Incidental Mutation 'R3914:Fam234b'
ID |
309555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam234b
|
Ensembl Gene |
ENSMUSG00000030207 |
Gene Name |
family with sequence similarity 234, member B |
Synonyms |
8430419L09Rik |
MMRRC Submission |
040912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R3914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
135173881-135213240 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135202681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 345
(D345G)
|
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: D345G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107546 Gene: ENSMUSG00000030207 AA Change: D345G
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: D345G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107547 Gene: ENSMUSG00000030207 AA Change: D345G
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 |
|
Meta Mutation Damage Score |
0.2315 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
Ccdc174 |
G |
T |
6: 91,876,338 (GRCm39) |
A392S |
possibly damaging |
Het |
Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Exoc1 |
G |
A |
5: 76,691,408 (GRCm39) |
S244N |
possibly damaging |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
Islr2 |
A |
T |
9: 58,105,666 (GRCm39) |
Y531* |
probably null |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
Rabl6 |
T |
C |
2: 25,478,718 (GRCm39) |
T238A |
possibly damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
Slc26a3 |
A |
T |
12: 31,503,905 (GRCm39) |
E303D |
probably benign |
Het |
Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly 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 |
R2350:Fam234b
|
UTSW |
6 |
135,208,722 (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'- AGCTTTCCCTTGATGTGGTC -3'
(R):5'- CGTGGTGTATGAGTCTCCAGAG -3'
Sequencing Primer
(F):5'- GGACTGCCCACATCACTTG -3'
(R):5'- TGTATGAGTCTCCAGAGGACCTC -3'
|
Posted On |
2015-04-17 |