Incidental Mutation 'R0477:Fam184a'
| ID |
41859 |
| 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 |
038677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R0477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53531175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 733
(T733M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
[ENSMUST00000218659]
[ENSMUST00000218682]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: T733M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: T733M
| 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 damaging
Transcript: ENSMUST00000163761
AA Change: T677M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: T677M
| 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: ENSMUST00000165986
|
| SMART Domains |
Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
| 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: ENSMUST00000171807
AA Change: T329M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: T329M
| 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 |
silent
Transcript: ENSMUST00000218659
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218682
AA Change: T130M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1696 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
| Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
| Ap1b1 |
G |
T |
11: 4,981,787 (GRCm39) |
C538F |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
| C9 |
A |
T |
15: 6,487,664 (GRCm39) |
E43D |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
| Ces2a |
A |
G |
8: 105,464,169 (GRCm39) |
E267G |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
| Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
| Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
| Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
| Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
| Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
| Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
| Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
| Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
| Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
C |
A |
13: 65,338,720 (GRCm39) |
R639L |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
| Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
| Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,079,507 (GRCm39) |
I6T |
probably benign |
Het |
| Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
| Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
| Supv3l1 |
G |
T |
10: 62,266,364 (GRCm39) |
T604N |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
| Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
| Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATCCAAGGCCAGCTATCATCC -3'
(R):5'- TGAGCCGAGTTTCAAATGTAGAGCG -3'
Sequencing Primer
(F):5'- AAGGCCAGCTATCATCCATCTTTTAG -3'
(R):5'- GTAAGCCGGTCATTTCATCAGAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation