Incidental Mutation 'R9361:Fam83b'
| ID |
708705 |
| 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: 0.087)
|
| Stock # |
R9361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76397336-76474398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76400076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 342
(I342M)
|
| 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: I342M
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: I342M
| 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: I342M
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: I342M
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
C |
T |
8: 121,361,060 (GRCm39) |
A12T |
unknown |
Het |
| Aasdh |
T |
A |
5: 77,030,225 (GRCm39) |
T792S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,805,824 (GRCm39) |
L49Q |
probably damaging |
Het |
| Adcy3 |
G |
T |
12: 4,259,366 (GRCm39) |
R881L |
possibly damaging |
Het |
| Alox15 |
T |
G |
11: 70,241,679 (GRCm39) |
K67N |
probably damaging |
Het |
| Amotl1 |
C |
T |
9: 14,504,677 (GRCm39) |
R177Q |
probably benign |
Het |
| Ankrd34c |
T |
A |
9: 89,612,183 (GRCm39) |
I53F |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,658 (GRCm39) |
F932Y |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,506,515 (GRCm39) |
M281V |
probably benign |
Het |
| Ccdc33 |
C |
T |
9: 58,024,908 (GRCm39) |
C106Y |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,726,521 (GRCm39) |
I3250N |
probably damaging |
Het |
| Ces1g |
A |
T |
8: 94,061,646 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
A |
8: 105,564,039 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,479,654 (GRCm39) |
D1033V |
probably damaging |
Het |
| Cntln |
G |
T |
4: 84,968,151 (GRCm39) |
R790I |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,803,877 (GRCm39) |
V1656A |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,126,991 (GRCm39) |
S907P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,068,259 (GRCm39) |
D610V |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,896,524 (GRCm39) |
T4291I |
probably benign |
Het |
| Eya4 |
C |
A |
10: 22,985,766 (GRCm39) |
G579W |
probably damaging |
Het |
| Fhdc1 |
A |
C |
3: 84,356,140 (GRCm39) |
C435G |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
T |
G |
5: 96,924,557 (GRCm39) |
L3666R |
probably damaging |
Het |
| Gm21560 |
T |
A |
14: 6,218,262 (GRCm38) |
H72L |
possibly damaging |
Het |
| Gtsf2 |
C |
T |
15: 103,348,066 (GRCm39) |
W148* |
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,714,429 (GRCm39) |
K466E |
possibly damaging |
Het |
| Higd2a |
T |
A |
13: 54,738,120 (GRCm39) |
D14E |
probably benign |
Het |
| Hlcs |
C |
T |
16: 93,939,799 (GRCm39) |
V513M |
probably benign |
Het |
| Ido1 |
T |
C |
8: 25,079,601 (GRCm39) |
T148A |
probably benign |
Het |
| Ighv1-5 |
T |
A |
12: 114,476,985 (GRCm39) |
T106S |
probably damaging |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,090 (GRCm39) |
T95A |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
G |
13: 9,199,937 (GRCm39) |
F278V |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,635,076 (GRCm39) |
R225H |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,252 (GRCm39) |
Y378H |
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,341,775 (GRCm39) |
C42S |
probably damaging |
Het |
| Or2y10 |
A |
G |
11: 49,455,303 (GRCm39) |
K185R |
probably damaging |
Het |
| Pdlim2 |
T |
G |
14: 70,402,190 (GRCm39) |
T309P |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prodh |
C |
T |
16: 17,898,834 (GRCm39) |
C207Y |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,213,229 (GRCm39) |
L168Q |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,228,132 (GRCm39) |
S393A |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,492 (GRCm39) |
Q189R |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,001,021 (GRCm39) |
L372S |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 62,037,144 (GRCm39) |
E699D |
probably benign |
Het |
| Speer1m |
C |
T |
5: 11,970,646 (GRCm39) |
T105M |
|
Het |
| Syt6 |
C |
A |
3: 103,482,679 (GRCm39) |
|
probably benign |
Het |
| Tent5b |
G |
T |
4: 133,213,461 (GRCm39) |
A111S |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,557,246 (GRCm39) |
E969G |
possibly damaging |
Het |
| Tie1 |
A |
C |
4: 118,336,829 (GRCm39) |
H632Q |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,417 (GRCm39) |
W372R |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,606 (GRCm39) |
V33A |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,575,886 (GRCm39) |
N324K |
probably damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,652,822 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
C |
6: 116,239,433 (GRCm39) |
*1335Q |
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,081,063 (GRCm39) |
T445I |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 74,122,737 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,624,364 (GRCm39) |
L244P |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,690,887 (GRCm39) |
I103F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,427,999 (GRCm39) |
T243S |
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 |
|
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 |
|
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'- AGCGTCCAGGAGCATTATTG -3'
(R):5'- AGGTCCTCTGTCCCAAGTTC -3'
Sequencing Primer
(F):5'- CTCTGTTGAGCAGCAGGTAC -3'
(R):5'- CCAAGTTCTTTTGCTCAGGAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation