Incidental Mutation 'R5056:Fam184a'
| ID |
390855 |
| 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 |
042646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R5056 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53550670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 80
(L80I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
[ENSMUST00000218682]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020003
AA Change: L697I
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: L697I
| 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: L641I
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: L641I
| 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: ENSMUST00000168949
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171807
AA Change: L293I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: L293I
| 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 |
probably damaging
Transcript: ENSMUST00000218682
AA Change: L80I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0777 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.2%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
A |
8: 117,698,421 (GRCm39) |
K229* |
probably null |
Het |
| Adora2a |
T |
A |
10: 75,161,992 (GRCm39) |
S44T |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,682,860 (GRCm39) |
V459A |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,137,148 (GRCm39) |
V31A |
probably benign |
Het |
| Asic2 |
T |
A |
11: 80,862,429 (GRCm39) |
K189N |
possibly damaging |
Het |
| Bbs10 |
C |
T |
10: 111,136,401 (GRCm39) |
P505S |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,759 (GRCm39) |
I1578K |
probably benign |
Het |
| Cdh20 |
G |
T |
1: 104,881,722 (GRCm39) |
V396L |
probably benign |
Het |
| Cenpb |
C |
T |
2: 131,020,091 (GRCm39) |
|
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,301,659 (GRCm39) |
Y147F |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,552,772 (GRCm39) |
R606C |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,909,302 (GRCm39) |
T404A |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,467,636 (GRCm39) |
N1499S |
probably damaging |
Het |
| Dmkn |
T |
C |
7: 30,463,529 (GRCm39) |
S61P |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,003,990 (GRCm39) |
C872R |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,620,169 (GRCm39) |
Y1587H |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,183,199 (GRCm39) |
V73D |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,019,601 (GRCm39) |
Y692F |
possibly damaging |
Het |
| Foxj2 |
A |
G |
6: 122,810,833 (GRCm39) |
H271R |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,057,404 (GRCm39) |
T335A |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,071,734 (GRCm39) |
L622P |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kcnd3 |
T |
A |
3: 105,574,244 (GRCm39) |
|
probably benign |
Het |
| Klhdc8b |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
9: 108,326,184 (GRCm39) |
|
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrch4 |
C |
G |
5: 137,635,113 (GRCm39) |
N237K |
probably damaging |
Het |
| Lss |
T |
G |
10: 76,388,760 (GRCm39) |
|
probably null |
Het |
| Map6 |
T |
C |
7: 98,985,859 (GRCm39) |
F588L |
probably benign |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,219,391 (GRCm39) |
S352T |
probably benign |
Het |
| Mettl16 |
T |
A |
11: 74,707,766 (GRCm39) |
V320E |
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Nup188 |
T |
A |
2: 30,194,143 (GRCm39) |
D149E |
probably damaging |
Het |
| Ogfrl1 |
A |
G |
1: 23,418,130 (GRCm39) |
S83P |
probably damaging |
Het |
| Or52l1 |
T |
A |
7: 104,829,779 (GRCm39) |
H262L |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,748,480 (GRCm39) |
D70E |
probably damaging |
Het |
| Or8k36-ps1 |
T |
A |
2: 86,437,364 (GRCm39) |
I184F |
unknown |
Het |
| Or9m1 |
T |
C |
2: 87,733,915 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pafah1b3 |
C |
T |
7: 24,994,764 (GRCm39) |
R98Q |
probably damaging |
Het |
| Pde6b |
A |
T |
5: 108,571,357 (GRCm39) |
K437* |
probably null |
Het |
| Ppp1r12b |
A |
T |
1: 134,762,130 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Pramel34 |
T |
C |
5: 93,786,784 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,782,679 (GRCm39) |
Q104R |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,050,391 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,441 (GRCm39) |
P277L |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,102 (GRCm39) |
S258P |
probably benign |
Het |
| Sfrp1 |
T |
A |
8: 23,907,420 (GRCm39) |
F207I |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,087 (GRCm39) |
S160P |
probably damaging |
Het |
| Sil1 |
T |
C |
18: 35,402,755 (GRCm39) |
K263R |
probably benign |
Het |
| St14 |
A |
G |
9: 31,008,847 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 75,955,905 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,995,835 (GRCm39) |
S1013P |
probably benign |
Het |
| Tent5b |
C |
T |
4: 133,207,749 (GRCm39) |
R47W |
possibly damaging |
Het |
| Tmem67 |
T |
C |
4: 12,070,471 (GRCm39) |
S352G |
probably benign |
Het |
| Trib2 |
C |
A |
12: 15,843,795 (GRCm39) |
K282N |
possibly damaging |
Het |
| Trnau1ap |
T |
C |
4: 132,054,482 (GRCm39) |
|
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,054 (GRCm39) |
D952G |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,992,762 (GRCm39) |
N305D |
possibly damaging |
Het |
| Usp32 |
A |
G |
11: 84,917,621 (GRCm39) |
V802A |
probably benign |
Het |
| Vmn2r48 |
T |
A |
7: 9,676,251 (GRCm39) |
H410L |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,132,931 (GRCm39) |
N116S |
probably benign |
Het |
| Wif1 |
A |
T |
10: 120,935,684 (GRCm39) |
H333L |
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,928,162 (GRCm39) |
T416A |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,444 (GRCm39) |
C558S |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,409,734 (GRCm39) |
D116G |
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 |
|
|
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 |
|
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'- ACTTAGCAGACTGTTTCCTGTGAC -3'
(R):5'- CTTTTAGAAACCCTGTGAGCCC -3'
Sequencing Primer
(F):5'- AGACTGTTTCCTGTGACTATGTTTC -3'
(R):5'- CCCAGAGAGCATTTCCTGAGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation