Incidental Mutation 'R2350:Fam234b'
ID |
246058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam234b
|
Ensembl Gene |
ENSMUSG00000030207 |
Gene Name |
family with sequence similarity 234, member B |
Synonyms |
8430419L09Rik |
MMRRC Submission |
040332-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R2350 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
135173881-135213240 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 135208722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 545
(V545E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111915]
[ENSMUST00000111916]
|
AlphaFold |
Q8BYI8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111915
AA Change: V545E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107546 Gene: ENSMUSG00000030207 AA Change: V545E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111916
AA Change: V545E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107547 Gene: ENSMUSG00000030207 AA Change: V545E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151951
|
Meta Mutation Damage Score |
0.8785 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
C |
6: 121,655,047 (GRCm39) |
|
probably benign |
Het |
Adam12 |
T |
C |
7: 133,521,253 (GRCm39) |
T312A |
probably damaging |
Het |
Adamts20 |
C |
T |
15: 94,181,797 (GRCm39) |
C1632Y |
probably damaging |
Het |
Ago2 |
T |
C |
15: 72,991,310 (GRCm39) |
M543V |
probably benign |
Het |
Alpk3 |
T |
C |
7: 80,744,718 (GRCm39) |
L1271P |
probably damaging |
Het |
Arpin |
T |
A |
7: 79,581,553 (GRCm39) |
K56* |
probably null |
Het |
Ccdc138 |
G |
T |
10: 58,397,715 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
A |
T |
5: 122,260,948 (GRCm39) |
M192K |
probably benign |
Het |
Cldn12 |
A |
T |
5: 5,557,845 (GRCm39) |
V194D |
possibly damaging |
Het |
Cntnap5b |
T |
C |
1: 100,306,851 (GRCm39) |
L485P |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,851,208 (GRCm39) |
D165G |
probably damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,417,645 (GRCm39) |
M326K |
probably damaging |
Het |
D630003M21Rik |
T |
A |
2: 158,042,931 (GRCm39) |
T870S |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,039,317 (GRCm39) |
D155G |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,645,011 (GRCm39) |
|
probably null |
Het |
Dqx1 |
T |
A |
6: 83,036,068 (GRCm39) |
C133* |
probably null |
Het |
Flcn |
T |
C |
11: 59,683,485 (GRCm39) |
H564R |
probably damaging |
Het |
Gsdmc4 |
T |
A |
15: 63,765,014 (GRCm39) |
H348L |
probably benign |
Het |
Gucy2c |
G |
T |
6: 136,740,072 (GRCm39) |
P252T |
probably damaging |
Het |
Insl6 |
T |
A |
19: 29,302,645 (GRCm39) |
E24V |
possibly damaging |
Het |
Irx1 |
T |
A |
13: 72,108,167 (GRCm39) |
T172S |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,799,713 (GRCm39) |
|
probably benign |
Het |
Myom2 |
T |
C |
8: 15,158,835 (GRCm39) |
V837A |
probably benign |
Het |
Nfatc2ip |
T |
C |
7: 125,995,170 (GRCm39) |
N126S |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Npepl1 |
T |
C |
2: 173,953,566 (GRCm39) |
S166P |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or7d11 |
G |
T |
9: 19,966,384 (GRCm39) |
A125D |
probably damaging |
Het |
Otop2 |
T |
G |
11: 115,217,676 (GRCm39) |
C171G |
probably damaging |
Het |
Parpbp |
C |
A |
10: 87,968,950 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,637,563 (GRCm39) |
S30T |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,893,373 (GRCm39) |
V359E |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,101,855 (GRCm39) |
D131G |
probably null |
Het |
Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,613,979 (GRCm39) |
F290S |
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,481,846 (GRCm39) |
F215L |
probably benign |
Het |
Vmn2r101 |
T |
C |
17: 19,810,045 (GRCm39) |
V277A |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,773 (GRCm39) |
S354G |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,811,281 (GRCm39) |
S588T |
probably damaging |
Het |
|
Other mutations in Fam234b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00536:Fam234b
|
APN |
6 |
135,202,202 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01020:Fam234b
|
APN |
6 |
135,188,904 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01731:Fam234b
|
APN |
6 |
135,188,903 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01994:Fam234b
|
APN |
6 |
135,202,203 (GRCm39) |
nonsense |
probably null |
|
IGL02010:Fam234b
|
APN |
6 |
135,186,405 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02071:Fam234b
|
APN |
6 |
135,204,149 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02340:Fam234b
|
APN |
6 |
135,208,659 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Fam234b
|
APN |
6 |
135,202,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Fam234b
|
UTSW |
6 |
135,204,224 (GRCm39) |
missense |
probably benign |
0.00 |
R0076:Fam234b
|
UTSW |
6 |
135,204,224 (GRCm39) |
missense |
probably benign |
0.00 |
R0123:Fam234b
|
UTSW |
6 |
135,194,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0127:Fam234b
|
UTSW |
6 |
135,195,821 (GRCm39) |
splice site |
probably benign |
|
R0225:Fam234b
|
UTSW |
6 |
135,194,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0570:Fam234b
|
UTSW |
6 |
135,186,247 (GRCm39) |
missense |
probably benign |
0.00 |
R0705:Fam234b
|
UTSW |
6 |
135,204,213 (GRCm39) |
missense |
probably benign |
0.11 |
R1140:Fam234b
|
UTSW |
6 |
135,202,756 (GRCm39) |
missense |
probably benign |
0.00 |
R1446:Fam234b
|
UTSW |
6 |
135,186,328 (GRCm39) |
splice site |
probably null |
|
R1464:Fam234b
|
UTSW |
6 |
135,205,490 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Fam234b
|
UTSW |
6 |
135,205,490 (GRCm39) |
missense |
probably benign |
0.00 |
R2044:Fam234b
|
UTSW |
6 |
135,203,912 (GRCm39) |
missense |
probably benign |
0.04 |
R3914:Fam234b
|
UTSW |
6 |
135,202,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Fam234b
|
UTSW |
6 |
135,186,134 (GRCm39) |
missense |
unknown |
|
R5102:Fam234b
|
UTSW |
6 |
135,186,282 (GRCm39) |
missense |
probably benign |
0.03 |
R5133:Fam234b
|
UTSW |
6 |
135,186,193 (GRCm39) |
missense |
probably benign |
0.01 |
R5313:Fam234b
|
UTSW |
6 |
135,186,185 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5375:Fam234b
|
UTSW |
6 |
135,210,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R5418:Fam234b
|
UTSW |
6 |
135,203,966 (GRCm39) |
missense |
probably benign |
0.00 |
R5838:Fam234b
|
UTSW |
6 |
135,202,265 (GRCm39) |
missense |
probably benign |
0.00 |
R5953:Fam234b
|
UTSW |
6 |
135,202,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6737:Fam234b
|
UTSW |
6 |
135,205,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R7056:Fam234b
|
UTSW |
6 |
135,205,450 (GRCm39) |
missense |
probably benign |
0.32 |
R7221:Fam234b
|
UTSW |
6 |
135,205,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R7418:Fam234b
|
UTSW |
6 |
135,194,009 (GRCm39) |
missense |
probably benign |
0.04 |
R7459:Fam234b
|
UTSW |
6 |
135,188,899 (GRCm39) |
missense |
probably benign |
0.04 |
R7599:Fam234b
|
UTSW |
6 |
135,203,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Fam234b
|
UTSW |
6 |
135,202,241 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7639:Fam234b
|
UTSW |
6 |
135,202,798 (GRCm39) |
splice site |
probably null |
|
R7748:Fam234b
|
UTSW |
6 |
135,186,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Fam234b
|
UTSW |
6 |
135,220,912 (GRCm39) |
missense |
probably benign |
0.01 |
R8544:Fam234b
|
UTSW |
6 |
135,210,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Fam234b
|
UTSW |
6 |
135,202,793 (GRCm39) |
nonsense |
probably null |
|
R9733:Fam234b
|
UTSW |
6 |
135,194,008 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1177:Fam234b
|
UTSW |
6 |
135,175,006 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCGTATGGTCCCTGTAGCTG -3'
(R):5'- GTATTCTCACCCCAGAACTCCG -3'
Sequencing Primer
(F):5'- TGGCCGGAACTTTGCTC -3'
(R):5'- TCCGAGAAAGCTCCCCAG -3'
|
Posted On |
2014-10-30 |