Incidental Mutation 'R7957:Fam83b'
ID |
649899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam83b
|
Ensembl Gene |
ENSMUSG00000032358 |
Gene Name |
family with sequence similarity 83, member B |
Synonyms |
C530008M07Rik |
MMRRC Submission |
046001-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R7957 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76399267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 612
(H612L)
|
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: H612L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000096146 Gene: ENSMUSG00000032358 AA Change: H612L
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: H612L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000139354 Gene: ENSMUSG00000032358 AA Change: H612L
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: 99.0%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,982,439 (GRCm39) |
M1T |
probably null |
Het |
Abhd2 |
T |
A |
7: 78,975,194 (GRCm39) |
M128K |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,317,298 (GRCm39) |
T1333A |
possibly damaging |
Het |
Alg8 |
A |
G |
7: 97,040,131 (GRCm39) |
T438A |
probably benign |
Het |
Ccn3 |
G |
T |
15: 54,609,734 (GRCm39) |
S78I |
possibly damaging |
Het |
Cebpa |
A |
G |
7: 34,819,867 (GRCm39) |
I342V |
possibly damaging |
Het |
Chd9 |
T |
C |
8: 91,778,326 (GRCm39) |
M2779T |
probably damaging |
Het |
Cnot3 |
C |
A |
7: 3,661,221 (GRCm39) |
P577T |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,649,556 (GRCm39) |
D755G |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,685,347 (GRCm39) |
V1443A |
unknown |
Het |
Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,619,430 (GRCm39) |
D1031G |
probably damaging |
Het |
Gabrr2 |
A |
G |
4: 33,081,410 (GRCm39) |
T149A |
probably damaging |
Het |
Gm3667 |
T |
C |
14: 18,269,663 (GRCm39) |
N156D |
probably benign |
Het |
Hpcal1 |
T |
A |
12: 17,841,171 (GRCm39) |
L183Q |
probably damaging |
Het |
Ilf2 |
G |
T |
3: 90,394,777 (GRCm39) |
E342* |
probably null |
Het |
Ints13 |
A |
G |
6: 146,452,264 (GRCm39) |
S652P |
probably damaging |
Het |
Kansl2 |
C |
A |
15: 98,422,499 (GRCm39) |
E356D |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,768,201 (GRCm39) |
E448G |
probably null |
Het |
Mmp14 |
A |
G |
14: 54,673,707 (GRCm39) |
I124V |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,354,747 (GRCm39) |
D1008E |
probably benign |
Het |
Muc16 |
A |
C |
9: 18,554,767 (GRCm39) |
V3842G |
unknown |
Het |
Myo9b |
A |
T |
8: 71,807,405 (GRCm39) |
I1614F |
probably benign |
Het |
Nipa1 |
A |
T |
7: 55,629,547 (GRCm39) |
C189S |
probably damaging |
Het |
Ntn4 |
T |
C |
10: 93,480,335 (GRCm39) |
|
probably benign |
Het |
Or12k5 |
A |
G |
2: 36,894,972 (GRCm39) |
I218T |
probably benign |
Het |
Or2t29 |
A |
G |
11: 58,433,624 (GRCm39) |
L239P |
probably damaging |
Het |
Or3a4 |
A |
C |
11: 73,944,982 (GRCm39) |
L201R |
probably damaging |
Het |
Or4x13 |
A |
T |
2: 90,231,395 (GRCm39) |
Y130F |
probably damaging |
Het |
Or8g17 |
T |
G |
9: 38,930,349 (GRCm39) |
I163L |
probably benign |
Het |
Pank1 |
T |
A |
19: 34,791,096 (GRCm39) |
H528L |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,589,131 (GRCm39) |
L1698* |
probably null |
Het |
Park7 |
A |
G |
4: 150,988,341 (GRCm39) |
S85P |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 79,122,276 (GRCm39) |
E30G |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,160,523 (GRCm39) |
F676L |
probably damaging |
Het |
Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scd4 |
G |
T |
19: 44,329,687 (GRCm39) |
M219I |
probably benign |
Het |
Slfn5 |
T |
A |
11: 82,847,613 (GRCm39) |
I166N |
probably benign |
Het |
Smim22 |
A |
T |
16: 4,826,089 (GRCm39) |
D85V |
probably damaging |
Het |
Socs2 |
T |
C |
10: 95,250,812 (GRCm39) |
E7G |
probably benign |
Het |
Thumpd2 |
T |
C |
17: 81,334,157 (GRCm39) |
E477G |
probably benign |
Het |
Tlr12 |
C |
T |
4: 128,510,483 (GRCm39) |
G589D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,595,199 (GRCm39) |
I20317K |
probably damaging |
Het |
Ttyh2 |
A |
G |
11: 114,599,690 (GRCm39) |
|
probably null |
Het |
Ugt2a3 |
T |
A |
5: 87,475,050 (GRCm39) |
D398V |
probably damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,650,589 (GRCm39) |
M101L |
|
Het |
Vmn2r93 |
A |
T |
17: 18,545,954 (GRCm39) |
R609* |
probably null |
Het |
Zfp473 |
C |
T |
7: 44,381,916 (GRCm39) |
E806K |
probably damaging |
Het |
Zfp93 |
T |
C |
7: 23,974,999 (GRCm39) |
L328P |
probably 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 |
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'- ATCCGATTTCTGGTAAGGGTAC -3'
(R):5'- CAACAGCTGTACAACTGGCTC -3'
Sequencing Primer
(F):5'- CATGCTCTAAATTGACCTTCGAGTGG -3'
(R):5'- AGCTGTACAACTGGCTCTTCAAATTC -3'
|
Posted On |
2020-09-15 |