Incidental Mutation 'R3615:Fam184b'
| ID |
268423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184b
|
| Ensembl Gene |
ENSMUSG00000015879 |
| Gene Name |
family with sequence similarity 184, member B |
| Synonyms |
9630031F12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45529705-45639614 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45582815 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 343
(V343A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016023]
|
| AlphaFold |
Q0KK56 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016023
AA Change: V343A
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: V343A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM184
|
50 |
248 |
7.7e-28 |
PFAM |
|
coiled coil region
|
284 |
337 |
N/A |
INTRINSIC |
|
coiled coil region
|
387 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
525 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
620 |
N/A |
INTRINSIC |
|
coiled coil region
|
686 |
775 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
A |
G |
4: 42,971,864 (GRCm38) |
N399S |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,558,294 (GRCm38) |
T818A |
probably benign |
Het |
| Aasdh |
A |
G |
5: 76,888,782 (GRCm38) |
V304A |
probably benign |
Het |
| Angptl3 |
G |
A |
4: 99,034,465 (GRCm38) |
A248T |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,324,565 (GRCm38) |
C112S |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 114,136,887 (GRCm38) |
I549N |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,911,550 (GRCm38) |
D161N |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,942 (GRCm38) |
V821A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,920,035 (GRCm38) |
P46S |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,315,148 (GRCm38) |
L247P |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 66,834,370 (GRCm38) |
H107L |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,937,063 (GRCm38) |
L869S |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,920,095 (GRCm38) |
Y160C |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,504,447 (GRCm38) |
N1197Y |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,312,989 (GRCm38) |
I944V |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,743,760 (GRCm38) |
Y105* |
probably null |
Het |
| Fiz1 |
A |
G |
7: 5,008,172 (GRCm38) |
L449P |
probably benign |
Het |
| Foxi2 |
T |
A |
7: 135,410,451 (GRCm38) |
C23S |
possibly damaging |
Het |
| Gdf2 |
G |
A |
14: 33,944,957 (GRCm38) |
R212Q |
probably damaging |
Het |
| Gm5105 |
C |
A |
3: 138,049,688 (GRCm38) |
A46S |
unknown |
Het |
| Gm597 |
T |
C |
1: 28,776,575 (GRCm38) |
D792G |
probably benign |
Het |
| Grik5 |
C |
T |
7: 25,022,571 (GRCm38) |
A581T |
probably benign |
Het |
| Gse1 |
C |
G |
8: 120,572,742 (GRCm38) |
|
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 (GRCm38) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 (GRCm38) |
M1L |
possibly damaging |
Het |
| Krt25 |
A |
C |
11: 99,317,298 (GRCm38) |
V368G |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,033,287 (GRCm38) |
V269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,251,150 (GRCm38) |
K417E |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,865,914 (GRCm38) |
M75T |
probably benign |
Het |
| Nlrp10 |
A |
G |
7: 108,924,476 (GRCm38) |
F599S |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,240,575 (GRCm38) |
M436L |
probably benign |
Het |
| Olfr142 |
T |
C |
2: 90,252,409 (GRCm38) |
E193G |
possibly damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,690,232 (GRCm38) |
S57F |
probably damaging |
Het |
| Pla2g2e |
G |
A |
4: 138,880,374 (GRCm38) |
V22I |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,717,270 (GRCm38) |
E202G |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 23,872,831 (GRCm38) |
T258A |
probably benign |
Het |
| Prss34 |
A |
G |
17: 25,298,846 (GRCm38) |
E65G |
probably benign |
Het |
| Psap |
A |
G |
10: 60,294,603 (GRCm38) |
N149S |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,237,883 (GRCm38) |
A275T |
probably benign |
Het |
| Sem1 |
A |
G |
6: 6,578,520 (GRCm38) |
L12P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 110,844,523 (GRCm38) |
Y4H |
probably damaging |
Het |
| Sh3bp4 |
G |
T |
1: 89,137,705 (GRCm38) |
R7L |
probably damaging |
Het |
| Slc16a1 |
T |
A |
3: 104,653,570 (GRCm38) |
L397Q |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,336,451 (GRCm38) |
S10G |
possibly damaging |
Het |
| Tas2r102 |
C |
T |
6: 132,762,818 (GRCm38) |
Q230* |
probably null |
Het |
| Tdo2 |
A |
G |
3: 81,975,428 (GRCm38) |
Y13H |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 111,918,313 (GRCm38) |
R187H |
possibly damaging |
Het |
| Tmem30b |
A |
G |
12: 73,545,579 (GRCm38) |
M254T |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 64,243,570 (GRCm38) |
G1057R |
probably damaging |
Het |
| Tusc3 |
A |
T |
8: 39,164,838 (GRCm38) |
K347N |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,276,759 (GRCm38) |
|
probably null |
Het |
| Vash2 |
T |
C |
1: 190,970,419 (GRCm38) |
Y117C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,489,866 (GRCm38) |
I235T |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,793,939 (GRCm38) |
T420A |
probably benign |
Het |
|
| Other mutations in Fam184b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Fam184b
|
APN |
5 |
45,539,749 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL00781:Fam184b
|
APN |
5 |
45,555,192 (GRCm38) |
splice site |
probably null |
|
|
IGL01636:Fam184b
|
APN |
5 |
45,584,295 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02008:Fam184b
|
APN |
5 |
45,532,823 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02123:Fam184b
|
APN |
5 |
45,639,151 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02177:Fam184b
|
APN |
5 |
45,532,815 (GRCm38) |
nonsense |
probably null |
|
|
IGL02192:Fam184b
|
APN |
5 |
45,537,720 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02478:Fam184b
|
APN |
5 |
45,537,697 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03368:Fam184b
|
APN |
5 |
45,531,824 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0003:Fam184b
|
UTSW |
5 |
45,555,194 (GRCm38) |
splice site |
probably benign |
|
|
R0129:Fam184b
|
UTSW |
5 |
45,532,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0420:Fam184b
|
UTSW |
5 |
45,584,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0647:Fam184b
|
UTSW |
5 |
45,584,590 (GRCm38) |
missense |
probably benign |
|
|
R1215:Fam184b
|
UTSW |
5 |
45,584,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1374:Fam184b
|
UTSW |
5 |
45,555,143 (GRCm38) |
missense |
probably benign |
|
|
R1466:Fam184b
|
UTSW |
5 |
45,580,509 (GRCm38) |
splice site |
probably benign |
|
|
R1773:Fam184b
|
UTSW |
5 |
45,584,334 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1865:Fam184b
|
UTSW |
5 |
45,531,889 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3616:Fam184b
|
UTSW |
5 |
45,582,815 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4180:Fam184b
|
UTSW |
5 |
45,539,764 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4375:Fam184b
|
UTSW |
5 |
45,542,343 (GRCm38) |
missense |
probably benign |
|
|
R4674:Fam184b
|
UTSW |
5 |
45,582,888 (GRCm38) |
nonsense |
probably null |
|
|
R4942:Fam184b
|
UTSW |
5 |
45,573,307 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5021:Fam184b
|
UTSW |
5 |
45,573,262 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5450:Fam184b
|
UTSW |
5 |
45,539,801 (GRCm38) |
missense |
probably benign |
|
|
R5731:Fam184b
|
UTSW |
5 |
45,553,129 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5858:Fam184b
|
UTSW |
5 |
45,639,119 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6032:Fam184b
|
UTSW |
5 |
45,582,896 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6032:Fam184b
|
UTSW |
5 |
45,582,896 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6060:Fam184b
|
UTSW |
5 |
45,553,147 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6088:Fam184b
|
UTSW |
5 |
45,584,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6416:Fam184b
|
UTSW |
5 |
45,537,653 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6932:Fam184b
|
UTSW |
5 |
45,532,901 (GRCm38) |
splice site |
probably null |
|
|
R6956:Fam184b
|
UTSW |
5 |
45,530,757 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6965:Fam184b
|
UTSW |
5 |
45,555,135 (GRCm38) |
missense |
probably benign |
|
|
R7229:Fam184b
|
UTSW |
5 |
45,584,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7303:Fam184b
|
UTSW |
5 |
45,542,226 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7429:Fam184b
|
UTSW |
5 |
45,540,888 (GRCm38) |
missense |
probably benign |
|
|
R7522:Fam184b
|
UTSW |
5 |
45,530,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7541:Fam184b
|
UTSW |
5 |
45,542,232 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7942:Fam184b
|
UTSW |
5 |
45,584,253 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8172:Fam184b
|
UTSW |
5 |
45,584,367 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9470:Fam184b
|
UTSW |
5 |
45,584,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9649:Fam184b
|
UTSW |
5 |
45,639,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCATCATCGTCTAGGACACC -3'
(R):5'- TTCTAGAGCCTCATGACCCCTG -3'
Sequencing Primer
(F):5'- ATCGTCTAGGACACCTTTGTTTTAC -3'
(R):5'- GAGCCTCATGACCCCTGCTATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation