Incidental Mutation 'R5731:Fam184b'
| ID |
452750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184b
|
| Ensembl Gene |
ENSMUSG00000015879 |
| Gene Name |
family with sequence similarity 184, member B |
| Synonyms |
9630031F12Rik |
| MMRRC Submission |
043192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5731 (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 45710471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 553
(G553E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016023]
|
| AlphaFold |
Q0KK56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016023
AA Change: G553E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: G553E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199642
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,353 (GRCm39) |
I58V |
unknown |
Het |
| Abca4 |
G |
T |
3: 121,926,242 (GRCm39) |
G18V |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,374 (GRCm39) |
V34A |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,104,163 (GRCm39) |
N202I |
possibly damaging |
Het |
| C1qtnf6 |
A |
T |
15: 78,411,514 (GRCm39) |
M54K |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,089,352 (GRCm39) |
|
probably null |
Het |
| Cd177 |
A |
G |
7: 24,443,846 (GRCm39) |
C751R |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,375,923 (GRCm39) |
I657V |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,095,310 (GRCm39) |
T61A |
probably benign |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,614,962 (GRCm39) |
H328R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,008,149 (GRCm39) |
|
probably null |
Het |
| Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gprin2 |
C |
A |
14: 33,917,397 (GRCm39) |
L124F |
probably damaging |
Het |
| Hacd2 |
T |
A |
16: 34,922,374 (GRCm39) |
Y188N |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,726 (GRCm39) |
T950A |
probably benign |
Het |
| Kit |
T |
A |
5: 75,815,075 (GRCm39) |
I933N |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,589 (GRCm39) |
Y411N |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,966,500 (GRCm39) |
S1313P |
probably damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,354 (GRCm39) |
K131R |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,248 (GRCm39) |
L170P |
probably damaging |
Het |
| Or5d16 |
T |
A |
2: 87,773,771 (GRCm39) |
H67L |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,717,325 (GRCm39) |
D382G |
probably damaging |
Het |
| Pcdh1 |
A |
C |
18: 38,331,651 (GRCm39) |
F590V |
probably damaging |
Het |
| Pcdha5 |
G |
A |
18: 37,093,820 (GRCm39) |
V110M |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,284 (GRCm39) |
N261D |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,703,347 (GRCm39) |
T362A |
unknown |
Het |
| Prlr |
A |
G |
15: 10,314,221 (GRCm39) |
T9A |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,478,289 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,471,917 (GRCm39) |
D4515V |
probably damaging |
Het |
| Svop |
T |
C |
5: 114,198,124 (GRCm39) |
K149E |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,157 (GRCm39) |
V56A |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,738,013 (GRCm39) |
I93L |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,111 (GRCm39) |
R19* |
probably null |
Het |
| Vmn2r28 |
G |
T |
7: 5,491,668 (GRCm39) |
T193K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,802,661 (GRCm39) |
D654G |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,701 (GRCm39) |
Q1167L |
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 |
|
|
R1215:Fam184b
|
UTSW |
5 |
45,741,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- AAGGAGTCTACTCAGCCCTG -3'
(R):5'- AAACTTACAACTTAAGGCAGGTTGC -3'
Sequencing Primer
(F):5'- AGTCTACTCAGCCCTGGACCTAC -3'
(R):5'- ACAACTTAAGGCAGGTTGCTTTTTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation