Incidental Mutation 'R7541:Fam184b'
ID |
583883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam184b
|
Ensembl Gene |
ENSMUSG00000015879 |
Gene Name |
family with sequence similarity 184, member B |
Synonyms |
9630031F12Rik |
MMRRC Submission |
045613-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7541 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
45687047-45796843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45699574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 614
(L614P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016023]
|
AlphaFold |
Q0KK56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016023
AA Change: L614P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000016023 Gene: ENSMUSG00000015879 AA Change: L614P
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
96% (51/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
G |
A |
2: 155,416,610 (GRCm39) |
|
probably null |
Het |
Adamts10 |
G |
A |
17: 33,750,590 (GRCm39) |
R210H |
probably benign |
Het |
Als2 |
T |
C |
1: 59,206,775 (GRCm39) |
|
probably null |
Het |
Aplp2 |
A |
T |
9: 31,063,652 (GRCm39) |
M652K |
possibly damaging |
Het |
Atrn |
A |
G |
2: 130,803,491 (GRCm39) |
I560M |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,782,434 (GRCm39) |
D602G |
possibly damaging |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Cd200l2 |
T |
A |
16: 45,348,855 (GRCm39) |
T106S |
possibly damaging |
Het |
Cdh4 |
A |
G |
2: 179,086,603 (GRCm39) |
|
probably null |
Het |
Clasp1 |
T |
A |
1: 118,470,727 (GRCm39) |
|
probably null |
Het |
Col6a6 |
A |
G |
9: 105,644,523 (GRCm39) |
I1255T |
probably damaging |
Het |
Comp |
G |
T |
8: 70,834,000 (GRCm39) |
V672L |
probably damaging |
Het |
Dbnl |
T |
G |
11: 5,745,486 (GRCm39) |
D122E |
probably damaging |
Het |
Dgkz |
G |
A |
2: 91,773,020 (GRCm39) |
R346C |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
Elmo3 |
T |
C |
8: 106,033,346 (GRCm39) |
I121T |
probably damaging |
Het |
Fbh1 |
T |
C |
2: 11,754,348 (GRCm39) |
R797G |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,843,681 (GRCm39) |
C856* |
probably null |
Het |
Gata6 |
A |
G |
18: 11,059,108 (GRCm39) |
T392A |
probably damaging |
Het |
Gm29609 |
A |
G |
5: 31,311,576 (GRCm39) |
F855S |
probably benign |
Het |
Gm3424 |
T |
C |
14: 17,337,195 (GRCm39) |
N88D |
possibly damaging |
Het |
Gnas |
T |
A |
2: 174,139,892 (GRCm39) |
S80T |
unknown |
Het |
Hsd17b14 |
C |
A |
7: 45,215,570 (GRCm39) |
P190Q |
probably damaging |
Het |
Iqch |
C |
T |
9: 63,352,803 (GRCm39) |
V955I |
possibly damaging |
Het |
Kcnt2 |
T |
C |
1: 140,304,122 (GRCm39) |
V164A |
probably benign |
Het |
Krt87 |
A |
G |
15: 101,336,515 (GRCm39) |
L46P |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,984,748 (GRCm39) |
M237V |
probably benign |
Het |
Lmbr1l |
A |
T |
15: 98,807,267 (GRCm39) |
|
probably null |
Het |
Lrrc49 |
T |
C |
9: 60,517,686 (GRCm39) |
I408V |
probably damaging |
Het |
Luc7l3 |
T |
C |
11: 94,186,791 (GRCm39) |
S365G |
unknown |
Het |
Marchf2 |
A |
T |
17: 33,922,032 (GRCm39) |
C109* |
probably null |
Het |
Metrnl |
T |
A |
11: 121,606,796 (GRCm39) |
C284S |
probably damaging |
Het |
Mmachc |
G |
A |
4: 116,563,082 (GRCm39) |
T91I |
probably benign |
Het |
Mrps7 |
T |
G |
11: 115,497,696 (GRCm39) |
M187R |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,978,336 (GRCm39) |
E845G |
probably damaging |
Het |
Nscme3l |
G |
A |
19: 5,553,439 (GRCm39) |
P114L |
probably benign |
Het |
Ooep |
T |
A |
9: 78,285,347 (GRCm39) |
T90S |
possibly damaging |
Het |
Or13c25 |
A |
T |
4: 52,911,376 (GRCm39) |
D139E |
probably benign |
Het |
Or2y1g |
T |
A |
11: 49,171,160 (GRCm39) |
F62I |
probably damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,624,662 (GRCm39) |
D664V |
probably damaging |
Het |
Pigz |
T |
C |
16: 31,763,949 (GRCm39) |
S336P |
probably benign |
Het |
Pou2f2 |
A |
T |
7: 24,815,553 (GRCm39) |
D71E |
probably benign |
Het |
Reep6 |
G |
T |
10: 80,171,033 (GRCm39) |
R303L |
possibly damaging |
Het |
Rmdn2 |
A |
T |
17: 79,935,297 (GRCm39) |
S137C |
|
Het |
Rnf220 |
A |
T |
4: 117,347,127 (GRCm39) |
L95H |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
A |
T |
2: 32,708,517 (GRCm39) |
S83T |
probably damaging |
Het |
Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
Trappc11 |
T |
C |
8: 47,958,617 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
T |
2: 76,621,645 (GRCm39) |
D15598E |
probably damaging |
Het |
Vav2 |
T |
A |
2: 27,165,014 (GRCm39) |
R645W |
probably damaging |
Het |
Vmn1r169 |
T |
A |
7: 23,277,412 (GRCm39) |
V268D |
probably benign |
Het |
Zp2 |
A |
T |
7: 119,735,279 (GRCm39) |
C365S |
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 |
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'- TGGACTCATGTTTGCAACACATG -3'
(R):5'- GCAGTTTCATGCCTCAGTGC -3'
Sequencing Primer
(F):5'- TGACCCTATGAGGTAGAGATCATTAG -3'
(R):5'- ATGCCTCAGTGCCTTCTGC -3'
|
Posted On |
2019-10-17 |