Incidental Mutation 'R9470:Fam184b'
| ID |
715414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184b
|
| Ensembl Gene |
ENSMUSG00000015879 |
| Gene Name |
family with sequence similarity 184, member B |
| Synonyms |
9630031F12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
45687047-45796843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45741854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 126
(S126P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016023]
|
| AlphaFold |
Q0KK56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016023
AA Change: S126P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: S126P
| 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 |
0.1042 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
A |
4: 129,903,074 (GRCm39) |
L558Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,039,219 (GRCm39) |
D483G |
possibly damaging |
Het |
| Arid1a |
T |
C |
4: 133,413,057 (GRCm39) |
D994G |
unknown |
Het |
| Barx2 |
A |
T |
9: 31,770,044 (GRCm39) |
Y161* |
probably null |
Het |
| Bmp7 |
G |
T |
2: 172,711,960 (GRCm39) |
N421K |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,974,439 (GRCm39) |
C2292S |
probably damaging |
Het |
| Ces1c |
C |
T |
8: 93,830,746 (GRCm39) |
|
probably null |
Het |
| Clca3b |
T |
C |
3: 144,543,456 (GRCm39) |
T458A |
probably damaging |
Het |
| Cntnap5a |
T |
G |
1: 116,374,344 (GRCm39) |
V952G |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,888 (GRCm39) |
E85G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,026,777 (GRCm39) |
K1962E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,107,919 (GRCm39) |
V254A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,090,352 (GRCm39) |
I955F |
possibly damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,602,280 (GRCm39) |
D622E |
possibly damaging |
Het |
| Ggta1 |
T |
C |
2: 35,292,767 (GRCm39) |
Y180C |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,845 (GRCm39) |
V108A |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,409,660 (GRCm39) |
Y861C |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,904,518 (GRCm39) |
L799P |
probably damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,591,275 (GRCm39) |
P16S |
unknown |
Het |
| Nos1 |
T |
C |
5: 118,064,560 (GRCm39) |
L997P |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,269,829 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Nup50l |
T |
C |
6: 96,142,474 (GRCm39) |
H190R |
possibly damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52j3 |
G |
A |
7: 102,836,270 (GRCm39) |
R154H |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,673 (GRCm39) |
S190T |
probably damaging |
Het |
| Or5b113 |
A |
G |
19: 13,342,115 (GRCm39) |
N41S |
probably damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,461 (GRCm39) |
I30N |
probably benign |
Het |
| Paqr7 |
T |
C |
4: 134,234,914 (GRCm39) |
V257A |
probably benign |
Het |
| Parp8 |
A |
T |
13: 117,031,292 (GRCm39) |
S473R |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,076 (GRCm39) |
T61S |
probably benign |
Het |
| Pde11a |
G |
A |
2: 75,821,612 (GRCm39) |
A889V |
probably benign |
Het |
| Potefam3e |
T |
A |
8: 19,797,809 (GRCm39) |
S292T |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,827,345 (GRCm39) |
T18A |
probably benign |
Het |
| Sertad1 |
T |
C |
7: 27,188,871 (GRCm39) |
L64P |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Tmem82 |
T |
A |
4: 141,342,341 (GRCm39) |
D287V |
probably damaging |
Het |
| Traf1 |
A |
G |
2: 34,833,974 (GRCm39) |
F381L |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ubap2 |
G |
A |
4: 41,195,434 (GRCm39) |
A1068V |
possibly damaging |
Het |
| Vmn1r47 |
T |
G |
6: 89,999,777 (GRCm39) |
M303R |
probably null |
Het |
| Zc3h12d |
T |
C |
10: 7,743,321 (GRCm39) |
S364P |
possibly damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,344,784 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Zpbp |
A |
T |
11: 11,358,541 (GRCm39) |
I242N |
probably damaging |
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 |
|
|
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 |
|
R9649:Fam184b
|
UTSW |
5 |
45,796,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCCGGTCTCTGGCTAGAC -3'
(R):5'- TCAGCGTGGAGTCAATACG -3'
Sequencing Primer
(F):5'- TAGACTCGGCTGTGGCATC -3'
(R):5'- GAGTCAATACGGGAAGCCCAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation