Incidental Mutation 'IGL02340:Fam234b'
ID |
289019 |
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 # |
IGL02340
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
135173881-135213240 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135208659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 524
(L524P)
|
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: L524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107546 Gene: ENSMUSG00000030207 AA Change: L524P
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: L524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107547 Gene: ENSMUSG00000030207 AA Change: L524P
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
T |
A |
7: 27,328,824 (GRCm39) |
I182N |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,728,255 (GRCm39) |
T462A |
probably benign |
Het |
Amz1 |
A |
G |
5: 140,738,014 (GRCm39) |
R425G |
probably damaging |
Het |
Aoc2 |
A |
G |
11: 101,217,201 (GRCm39) |
E428G |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Chchd6 |
A |
T |
6: 89,396,762 (GRCm39) |
H216Q |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,675,086 (GRCm39) |
Y591C |
probably damaging |
Het |
Cln8 |
T |
C |
8: 14,945,178 (GRCm39) |
L164S |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,581,474 (GRCm39) |
I431T |
possibly damaging |
Het |
Fmo1 |
T |
C |
1: 162,660,559 (GRCm39) |
N410S |
probably benign |
Het |
Ftsj3 |
G |
A |
11: 106,143,972 (GRCm39) |
R251* |
probably null |
Het |
Greb1l |
A |
T |
18: 10,515,200 (GRCm39) |
D555V |
probably damaging |
Het |
Hcar1 |
G |
T |
5: 124,017,135 (GRCm39) |
H185Q |
probably damaging |
Het |
Kcnj12 |
G |
A |
11: 60,960,319 (GRCm39) |
V206I |
probably benign |
Het |
Lamc3 |
G |
A |
2: 31,808,469 (GRCm39) |
G742S |
probably damaging |
Het |
Lipg |
T |
C |
18: 75,093,946 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
A |
G |
12: 84,839,729 (GRCm39) |
|
probably null |
Het |
Mcm3ap |
T |
G |
10: 76,332,386 (GRCm39) |
Y1234* |
probably null |
Het |
Myh6 |
T |
A |
14: 55,194,612 (GRCm39) |
D719V |
possibly damaging |
Het |
Myo9b |
A |
G |
8: 71,743,689 (GRCm39) |
N250S |
probably damaging |
Het |
Nherf1 |
A |
G |
11: 115,070,858 (GRCm39) |
E270G |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,054,652 (GRCm39) |
W2438* |
probably null |
Het |
Nphp1 |
G |
A |
2: 127,621,987 (GRCm39) |
Q47* |
probably null |
Het |
Nptx2 |
T |
C |
5: 144,493,056 (GRCm39) |
L381P |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 90,171,402 (GRCm39) |
N911S |
possibly damaging |
Het |
Or10j2 |
A |
T |
1: 173,097,972 (GRCm39) |
I77F |
probably benign |
Het |
Or5d46 |
T |
C |
2: 88,169,906 (GRCm39) |
|
probably benign |
Het |
P4ha1 |
T |
A |
10: 59,188,023 (GRCm39) |
F260Y |
probably benign |
Het |
Pitpnm2 |
T |
C |
5: 124,268,676 (GRCm39) |
D504G |
probably damaging |
Het |
Prss54 |
A |
G |
8: 96,292,237 (GRCm39) |
V114A |
probably benign |
Het |
Ptprc |
G |
A |
1: 137,998,957 (GRCm39) |
T1031M |
probably damaging |
Het |
Rtf2 |
T |
C |
2: 172,310,511 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,777,349 (GRCm39) |
|
probably benign |
Het |
Slc14a2 |
C |
T |
18: 78,206,341 (GRCm39) |
E492K |
probably damaging |
Het |
Stab1 |
G |
T |
14: 30,862,367 (GRCm39) |
N2322K |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 130,087,369 (GRCm39) |
N1162S |
probably benign |
Het |
Tmprss11b |
T |
C |
5: 86,810,090 (GRCm39) |
I297V |
probably benign |
Het |
Tnn |
T |
C |
1: 159,972,775 (GRCm39) |
N276D |
probably benign |
Het |
Trhde |
A |
T |
10: 114,428,118 (GRCm39) |
|
probably benign |
Het |
Vmn1r115 |
T |
A |
7: 20,578,453 (GRCm39) |
H153L |
possibly damaging |
Het |
Vmn1r203 |
T |
A |
13: 22,708,997 (GRCm39) |
C259* |
probably null |
Het |
Xpot |
T |
A |
10: 121,451,109 (GRCm39) |
E97V |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,318,712 (GRCm39) |
D438G |
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 |
|
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 |
2015-04-16 |