Incidental Mutation 'R1215:Fam184b'
| ID |
99568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184b
|
| Ensembl Gene |
ENSMUSG00000015879 |
| Gene Name |
family with sequence similarity 184, member B |
| Synonyms |
9630031F12Rik |
| MMRRC Submission |
039284-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1215 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
45687047-45796843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45741520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 237
(R237H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016023]
|
| AlphaFold |
Q0KK56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016023
AA Change: R237H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: R237H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,116 (GRCm39) |
R123H |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cntfr |
C |
A |
4: 41,662,064 (GRCm39) |
W226L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
C |
T |
7: 26,014,226 (GRCm39) |
P468S |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
| Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
| Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
| Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
| Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,395 (GRCm39) |
W546* |
probably null |
Het |
| Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
| Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,453,688 (GRCm39) |
W229R |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,946 (GRCm39) |
D57E |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
probably benign |
Het |
|
| Other mutations in Fam184b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Fam184b
|
APN |
5 |
45,697,091 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00781:Fam184b
|
APN |
5 |
45,712,534 (GRCm39) |
splice site |
probably null |
|
|
IGL01636:Fam184b
|
APN |
5 |
45,741,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02008:Fam184b
|
APN |
5 |
45,690,165 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02123:Fam184b
|
APN |
5 |
45,796,493 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02177:Fam184b
|
APN |
5 |
45,690,157 (GRCm39) |
nonsense |
probably null |
|
|
IGL02192:Fam184b
|
APN |
5 |
45,695,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02478:Fam184b
|
APN |
5 |
45,695,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03368:Fam184b
|
APN |
5 |
45,689,166 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0003:Fam184b
|
UTSW |
5 |
45,712,536 (GRCm39) |
splice site |
probably benign |
|
|
R0129:Fam184b
|
UTSW |
5 |
45,690,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Fam184b
|
UTSW |
5 |
45,741,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Fam184b
|
UTSW |
5 |
45,741,932 (GRCm39) |
missense |
probably benign |
|
|
R1374:Fam184b
|
UTSW |
5 |
45,712,485 (GRCm39) |
missense |
probably benign |
|
|
R1466:Fam184b
|
UTSW |
5 |
45,737,851 (GRCm39) |
splice site |
probably benign |
|
|
R1773:Fam184b
|
UTSW |
5 |
45,741,676 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1865:Fam184b
|
UTSW |
5 |
45,689,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3615:Fam184b
|
UTSW |
5 |
45,740,157 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3616:Fam184b
|
UTSW |
5 |
45,740,157 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4180:Fam184b
|
UTSW |
5 |
45,697,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4375:Fam184b
|
UTSW |
5 |
45,699,685 (GRCm39) |
missense |
probably benign |
|
|
R4674:Fam184b
|
UTSW |
5 |
45,740,230 (GRCm39) |
nonsense |
probably null |
|
|
R4942:Fam184b
|
UTSW |
5 |
45,730,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5021:Fam184b
|
UTSW |
5 |
45,730,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5450:Fam184b
|
UTSW |
5 |
45,697,143 (GRCm39) |
missense |
probably benign |
|
|
R5731:Fam184b
|
UTSW |
5 |
45,710,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5858:Fam184b
|
UTSW |
5 |
45,796,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6032:Fam184b
|
UTSW |
5 |
45,740,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6032:Fam184b
|
UTSW |
5 |
45,740,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6060:Fam184b
|
UTSW |
5 |
45,710,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6088:Fam184b
|
UTSW |
5 |
45,741,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Fam184b
|
UTSW |
5 |
45,694,995 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6932:Fam184b
|
UTSW |
5 |
45,690,243 (GRCm39) |
splice site |
probably null |
|
|
R6956:Fam184b
|
UTSW |
5 |
45,688,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6965:Fam184b
|
UTSW |
5 |
45,712,477 (GRCm39) |
missense |
probably benign |
|
|
R7229:Fam184b
|
UTSW |
5 |
45,741,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Fam184b
|
UTSW |
5 |
45,699,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7429:Fam184b
|
UTSW |
5 |
45,698,230 (GRCm39) |
missense |
probably benign |
|
|
R7522:Fam184b
|
UTSW |
5 |
45,688,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Fam184b
|
UTSW |
5 |
45,699,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7942:Fam184b
|
UTSW |
5 |
45,741,595 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8172:Fam184b
|
UTSW |
5 |
45,741,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9470:Fam184b
|
UTSW |
5 |
45,741,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Fam184b
|
UTSW |
5 |
45,796,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCAACTTTGCCTATTATCCCC -3'
(R):5'- CGCATTCAGACCCTGGAAAATGCC -3'
Sequencing Primer
(F):5'- GTTCTTTCAACTTCTGGGCATAC -3'
(R):5'- TGCTGAACGAGTCCTGATAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation