Incidental Mutation 'R6554:Fam184a'
ID |
521862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam184a
|
Ensembl Gene |
ENSMUSG00000019856 |
Gene Name |
family with sequence similarity 184, member A |
Synonyms |
3110012E06Rik, 4930589M24Rik, 4930438C08Rik |
MMRRC Submission |
044679-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R6554 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53517063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1007
(D1007G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000164393]
[ENSMUST00000169866]
[ENSMUST00000171807]
[ENSMUST00000217939]
[ENSMUST00000218659]
[ENSMUST00000218682]
|
AlphaFold |
E9PW83 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020003
AA Change: D1007G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020003 Gene: ENSMUSG00000019856 AA Change: D1007G
Domain | Start | End | E-Value | Type |
Pfam:FAM184
|
57 |
267 |
1.5e-84 |
PFAM |
low complexity region
|
436 |
449 |
N/A |
INTRINSIC |
Blast:HisKA
|
533 |
598 |
4e-6 |
BLAST |
coiled coil region
|
656 |
788 |
N/A |
INTRINSIC |
internal_repeat_2
|
795 |
864 |
2.49e-6 |
PROSPERO |
internal_repeat_1
|
800 |
866 |
4.75e-7 |
PROSPERO |
coiled coil region
|
960 |
983 |
N/A |
INTRINSIC |
low complexity region
|
1101 |
1113 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163761
AA Change: D902G
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127400 Gene: ENSMUSG00000019856 AA Change: D902G
Domain | Start | End | E-Value | Type |
coiled coil region
|
4 |
88 |
N/A |
INTRINSIC |
internal_repeat_1
|
99 |
167 |
6.86e-8 |
PROSPERO |
internal_repeat_2
|
105 |
173 |
4e-7 |
PROSPERO |
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
Blast:HisKA
|
480 |
542 |
5e-6 |
BLAST |
coiled coil region
|
600 |
732 |
N/A |
INTRINSIC |
internal_repeat_2
|
739 |
808 |
4e-7 |
PROSPERO |
internal_repeat_1
|
744 |
810 |
6.86e-8 |
PROSPERO |
low complexity region
|
906 |
916 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164393
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165986
AA Change: D259G
|
SMART Domains |
Protein: ENSMUSP00000128132 Gene: ENSMUSG00000019856 AA Change: D259G
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
40 |
N/A |
INTRINSIC |
coiled coil region
|
102 |
166 |
N/A |
INTRINSIC |
coiled coil region
|
212 |
235 |
N/A |
INTRINSIC |
low complexity region
|
354 |
366 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168949
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169866
AA Change: D65G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128426 Gene: ENSMUSG00000019856 AA Change: D65G
Domain | Start | End | E-Value | Type |
coiled coil region
|
18 |
41 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171807
AA Change: D554G
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130315 Gene: ENSMUSG00000019856 AA Change: D554G
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
Pfam:DUF3090
|
64 |
159 |
5.9e-8 |
PFAM |
low complexity region
|
303 |
343 |
N/A |
INTRINSIC |
low complexity region
|
358 |
364 |
N/A |
INTRINSIC |
internal_repeat_1
|
383 |
410 |
4.35e-5 |
PROSPERO |
internal_repeat_1
|
424 |
451 |
4.35e-5 |
PROSPERO |
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217939
AA Change: D115G
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218659
AA Change: D230G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218682
AA Change: D404G
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218780
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,618,246 (GRCm39) |
R180C |
probably damaging |
Het |
B3galt9 |
C |
A |
2: 34,729,276 (GRCm39) |
S358R |
probably benign |
Het |
Ces1b |
C |
A |
8: 93,791,619 (GRCm39) |
V327L |
probably benign |
Het |
Cps1 |
C |
T |
1: 67,213,628 (GRCm39) |
R787* |
probably null |
Het |
Dmrt2 |
C |
T |
19: 25,655,312 (GRCm39) |
P304S |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,557,346 (GRCm39) |
D429G |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,616,282 (GRCm39) |
M3111K |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,037,699 (GRCm39) |
V3393A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Flt3 |
A |
C |
5: 147,312,545 (GRCm39) |
L132W |
probably damaging |
Het |
Gm14322 |
G |
A |
2: 177,410,220 (GRCm39) |
S60N |
possibly damaging |
Het |
Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
Kcnj16 |
T |
A |
11: 110,916,131 (GRCm39) |
Y264* |
probably null |
Het |
Klkb1 |
T |
A |
8: 45,726,591 (GRCm39) |
I471F |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,663,914 (GRCm39) |
T207A |
probably damaging |
Het |
Mfsd4b5 |
T |
A |
10: 39,862,428 (GRCm39) |
T32S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,430,645 (GRCm39) |
D234G |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,454,279 (GRCm39) |
T218A |
possibly damaging |
Het |
Nsd3 |
A |
T |
8: 26,152,891 (GRCm39) |
E410D |
probably damaging |
Het |
Or4g17 |
C |
T |
2: 111,209,504 (GRCm39) |
S53F |
possibly damaging |
Het |
Or5aq7 |
A |
T |
2: 86,937,970 (GRCm39) |
S254T |
probably benign |
Het |
Reln |
T |
C |
5: 22,101,838 (GRCm39) |
Y3364C |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Serpina1d |
A |
T |
12: 103,731,062 (GRCm39) |
H305Q |
probably benign |
Het |
Skic8 |
A |
T |
9: 54,634,929 (GRCm39) |
I88N |
probably damaging |
Het |
Skint8 |
G |
A |
4: 111,784,413 (GRCm39) |
C13Y |
probably benign |
Het |
Smc4 |
G |
A |
3: 68,936,848 (GRCm39) |
V863I |
probably benign |
Het |
Spdl1 |
T |
G |
11: 34,713,397 (GRCm39) |
N224T |
possibly damaging |
Het |
Sprr1b |
T |
G |
3: 92,344,420 (GRCm39) |
Q152P |
possibly damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,405 (GRCm39) |
N192S |
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,445,903 (GRCm39) |
N96S |
probably damaging |
Het |
Tbccd1 |
A |
T |
16: 22,640,874 (GRCm39) |
I501K |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Unk |
T |
C |
11: 115,942,285 (GRCm39) |
I293T |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,926,139 (GRCm39) |
E548G |
probably damaging |
Het |
Wdr97 |
A |
G |
15: 76,239,178 (GRCm39) |
D85G |
possibly damaging |
Het |
Zeb2 |
A |
T |
2: 44,887,524 (GRCm39) |
V496E |
probably damaging |
Het |
|
Other mutations in Fam184a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01380:Fam184a
|
APN |
10 |
53,570,782 (GRCm39) |
splice site |
probably benign |
|
IGL01448:Fam184a
|
APN |
10 |
53,575,045 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02052:Fam184a
|
APN |
10 |
53,573,216 (GRCm39) |
unclassified |
probably benign |
|
IGL02086:Fam184a
|
APN |
10 |
53,575,351 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02163:Fam184a
|
APN |
10 |
53,523,230 (GRCm39) |
splice site |
probably null |
|
IGL02247:Fam184a
|
APN |
10 |
53,551,256 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02316:Fam184a
|
APN |
10 |
53,514,335 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02493:Fam184a
|
APN |
10 |
53,570,789 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02629:Fam184a
|
APN |
10 |
53,574,907 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03006:Fam184a
|
APN |
10 |
53,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
2107:Fam184a
|
UTSW |
10 |
53,517,153 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4802001:Fam184a
|
UTSW |
10 |
53,560,450 (GRCm39) |
nonsense |
probably null |
|
R0427:Fam184a
|
UTSW |
10 |
53,566,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Fam184a
|
UTSW |
10 |
53,531,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Fam184a
|
UTSW |
10 |
53,574,975 (GRCm39) |
missense |
probably benign |
0.03 |
R1322:Fam184a
|
UTSW |
10 |
53,528,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R1422:Fam184a
|
UTSW |
10 |
53,551,304 (GRCm39) |
missense |
probably benign |
0.29 |
R1474:Fam184a
|
UTSW |
10 |
53,511,461 (GRCm39) |
missense |
probably damaging |
0.99 |
R1752:Fam184a
|
UTSW |
10 |
53,550,666 (GRCm39) |
missense |
probably benign |
0.02 |
R1831:Fam184a
|
UTSW |
10 |
53,523,180 (GRCm39) |
missense |
probably damaging |
0.97 |
R2186:Fam184a
|
UTSW |
10 |
53,514,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R2202:Fam184a
|
UTSW |
10 |
53,528,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2203:Fam184a
|
UTSW |
10 |
53,528,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2221:Fam184a
|
UTSW |
10 |
53,531,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:Fam184a
|
UTSW |
10 |
53,531,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Fam184a
|
UTSW |
10 |
53,523,666 (GRCm39) |
critical splice donor site |
probably null |
|
R2444:Fam184a
|
UTSW |
10 |
53,517,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R3876:Fam184a
|
UTSW |
10 |
53,575,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3932:Fam184a
|
UTSW |
10 |
53,575,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R4685:Fam184a
|
UTSW |
10 |
53,574,596 (GRCm39) |
missense |
probably benign |
0.39 |
R4953:Fam184a
|
UTSW |
10 |
53,574,901 (GRCm39) |
missense |
probably benign |
0.00 |
R5056:Fam184a
|
UTSW |
10 |
53,550,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R5420:Fam184a
|
UTSW |
10 |
53,509,753 (GRCm39) |
missense |
probably damaging |
0.99 |
R6159:Fam184a
|
UTSW |
10 |
53,574,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R6714:Fam184a
|
UTSW |
10 |
53,574,979 (GRCm39) |
missense |
probably benign |
0.00 |
R6966:Fam184a
|
UTSW |
10 |
53,531,095 (GRCm39) |
missense |
probably benign |
0.34 |
R7034:Fam184a
|
UTSW |
10 |
53,570,910 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7237:Fam184a
|
UTSW |
10 |
53,510,489 (GRCm39) |
unclassified |
probably benign |
|
R7253:Fam184a
|
UTSW |
10 |
53,574,901 (GRCm39) |
missense |
probably benign |
0.00 |
R7359:Fam184a
|
UTSW |
10 |
53,575,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Fam184a
|
UTSW |
10 |
53,574,730 (GRCm39) |
missense |
probably damaging |
0.98 |
R7479:Fam184a
|
UTSW |
10 |
53,531,110 (GRCm39) |
missense |
probably benign |
0.01 |
R7725:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R7726:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R7881:Fam184a
|
UTSW |
10 |
53,574,589 (GRCm39) |
missense |
probably benign |
0.00 |
R7886:Fam184a
|
UTSW |
10 |
53,551,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R7897:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R7937:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R7943:Fam184a
|
UTSW |
10 |
53,523,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R7970:Fam184a
|
UTSW |
10 |
53,575,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R7972:Fam184a
|
UTSW |
10 |
53,514,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R8049:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
R9070:Fam184a
|
UTSW |
10 |
53,514,373 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9134:Fam184a
|
UTSW |
10 |
53,573,344 (GRCm39) |
missense |
probably damaging |
0.99 |
R9373:Fam184a
|
UTSW |
10 |
53,566,115 (GRCm39) |
missense |
probably benign |
|
R9614:Fam184a
|
UTSW |
10 |
53,517,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Fam184a
|
UTSW |
10 |
53,573,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R9706:Fam184a
|
UTSW |
10 |
53,575,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R9787:Fam184a
|
UTSW |
10 |
53,626,864 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1177:Fam184a
|
UTSW |
10 |
53,575,182 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAAAATTCCCTTATTCTGATGCC -3'
(R):5'- TGCAAGGCTTACCGTAAATCTGC -3'
Sequencing Primer
(F):5'- GCTTAATAAACGTGCCCA -3'
(R):5'- CCGTAAATCTGCGTGTGTTTAAC -3'
|
Posted On |
2018-06-06 |