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 |
4930438C08Rik, 4930589M24Rik, 3110012E06Rik |
| MMRRC Submission |
041606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R3876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53633145-53751123 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53699061 bp (GRCm38)
|
| 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: 54,591,400 (GRCm38) |
R215* |
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,246,846 (GRCm38) |
L568F |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,152,790 (GRCm38) |
Y316C |
probably damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,289,977 (GRCm38) |
|
probably null |
Het |
| Cfap69 |
G |
T |
5: 5,584,645 (GRCm38) |
|
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 55,043,898 (GRCm38) |
E27G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,268,644 (GRCm38) |
V64A |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,806,512 (GRCm38) |
Y60H |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,353,487 (GRCm38) |
Q611L |
probably damaging |
Het |
| Entpd1 |
T |
C |
19: 40,736,820 (GRCm38) |
L450P |
probably damaging |
Het |
| Eogt |
G |
A |
6: 97,120,190 (GRCm38) |
S317L |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,572,919 (GRCm38) |
S584T |
probably benign |
Het |
| Fbxo43 |
A |
G |
15: 36,152,112 (GRCm38) |
V517A |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,719,872 (GRCm38) |
T533A |
possibly damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,284,093 (GRCm38) |
H971Q |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,863,143 (GRCm38) |
N333K |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,768,730 (GRCm38) |
S1525P |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,718,426 (GRCm38) |
I816T |
probably benign |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Krt34 |
T |
C |
11: 100,040,965 (GRCm38) |
T143A |
probably benign |
Het |
| Lipn |
G |
T |
19: 34,069,428 (GRCm38) |
M43I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,445,194 (GRCm38) |
C779R |
probably damaging |
Het |
| Mios |
G |
A |
6: 8,233,189 (GRCm38) |
R779Q |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,362,059 (GRCm38) |
|
probably benign |
Het |
| Ncstn |
A |
G |
1: 172,070,073 (GRCm38) |
S418P |
probably benign |
Het |
| Olfr1209 |
T |
C |
2: 88,909,608 (GRCm38) |
T262A |
possibly damaging |
Het |
| Olfr1285 |
T |
C |
2: 111,408,622 (GRCm38) |
V69A |
possibly damaging |
Het |
| Olfr5 |
G |
A |
7: 6,481,132 (GRCm38) |
A8V |
probably benign |
Het |
| Olfr800 |
C |
T |
10: 129,660,274 (GRCm38) |
P156L |
probably benign |
Het |
| Olfr934 |
T |
A |
9: 38,982,870 (GRCm38) |
Y58F |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,602,661 (GRCm38) |
C340* |
probably null |
Het |
| Pald1 |
T |
A |
10: 61,347,487 (GRCm38) |
N323Y |
probably damaging |
Het |
| Pcdhac1 |
C |
A |
18: 37,091,892 (GRCm38) |
A586E |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 125,888,158 (GRCm38) |
A185T |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,684,957 (GRCm38) |
H430Y |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,720,518 (GRCm38) |
|
probably null |
Het |
| Prl8a6 |
A |
T |
13: 27,433,032 (GRCm38) |
L225* |
probably null |
Het |
| Psme4 |
T |
C |
11: 30,856,068 (GRCm38) |
S89P |
probably damaging |
Het |
| Pygl |
G |
A |
12: 70,201,339 (GRCm38) |
T250I |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,140,790 (GRCm38) |
K72* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,588,159 (GRCm38) |
I4514F |
probably damaging |
Het |
| Sept3 |
A |
T |
15: 82,285,801 (GRCm38) |
D32V |
probably damaging |
Het |
| Sfrp2 |
C |
T |
3: 83,767,028 (GRCm38) |
P163S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 64,920,931 (GRCm38) |
T298A |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,633,369 (GRCm38) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,052,345 (GRCm38) |
M282K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,671,020 (GRCm38) |
|
probably null |
Het |
| Tlr11 |
G |
A |
14: 50,363,154 (GRCm38) |
V866I |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,220,186 (GRCm38) |
|
probably null |
Het |
| Zfp512b |
AG |
AGG |
2: 181,588,763 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Fam184a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Fam184a
|
APN |
10 |
53,694,686 (GRCm38) |
splice site |
probably benign |
|
|
IGL01448:Fam184a
|
APN |
10 |
53,698,949 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02052:Fam184a
|
APN |
10 |
53,697,120 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02086:Fam184a
|
APN |
10 |
53,699,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02163:Fam184a
|
APN |
10 |
53,647,134 (GRCm38) |
splice site |
probably null |
|
|
IGL02247:Fam184a
|
APN |
10 |
53,675,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02316:Fam184a
|
APN |
10 |
53,638,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02493:Fam184a
|
APN |
10 |
53,694,693 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02629:Fam184a
|
APN |
10 |
53,698,811 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL03006:Fam184a
|
APN |
10 |
53,698,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
2107:Fam184a
|
UTSW |
10 |
53,641,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Fam184a
|
UTSW |
10 |
53,684,354 (GRCm38) |
nonsense |
probably null |
|
|
R0427:Fam184a
|
UTSW |
10 |
53,690,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0477:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0511:Fam184a
|
UTSW |
10 |
53,698,879 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1322:Fam184a
|
UTSW |
10 |
53,652,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1422:Fam184a
|
UTSW |
10 |
53,675,208 (GRCm38) |
missense |
probably benign |
0.29 |
|
R1474:Fam184a
|
UTSW |
10 |
53,635,365 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1752:Fam184a
|
UTSW |
10 |
53,674,570 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1831:Fam184a
|
UTSW |
10 |
53,647,084 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2186:Fam184a
|
UTSW |
10 |
53,638,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2202:Fam184a
|
UTSW |
10 |
53,652,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2203:Fam184a
|
UTSW |
10 |
53,652,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2221:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2223:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2261:Fam184a
|
UTSW |
10 |
53,647,570 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2444:Fam184a
|
UTSW |
10 |
53,640,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3932:Fam184a
|
UTSW |
10 |
53,699,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4685:Fam184a
|
UTSW |
10 |
53,698,500 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4953:Fam184a
|
UTSW |
10 |
53,698,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5056:Fam184a
|
UTSW |
10 |
53,674,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5420:Fam184a
|
UTSW |
10 |
53,633,657 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6159:Fam184a
|
UTSW |
10 |
53,698,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6554:Fam184a
|
UTSW |
10 |
53,640,967 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6714:Fam184a
|
UTSW |
10 |
53,698,883 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6966:Fam184a
|
UTSW |
10 |
53,654,999 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7034:Fam184a
|
UTSW |
10 |
53,694,814 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7237:Fam184a
|
UTSW |
10 |
53,634,393 (GRCm38) |
unclassified |
probably benign |
|
|
R7253:Fam184a
|
UTSW |
10 |
53,698,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7359:Fam184a
|
UTSW |
10 |
53,699,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7449:Fam184a
|
UTSW |
10 |
53,698,634 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7479:Fam184a
|
UTSW |
10 |
53,655,014 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7725:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7726:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7881:Fam184a
|
UTSW |
10 |
53,698,493 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7886:Fam184a
|
UTSW |
10 |
53,675,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7896:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7897:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7937:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7943:Fam184a
|
UTSW |
10 |
53,647,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7943:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7970:Fam184a
|
UTSW |
10 |
53,699,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7972:Fam184a
|
UTSW |
10 |
53,638,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8049:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R9070:Fam184a
|
UTSW |
10 |
53,638,277 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9134:Fam184a
|
UTSW |
10 |
53,697,248 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9373:Fam184a
|
UTSW |
10 |
53,690,019 (GRCm38) |
missense |
probably benign |
|
|
R9614:Fam184a
|
UTSW |
10 |
53,641,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9644:Fam184a
|
UTSW |
10 |
53,697,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9706:Fam184a
|
UTSW |
10 |
53,699,153 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9787:Fam184a
|
UTSW |
10 |
53,750,768 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Fam184a
|
UTSW |
10 |
53,699,086 (GRCm38) |
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 |
Incidental Mutation