Incidental Mutation 'R3876:Fam184a'
ID |
276849 |
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 |
041606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R3876 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53575157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 151
(V151I)
|
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: V151I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020003 Gene: ENSMUSG00000019856 AA Change: V151I
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: V95I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127400 Gene: ENSMUSG00000019856 AA Change: V95I
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 |
0.1658 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
G |
A |
14: 54,828,857 (GRCm39) |
R215* |
probably null |
Het |
Brinp2 |
C |
A |
1: 158,074,416 (GRCm39) |
L568F |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,043,616 (GRCm39) |
Y316C |
probably damaging |
Het |
Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
Cfap69 |
G |
T |
5: 5,634,645 (GRCm39) |
|
probably benign |
Het |
Chrnb4 |
T |
C |
9: 54,951,182 (GRCm39) |
E27G |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,430 (GRCm39) |
V64A |
possibly damaging |
Het |
Crygs |
A |
G |
16: 22,625,262 (GRCm39) |
Y60H |
probably damaging |
Het |
Dpp10 |
T |
A |
1: 123,281,216 (GRCm39) |
Q611L |
probably damaging |
Het |
Entpd1 |
T |
C |
19: 40,725,264 (GRCm39) |
L450P |
probably damaging |
Het |
Eogt |
G |
A |
6: 97,097,151 (GRCm39) |
S317L |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,657,376 (GRCm39) |
S584T |
probably benign |
Het |
Fbxo43 |
A |
G |
15: 36,152,258 (GRCm39) |
V517A |
probably damaging |
Het |
Flii |
T |
C |
11: 60,610,698 (GRCm39) |
T533A |
possibly damaging |
Het |
Frmpd1 |
T |
G |
4: 45,284,093 (GRCm39) |
H971Q |
probably benign |
Het |
Gata3 |
A |
T |
2: 9,867,954 (GRCm39) |
N333K |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,815,513 (GRCm39) |
S1525P |
probably damaging |
Het |
Ibtk |
A |
G |
9: 85,600,479 (GRCm39) |
I816T |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt34 |
T |
C |
11: 99,931,791 (GRCm39) |
T143A |
probably benign |
Het |
Lipn |
G |
T |
19: 34,046,828 (GRCm39) |
M43I |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
Mios |
G |
A |
6: 8,233,189 (GRCm39) |
R779Q |
probably damaging |
Het |
Mme |
A |
T |
3: 63,269,480 (GRCm39) |
|
probably benign |
Het |
Ncstn |
A |
G |
1: 171,897,640 (GRCm39) |
S418P |
probably benign |
Het |
Oprk1 |
T |
A |
1: 5,672,884 (GRCm39) |
C340* |
probably null |
Het |
Or10d1c |
T |
A |
9: 38,894,166 (GRCm39) |
Y58F |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,739,952 (GRCm39) |
T262A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,238,967 (GRCm39) |
V69A |
possibly damaging |
Het |
Or6c210 |
C |
T |
10: 129,496,143 (GRCm39) |
P156L |
probably benign |
Het |
Or6z7 |
G |
A |
7: 6,484,131 (GRCm39) |
A8V |
probably benign |
Het |
Pald1 |
T |
A |
10: 61,183,266 (GRCm39) |
N323Y |
probably damaging |
Het |
Pcdhac1 |
C |
A |
18: 37,224,945 (GRCm39) |
A586E |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,614,897 (GRCm39) |
A185T |
probably benign |
Het |
Pik3r1 |
G |
A |
13: 101,821,465 (GRCm39) |
H430Y |
probably benign |
Het |
Polr3b |
G |
A |
10: 84,556,382 (GRCm39) |
|
probably null |
Het |
Prl8a6 |
A |
T |
13: 27,617,015 (GRCm39) |
L225* |
probably null |
Het |
Psme4 |
T |
C |
11: 30,806,068 (GRCm39) |
S89P |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,248,113 (GRCm39) |
T250I |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,016,528 (GRCm39) |
K72* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,603,045 (GRCm39) |
I4514F |
probably damaging |
Het |
Septin3 |
A |
T |
15: 82,170,002 (GRCm39) |
D32V |
probably damaging |
Het |
Sfrp2 |
C |
T |
3: 83,674,335 (GRCm39) |
P163S |
possibly damaging |
Het |
Spata31 |
A |
G |
13: 65,068,745 (GRCm39) |
T298A |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,683,369 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
T |
10: 5,002,345 (GRCm39) |
M282K |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,561,847 (GRCm39) |
|
probably null |
Het |
Tlr11 |
G |
A |
14: 50,600,611 (GRCm39) |
V866I |
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,056,020 (GRCm39) |
|
probably null |
Het |
Zfp512b |
AG |
AGG |
2: 181,230,556 (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 |
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 |
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'- TGACTTCAACAGCTCTTGGACTTC -3'
(R):5'- TTCAGGCCCTCAAAGATGCC -3'
Sequencing Primer
(F):5'- AACAGCTCTTGGACTTCGAGCC -3'
(R):5'- GCCCTCAAAGATGCCCATGAAG -3'
|
Posted On |
2015-04-06 |