |
4: 119,591,274 (GRCm39) |
S94* |
probably null |
Het |
| Ifna1 |
T |
A |
4: 88,768,349 (GRCm39) |
M9K |
probably null |
Het |
| Igsf11 |
G |
A |
16: 38,843,711 (GRCm39) |
E275K |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,104,769 (GRCm39) |
L1086F |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,606,780 (GRCm39) |
S374P |
probably benign |
Het |
| Jmy |
A |
T |
13: 93,577,641 (GRCm39) |
N842K |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,557 (GRCm39) |
V595M |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,989,088 (GRCm39) |
I823N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,111 (GRCm39) |
L1069P |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,287,902 (GRCm39) |
|
probably benign |
Het |
| Map10 |
G |
A |
8: 126,398,328 (GRCm39) |
D574N |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,487 (GRCm39) |
H565Q |
probably benign |
Het |
| Myb |
A |
G |
10: 21,017,668 (GRCm39) |
I641T |
probably damaging |
Het |
| Naaladl2 |
C |
A |
3: 24,606,214 (GRCm39) |
G15V |
probably null |
Het |
| Or10k2 |
G |
A |
8: 84,267,782 (GRCm39) |
C3Y |
probably benign |
Het |
| Or3a4 |
A |
C |
11: 73,945,145 (GRCm39) |
S147A |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,170 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
G |
7: 45,913,483 (GRCm39) |
E772G |
possibly damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,045 (GRCm39) |
D674G |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,942,137 (GRCm39) |
|
probably null |
Het |
| Pomk |
A |
G |
8: 26,473,284 (GRCm39) |
V223A |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Serpina1e |
A |
G |
12: 103,917,066 (GRCm39) |
V201A |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,831,446 (GRCm39) |
P646S |
probably benign |
Het |
| Slc17a9 |
A |
G |
2: 180,379,421 (GRCm39) |
I298V |
probably benign |
Het |
| Slc37a2 |
G |
T |
9: 37,149,643 (GRCm39) |
T188K |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,222,579 (GRCm39) |
F525I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,461,516 (GRCm39) |
D1504V |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,134,000 (GRCm39) |
M907K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,501 (GRCm39) |
N376K |
possibly damaging |
Het |
| Tekt3 |
A |
T |
11: 62,985,483 (GRCm39) |
T430S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,457,906 (GRCm39) |
V508D |
probably benign |
Het |
| Tmem184c |
G |
T |
8: 78,323,069 (GRCm39) |
Q598K |
probably benign |
Het |
| Ube2v1 |
G |
A |
2: 167,459,874 (GRCm39) |
R42* |
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,091,835 (GRCm39) |
T84A |
probably damaging |
Het |
| Vgll3 |
T |
A |
16: 65,625,064 (GRCm39) |
|
probably null |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,678 (GRCm39) |
H212L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,269 (GRCm39) |
V737A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,555 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,128,073 (GRCm39) |
Y965* |
probably null |
Het |
| Zfp521 |
A |
T |
18: 13,977,135 (GRCm39) |
C1093S |
probably damaging |
Het |
| Zfp971 |
A |
C |
2: 177,675,247 (GRCm39) |
H282P |
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 |
|
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 |
|
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'- GCCAGTTGTACAGCTGTTGAC -3'
(R):5'- GTGTAGCATCCTCATTAAGGGG -3'
Sequencing Primer
(F):5'- GTTCCGGTAAAGTTGGTTTAAACAC -3'
(R):5'- CTCATTAAGGGGAGGACAAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation