Incidental Mutation 'IGL01020:Fam234b'
| ID |
53630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam234b
|
| Ensembl Gene |
ENSMUSG00000030207 |
| Gene Name |
family with sequence similarity 234, member B |
| Synonyms |
8430419L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL01020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
135173881-135213240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135188904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 170
(V170M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111915]
[ENSMUST00000111916]
[ENSMUST00000130612]
[ENSMUST00000151071]
|
| AlphaFold |
Q8BYI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111915
AA Change: V170M
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: V170M
| 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 benign
Transcript: ENSMUST00000111916
AA Change: V170M
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: V170M
| 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 benign
Transcript: ENSMUST00000130612
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151071
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
| Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
| Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
| Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
| Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
| Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
| Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
| Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
| Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
| Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
| Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation