Incidental Mutation 'R7449:Fam184a'
ID |
577573 |
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 |
045524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R7449 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53574730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 293
(E293G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
AlphaFold |
E9PW83 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: E293G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020003 Gene: ENSMUSG00000019856 AA Change: E293G
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: E237G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127400 Gene: ENSMUSG00000019856 AA Change: E237G
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: 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,035,131 (GRCm39) |
Y306N |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,647,192 (GRCm39) |
V3116D |
probably damaging |
Het |
Adss1 |
A |
T |
12: 112,600,585 (GRCm39) |
T185S |
probably damaging |
Het |
Ago2 |
G |
A |
15: 73,018,348 (GRCm39) |
P30L |
probably damaging |
Het |
Arb2a |
A |
G |
13: 77,907,561 (GRCm39) |
I41V |
probably damaging |
Het |
Atp5pf |
C |
T |
16: 84,628,251 (GRCm39) |
V44M |
probably benign |
Het |
Atp7b |
T |
A |
8: 22,501,865 (GRCm39) |
I833F |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,009,336 (GRCm39) |
N4869K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,579,310 (GRCm39) |
D1796N |
|
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,762,647 (GRCm39) |
I289T |
probably benign |
Het |
Crybg1 |
C |
A |
10: 43,880,515 (GRCm39) |
E224D |
probably benign |
Het |
Dysf |
T |
C |
6: 84,114,362 (GRCm39) |
L1217P |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,647,469 (GRCm39) |
N339K |
probably damaging |
Het |
Eva1c |
T |
C |
16: 90,673,081 (GRCm39) |
|
probably null |
Het |
Folh1 |
G |
A |
7: 86,380,956 (GRCm39) |
P506S |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,415,997 (GRCm39) |
K210N |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,844,494 (GRCm39) |
V6D |
possibly damaging |
Het |
Ghitm |
C |
A |
14: 36,853,538 (GRCm39) |
G101C |
probably damaging |
Het |
Gimap5 |
T |
A |
6: 48,729,838 (GRCm39) |
V136D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,654,345 (GRCm39) |
G535D |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,956,450 (GRCm39) |
S314P |
unknown |
Het |
Hnrnpdl |
A |
G |
5: 100,185,014 (GRCm39) |
I279T |
probably damaging |
Het |
Idi2l |
T |
A |
13: 8,993,340 (GRCm39) |
H51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,366,345 (GRCm39) |
S923P |
probably damaging |
Het |
Krt39 |
C |
A |
11: 99,408,887 (GRCm39) |
C303F |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,545,482 (GRCm39) |
S427P |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,503,487 (GRCm39) |
R277W |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,005,375 (GRCm39) |
L226P |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,557,285 (GRCm39) |
L125P |
probably damaging |
Het |
Nid1 |
T |
G |
13: 13,656,636 (GRCm39) |
V589G |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,116,951 (GRCm39) |
F225C |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,376,940 (GRCm39) |
A322T |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,115,063 (GRCm39) |
H148R |
probably benign |
Het |
Or52a5b |
G |
T |
7: 103,417,026 (GRCm39) |
Q193K |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,478,162 (GRCm39) |
T173S |
probably benign |
Het |
Otogl |
A |
G |
10: 107,639,524 (GRCm39) |
C1363R |
probably damaging |
Het |
Ovol1 |
T |
A |
19: 5,603,625 (GRCm39) |
D92V |
probably benign |
Het |
Pigt |
T |
C |
2: 164,344,419 (GRCm39) |
L356P |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,612,996 (GRCm39) |
Q434R |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,126,326 (GRCm39) |
F1344L |
probably benign |
Het |
Polr1has |
A |
G |
17: 37,275,275 (GRCm39) |
D16G |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,922,452 (GRCm39) |
L405P |
probably damaging |
Het |
Qtrt2 |
T |
A |
16: 43,701,395 (GRCm39) |
H55L |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Raver2 |
T |
A |
4: 100,959,860 (GRCm39) |
H113Q |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,589,765 (GRCm39) |
D760G |
unknown |
Het |
Rhobtb3 |
C |
T |
13: 76,058,860 (GRCm39) |
V313M |
probably benign |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,376,578 (GRCm39) |
Q135R |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,561,235 (GRCm39) |
S584G |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,256,091 (GRCm39) |
T904S |
probably benign |
Het |
Slc4a10 |
T |
C |
2: 62,134,290 (GRCm39) |
V1002A |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,554,992 (GRCm39) |
I55T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,523,420 (GRCm39) |
D1654V |
possibly damaging |
Het |
Tgfb1 |
G |
A |
7: 25,404,263 (GRCm39) |
V357M |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,335 (GRCm39) |
P2383S |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,858,723 (GRCm39) |
M382L |
probably benign |
Het |
Trrap |
A |
G |
5: 144,788,019 (GRCm39) |
Y3516C |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,721,067 (GRCm39) |
Y494* |
probably null |
Het |
Ubr2 |
C |
T |
17: 47,275,714 (GRCm39) |
E811K |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,172,280 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,869 (GRCm39) |
M785T |
probably damaging |
Het |
Vmn2r99 |
G |
A |
17: 19,599,407 (GRCm39) |
D364N |
probably benign |
Het |
Vps45 |
C |
A |
3: 95,954,448 (GRCm39) |
|
probably null |
Het |
Wdr25 |
A |
C |
12: 108,992,367 (GRCm39) |
H426P |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,310 (GRCm39) |
W136R |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,191,232 (GRCm39) |
I343L |
possibly damaging |
Het |
Zscan4b |
T |
C |
7: 10,637,985 (GRCm39) |
Q53R |
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 |
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 |
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'- GAAGAAACCCTAGATGGCCC -3'
(R):5'- GTTGAAGTCACAGCAGAACCAC -3'
Sequencing Primer
(F):5'- TAGATGGCCCACCTCTCAC -3'
(R):5'- GAGGCCTTGAACAACACGGTC -3'
|
Posted On |
2019-10-07 |