Incidental Mutation 'R0961:Fam83b'
ID |
81889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83b
|
Ensembl Gene |
ENSMUSG00000032358 |
Gene Name |
family with sequence similarity 83, member B |
Synonyms |
C530008M07Rik |
MMRRC Submission |
039090-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0961 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76398577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 842
(I842N)
|
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: I842N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096146 Gene: ENSMUSG00000032358 AA Change: I842N
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: I842N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139354 Gene: ENSMUSG00000032358 AA Change: I842N
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 |
0.1232 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.6%
- 20x: 89.7%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
C |
2: 151,314,686 (GRCm39) |
S331A |
probably benign |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
4933412E24Rik |
T |
C |
15: 59,887,160 (GRCm39) |
I427V |
probably benign |
Het |
Abca15 |
A |
T |
7: 119,960,208 (GRCm39) |
K664* |
probably null |
Het |
Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
Aox1 |
T |
A |
1: 58,349,230 (GRCm39) |
D665E |
probably benign |
Het |
Arhgap22 |
C |
T |
14: 33,089,070 (GRCm39) |
T352M |
probably damaging |
Het |
Atg9a |
G |
A |
1: 75,163,390 (GRCm39) |
L237F |
probably damaging |
Het |
Ccdc178 |
T |
G |
18: 22,152,098 (GRCm39) |
K672T |
possibly damaging |
Het |
Ccdc63 |
T |
G |
5: 122,249,009 (GRCm39) |
K440T |
possibly damaging |
Het |
Cd55b |
A |
T |
1: 130,341,813 (GRCm39) |
W275R |
probably damaging |
Het |
Col4a3 |
T |
C |
1: 82,686,297 (GRCm39) |
|
probably benign |
Het |
Dmpk |
C |
G |
7: 18,821,195 (GRCm39) |
D204E |
probably damaging |
Het |
Egfr |
T |
C |
11: 16,812,964 (GRCm39) |
V148A |
probably damaging |
Het |
F11 |
A |
T |
8: 45,694,531 (GRCm39) |
V610E |
probably damaging |
Het |
Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
Fzd6 |
C |
T |
15: 38,889,073 (GRCm39) |
L64F |
probably damaging |
Het |
Galntl6 |
A |
T |
8: 59,364,374 (GRCm39) |
H45Q |
probably benign |
Het |
Gbp7 |
C |
A |
3: 142,247,318 (GRCm39) |
S276* |
probably null |
Het |
Gnb5 |
A |
T |
9: 75,242,933 (GRCm39) |
I168F |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,805,403 (GRCm39) |
|
probably benign |
Het |
Gpat4 |
C |
T |
8: 23,670,927 (GRCm39) |
C95Y |
probably damaging |
Het |
Gstm7 |
T |
A |
3: 107,834,302 (GRCm39) |
|
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,755,745 (GRCm39) |
|
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kank4 |
G |
A |
4: 98,644,756 (GRCm39) |
R999W |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,379,219 (GRCm39) |
V92A |
probably benign |
Het |
Klhl9 |
T |
C |
4: 88,639,974 (GRCm39) |
D89G |
probably benign |
Het |
Klre1 |
A |
G |
6: 129,559,378 (GRCm39) |
T103A |
probably benign |
Het |
Lamc1 |
CGCTGGC |
CGC |
1: 153,097,392 (GRCm39) |
|
probably null |
Het |
Lamc1 |
G |
T |
1: 153,097,446 (GRCm39) |
L1533I |
probably benign |
Het |
Lca5l |
T |
C |
16: 95,962,560 (GRCm39) |
H455R |
possibly damaging |
Het |
Lmo7 |
C |
A |
14: 102,031,705 (GRCm39) |
T33K |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,640,895 (GRCm39) |
|
probably benign |
Het |
Mep1b |
T |
A |
18: 21,221,786 (GRCm39) |
Y245* |
probably null |
Het |
Mettl24 |
A |
G |
10: 40,686,615 (GRCm39) |
T331A |
possibly damaging |
Het |
Mycbp2 |
A |
C |
14: 103,422,271 (GRCm39) |
D2467E |
probably damaging |
Het |
Myo15b |
T |
C |
11: 115,773,280 (GRCm39) |
S1871P |
probably benign |
Het |
Ncbp1 |
T |
C |
4: 46,165,193 (GRCm39) |
L502P |
possibly damaging |
Het |
Npr1 |
T |
C |
3: 90,366,028 (GRCm39) |
N588D |
possibly damaging |
Het |
Or2g7 |
T |
A |
17: 38,378,814 (GRCm39) |
Y251N |
probably damaging |
Het |
Or8k16 |
A |
T |
2: 85,519,790 (GRCm39) |
T6S |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Phactr4 |
A |
G |
4: 132,105,731 (GRCm39) |
S112P |
probably benign |
Het |
R3hdm1 |
C |
T |
1: 128,121,333 (GRCm39) |
T279I |
probably benign |
Het |
Rere |
A |
G |
4: 150,699,829 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,709,122 (GRCm39) |
E4779V |
unknown |
Het |
Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
Slc10a5 |
T |
C |
3: 10,399,484 (GRCm39) |
H392R |
probably benign |
Het |
Slc26a4 |
T |
C |
12: 31,585,618 (GRCm39) |
T477A |
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,865,618 (GRCm39) |
V922A |
possibly damaging |
Het |
Sptan1 |
T |
A |
2: 29,870,075 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,523,920 (GRCm39) |
D705G |
probably benign |
Het |
Tdpoz3 |
T |
A |
3: 93,734,188 (GRCm39) |
S288T |
probably benign |
Het |
Tsga10 |
A |
G |
1: 37,800,509 (GRCm39) |
|
probably null |
Het |
Usp18 |
G |
A |
6: 121,238,452 (GRCm39) |
A200T |
probably benign |
Het |
Zfp759 |
A |
T |
13: 67,287,927 (GRCm39) |
T493S |
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 |
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 |
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'- TGAGCTGATCTCCTTGGAATCCCG -3'
(R):5'- TGCTCAAAAGGCGCAGTTTCCC -3'
Sequencing Primer
(F):5'- GGAGAAGGCGCTATTCTTCT -3'
(R):5'- AGGTTATCGAGAGAGACCCTCC -3'
|
Posted On |
2013-11-08 |