Incidental Mutation 'IGL01448:Fam184a'
| ID |
84492 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam184a
|
| Ensembl Gene |
ENSMUSG00000019856 |
| Gene Name |
family with sequence similarity 184, member A |
| Synonyms |
3110012E06Rik, 4930589M24Rik, 4930438C08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
IGL01448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53575045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 188
(A188E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020003
AA Change: A188E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: A188E
| 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 |
probably benign
Transcript: ENSMUST00000163761
AA Change: A132E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: A132E
| 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 |
noncoding transcript
Transcript: ENSMUST00000170839
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171807
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
T |
2: 130,247,767 (GRCm39) |
E75D |
possibly damaging |
Het |
| 1700084J12Rik |
A |
G |
15: 33,405,779 (GRCm39) |
|
probably benign |
Het |
| 2610303G11Rik |
T |
A |
9: 98,068,762 (GRCm39) |
|
noncoding transcript |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,417 (GRCm39) |
D320G |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,433,672 (GRCm39) |
E34K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,654,881 (GRCm39) |
N3142K |
possibly damaging |
Het |
| Anapc7 |
G |
A |
5: 122,566,276 (GRCm39) |
A62T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,356,256 (GRCm39) |
P1152L |
probably benign |
Het |
| Cc2d2a |
C |
T |
5: 43,841,527 (GRCm39) |
T181I |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,300,555 (GRCm39) |
L2835P |
probably damaging |
Het |
| Ctns |
A |
T |
11: 73,079,548 (GRCm39) |
V99D |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,134 (GRCm39) |
R429G |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,441,132 (GRCm39) |
V218A |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,756,389 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
G |
T |
8: 14,128,853 (GRCm39) |
T29N |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,686 (GRCm39) |
E215G |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,810,032 (GRCm39) |
S413P |
probably damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,378,550 (GRCm39) |
S33P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,279,745 (GRCm39) |
|
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,542,437 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,875,770 (GRCm39) |
T1575A |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,513,890 (GRCm39) |
E32G |
probably damaging |
Het |
| Ints5 |
C |
T |
19: 8,872,851 (GRCm39) |
P270L |
possibly damaging |
Het |
| Itga7 |
G |
T |
10: 128,785,337 (GRCm39) |
E847* |
probably null |
Het |
| Kcns3 |
A |
C |
12: 11,141,644 (GRCm39) |
S352A |
possibly damaging |
Het |
| Kiz |
A |
G |
2: 146,705,721 (GRCm39) |
K94E |
probably benign |
Het |
| Lin7b |
C |
T |
7: 45,018,624 (GRCm39) |
V12M |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,570 (GRCm39) |
I1409N |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,777,161 (GRCm39) |
H407R |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,056,146 (GRCm39) |
T506A |
probably damaging |
Het |
| Or10p21 |
A |
G |
10: 128,847,729 (GRCm39) |
T192A |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,378 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,235 (GRCm39) |
Y152* |
probably null |
Het |
| Or6c69 |
A |
G |
10: 129,748,114 (GRCm39) |
I11T |
possibly damaging |
Het |
| Pclo |
A |
C |
5: 14,726,408 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
G |
A |
11: 3,927,979 (GRCm39) |
E544K |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,568,315 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,976,244 (GRCm39) |
M1521V |
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 79,011,269 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,245,403 (GRCm39) |
V735A |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,902 (GRCm39) |
S316P |
possibly damaging |
Het |
| Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,373 (GRCm39) |
R918S |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 34,963,627 (GRCm39) |
K227R |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,864,864 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,036,341 (GRCm39) |
I425V |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,607,262 (GRCm39) |
T231A |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tnks |
A |
G |
8: 35,307,136 (GRCm39) |
Y1138H |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,832,719 (GRCm39) |
I231F |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,473,142 (GRCm39) |
K189E |
possibly damaging |
Het |
| Zfp512b |
T |
C |
2: 181,229,578 (GRCm39) |
T625A |
possibly damaging |
Het |
| Zfp827 |
A |
T |
8: 79,787,362 (GRCm39) |
Q176L |
possibly 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 |
|
|
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 |
|
R6554:Fam184a
|
UTSW |
10 |
53,517,063 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation