Incidental Mutation 'R7253:Fam184a'
| ID |
564091 |
| 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 |
045314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R7253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53574901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 236
(T236K)
|
| 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: T236K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: T236K
| 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: T180K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: T180K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,391 (GRCm39) |
H199R |
not run |
Het |
| Ak9 |
A |
G |
10: 41,308,480 (GRCm39) |
N1804S |
unknown |
Het |
| Akr1c21 |
C |
A |
13: 4,627,139 (GRCm39) |
T147N |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,123,216 (GRCm39) |
T30A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,236,724 (GRCm39) |
D447G |
probably damaging |
Het |
| Amigo2 |
T |
C |
15: 97,142,956 (GRCm39) |
I489V |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,350 (GRCm39) |
Y322N |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,389,576 (GRCm39) |
W583L |
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,916,084 (GRCm39) |
E430G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,034,104 (GRCm39) |
Y539C |
possibly damaging |
Het |
| C87436 |
T |
A |
6: 86,442,790 (GRCm39) |
L454Q |
probably damaging |
Het |
| Casp4 |
T |
G |
9: 5,324,868 (GRCm39) |
Y227D |
probably benign |
Het |
| Ccn6 |
T |
G |
10: 39,031,031 (GRCm39) |
N164T |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,083,555 (GRCm39) |
|
probably null |
Het |
| Chrna10 |
A |
G |
7: 101,761,293 (GRCm39) |
C433R |
probably benign |
Het |
| Cntln |
A |
T |
4: 85,036,710 (GRCm39) |
N214I |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,848,922 (GRCm39) |
V367I |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,318,255 (GRCm39) |
I222T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,239,945 (GRCm39) |
|
probably null |
Het |
| Dcaf7 |
C |
A |
11: 105,938,669 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,602,164 (GRCm39) |
|
probably null |
Het |
| Glyctk |
T |
C |
9: 106,032,661 (GRCm39) |
T451A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,452,944 (GRCm39) |
K484E |
possibly damaging |
Het |
| Hspbap1 |
G |
T |
16: 35,637,600 (GRCm39) |
C243F |
unknown |
Het |
| Hspg2 |
A |
C |
4: 137,247,257 (GRCm39) |
N1160T |
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,728 (GRCm39) |
L48F |
probably benign |
Het |
| Jazf1 |
C |
A |
6: 52,754,637 (GRCm39) |
E146D |
probably benign |
Het |
| Katnb1 |
C |
T |
8: 95,822,125 (GRCm39) |
Q284* |
probably null |
Het |
| Kctd18 |
G |
T |
1: 58,001,115 (GRCm39) |
Y213* |
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,664,213 (GRCm39) |
S23P |
possibly damaging |
Het |
| Krt88 |
T |
C |
15: 101,348,392 (GRCm39) |
L26P |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,522 (GRCm39) |
V623I |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,490,955 (GRCm39) |
M159L |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,242,326 (GRCm39) |
|
probably null |
Het |
| Mier1 |
G |
A |
4: 102,996,544 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
T |
C |
7: 78,431,207 (GRCm39) |
D117G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,760 (GRCm39) |
S20G |
probably benign |
Het |
| Mup10 |
A |
T |
4: 60,538,077 (GRCm39) |
M4K |
unknown |
Het |
| Nlrp5 |
C |
T |
7: 23,116,816 (GRCm39) |
A180V |
possibly damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,176,001 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,913,767 (GRCm39) |
T2A |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,744 (GRCm39) |
F251L |
probably damaging |
Het |
| Or2t45 |
T |
C |
11: 58,669,822 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,969 (GRCm39) |
T36A |
possibly damaging |
Het |
| Or51aa2 |
C |
T |
7: 103,187,995 (GRCm39) |
A149T |
probably benign |
Het |
| Or5af2 |
T |
A |
11: 58,708,366 (GRCm39) |
C177* |
probably null |
Het |
| Or5ak22 |
A |
G |
2: 85,229,983 (GRCm39) |
I298T |
probably benign |
Het |
| Otud1 |
C |
A |
2: 19,663,742 (GRCm39) |
D290E |
probably damaging |
Het |
| Pank4 |
A |
G |
4: 155,055,377 (GRCm39) |
N249S |
probably benign |
Het |
| Pccb |
G |
T |
9: 100,913,966 (GRCm39) |
S84R |
probably benign |
Het |
| Pemt |
A |
T |
11: 59,862,081 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,970,856 (GRCm39) |
I634T |
possibly damaging |
Het |
| Pias2 |
T |
G |
18: 77,207,811 (GRCm39) |
I232R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,686,952 (GRCm39) |
E620G |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,692,725 (GRCm39) |
V425E |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,713,150 (GRCm39) |
E1758K |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,444,134 (GRCm39) |
Q1490L |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,132,368 (GRCm39) |
M296I |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,317,644 (GRCm39) |
P464L |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,589,733 (GRCm39) |
E258G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Senp8 |
T |
C |
9: 59,644,478 (GRCm39) |
N226S |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,828,901 (GRCm39) |
R114C |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,958 (GRCm39) |
T195A |
probably benign |
Het |
| Slpi |
G |
T |
2: 164,197,467 (GRCm39) |
Q51K |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,570,256 (GRCm39) |
V753A |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 56,074,537 (GRCm39) |
M225I |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,208,770 (GRCm39) |
G18C |
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,558 (GRCm39) |
V57I |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,177,313 (GRCm39) |
P336T |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,633 (GRCm39) |
I264V |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,343,826 (GRCm39) |
E2022D |
probably benign |
Het |
| Zfp975 |
A |
G |
7: 42,311,036 (GRCm39) |
*526R |
probably null |
Het |
| Zp1 |
A |
G |
19: 10,893,933 (GRCm39) |
L424P |
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 |
|
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 |
|
|
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'- ATCTGCAGCTCTGTCTTCAG -3'
(R):5'- GCAGCTCCAGGTTCAGTTTG -3'
Sequencing Primer
(F):5'- GTAAAATGGCTTCTTGTCCCTGGAAC -3'
(R):5'- GCTCCAGGTTCAGTTTGAAAATGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation