Incidental Mutation 'R4685:Fam184a'
| ID |
353615 |
| 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 |
041936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R4685 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53574596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 282
(N282D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020003
AA Change: N338D
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: N338D
| 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: N282D
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: N282D
| 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 |
|
| Meta Mutation Damage Score |
0.0860 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (71/73) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,057,185 (GRCm39) |
D104G |
probably damaging |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
| Adcy2 |
T |
C |
13: 68,876,024 (GRCm39) |
R493G |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,609,287 (GRCm39) |
I874T |
probably benign |
Het |
| Ano2 |
G |
T |
6: 125,957,087 (GRCm39) |
E619* |
probably null |
Het |
| Apob |
A |
G |
12: 8,056,456 (GRCm39) |
K1613R |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,006,963 (GRCm39) |
F476Y |
probably damaging |
Het |
| Bmf |
G |
A |
2: 118,377,283 (GRCm39) |
A74V |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,467,139 (GRCm38) |
E925G |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,557,682 (GRCm39) |
D181G |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,173,434 (GRCm39) |
C387S |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,374,410 (GRCm39) |
V974A |
possibly damaging |
Het |
| Cplx3 |
T |
A |
9: 57,516,483 (GRCm39) |
I407F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,250,488 (GRCm39) |
F1703S |
probably damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,793 (GRCm39) |
D821E |
probably benign |
Het |
| Ecel1 |
G |
T |
1: 87,080,668 (GRCm39) |
|
probably null |
Het |
| Edn1 |
A |
T |
13: 42,458,729 (GRCm39) |
|
probably null |
Het |
| Egfr |
G |
A |
11: 16,808,980 (GRCm39) |
C58Y |
probably damaging |
Het |
| Fhit |
T |
A |
14: 9,870,091 (GRCm38) |
Q63L |
probably damaging |
Het |
| Gabarapl2 |
T |
C |
8: 112,669,150 (GRCm39) |
V36A |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,424,842 (GRCm39) |
V151A |
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,650,217 (GRCm39) |
S210P |
probably damaging |
Het |
| Gpat4 |
TAGAAGA |
TAGA |
8: 23,672,865 (GRCm39) |
|
probably benign |
Het |
| H2-M10.4 |
G |
A |
17: 36,772,688 (GRCm39) |
A98V |
probably benign |
Het |
| Hhat |
C |
A |
1: 192,277,362 (GRCm39) |
G366C |
probably damaging |
Het |
| Hydin |
C |
A |
8: 111,189,154 (GRCm39) |
A1186E |
probably damaging |
Het |
| Itgb2 |
T |
A |
10: 77,385,937 (GRCm39) |
|
probably null |
Het |
| Kank1 |
C |
T |
19: 25,387,398 (GRCm39) |
A329V |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,708,675 (GRCm39) |
S1070T |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,078,277 (GRCm39) |
Y101H |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,858,140 (GRCm39) |
K679R |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,989,853 (GRCm39) |
D45V |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,233 (GRCm39) |
Y743N |
probably damaging |
Het |
| Nox4 |
C |
G |
7: 86,946,716 (GRCm39) |
I137M |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,813,665 (GRCm39) |
|
probably null |
Het |
| Ostf1 |
A |
T |
19: 18,558,652 (GRCm39) |
D210E |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,675 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,606,578 (GRCm39) |
T211A |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,496 (GRCm39) |
S393P |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,703,359 (GRCm39) |
T42A |
probably damaging |
Het |
| Plxna4 |
C |
A |
6: 32,142,779 (GRCm39) |
G1559W |
probably damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,308 (GRCm39) |
|
probably null |
Het |
| Prex1 |
C |
T |
2: 166,480,252 (GRCm39) |
V163M |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,500,307 (GRCm39) |
T93A |
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,824,459 (GRCm39) |
V81A |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,613,280 (GRCm39) |
|
probably benign |
Het |
| Rest |
C |
T |
5: 77,423,090 (GRCm39) |
P298L |
possibly damaging |
Het |
| Rhobtb3 |
G |
A |
13: 76,027,051 (GRCm39) |
R441* |
probably null |
Het |
| Rims4 |
T |
A |
2: 163,706,914 (GRCm39) |
K155* |
probably null |
Het |
| Rps6kb1 |
C |
T |
11: 86,410,713 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,707,532 (GRCm39) |
D2835G |
probably damaging |
Het |
| Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
| Sell |
A |
T |
1: 163,893,829 (GRCm39) |
I175F |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,855,211 (GRCm39) |
D295G |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,428,096 (GRCm39) |
V228D |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,469,828 (GRCm39) |
S4500G |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,678 (GRCm39) |
C232S |
possibly damaging |
Het |
| Terf1 |
A |
G |
1: 15,889,185 (GRCm39) |
I176V |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,209,854 (GRCm39) |
A428T |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,499,711 (GRCm39) |
N321S |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,435,761 (GRCm39) |
I323T |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,288,233 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,195,800 (GRCm39) |
I128L |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,162 (GRCm39) |
F663L |
possibly damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,950 (GRCm39) |
Y278F |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,442,117 (GRCm39) |
|
probably benign |
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 |
|
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'- AAAATTCTCCTGAACACGGGG -3'
(R):5'- AGCTCTTCACAGCCGAAAGC -3'
Sequencing Primer
(F):5'- CTGGCTATCCTGAACAGCTGAAATG -3'
(R):5'- AAAGCTTGCAGGCCAGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation