Incidental Mutation 'IGL01731:Fam234b'
| ID |
105482 |
| 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 # |
IGL01731
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
135173881-135213240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135188903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 169
(F169L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111915]
[ENSMUST00000111916]
[ENSMUST00000130612]
[ENSMUST00000151071]
|
| AlphaFold |
Q8BYI8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111915
AA Change: F169L
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: F169L
| 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 |
possibly damaging
Transcript: ENSMUST00000111916
AA Change: F169L
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: F169L
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430093F15Rik |
T |
A |
19: 10,762,711 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,199,749 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
G |
A |
7: 45,652,034 (GRCm39) |
P611L |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,241,385 (GRCm39) |
E547G |
probably benign |
Het |
| Aldh1b1 |
T |
C |
4: 45,803,472 (GRCm39) |
F337L |
possibly damaging |
Het |
| Alg1 |
C |
T |
16: 5,062,383 (GRCm39) |
R422C |
probably benign |
Het |
| Ankrd23 |
A |
G |
1: 36,573,147 (GRCm39) |
L75S |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,439 (GRCm39) |
H578R |
probably damaging |
Het |
| Atp10a |
G |
T |
7: 58,447,310 (GRCm39) |
W684L |
probably benign |
Het |
| Bzw2 |
T |
C |
12: 36,157,647 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
A |
T |
16: 97,671,372 (GRCm39) |
I509K |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,868,057 (GRCm39) |
T864A |
possibly damaging |
Het |
| Ces1f |
A |
G |
8: 93,993,948 (GRCm39) |
S278P |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,111 (GRCm39) |
I208V |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,061,738 (GRCm39) |
S425P |
probably benign |
Het |
| Cxcl1 |
A |
G |
5: 91,039,436 (GRCm39) |
T60A |
probably benign |
Het |
| Diaph1 |
G |
T |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,919,632 (GRCm39) |
I139V |
probably benign |
Het |
| Exoc3l |
T |
G |
8: 106,019,587 (GRCm39) |
K394T |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,270,293 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
C |
A |
12: 51,849,593 (GRCm39) |
D204Y |
possibly damaging |
Het |
| Hephl1 |
A |
T |
9: 14,981,066 (GRCm39) |
Y789N |
probably damaging |
Het |
| Igfbp6 |
C |
A |
15: 102,053,252 (GRCm39) |
N90K |
probably benign |
Het |
| Khdrbs1 |
A |
T |
4: 129,619,462 (GRCm39) |
D226E |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,490,013 (GRCm39) |
Q163L |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,472 (GRCm39) |
I1188T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,298,278 (GRCm39) |
E2252G |
probably benign |
Het |
| Nepn |
G |
T |
10: 52,276,660 (GRCm39) |
R132L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,342 (GRCm39) |
L193* |
probably null |
Het |
| Ntn1 |
A |
G |
11: 68,276,244 (GRCm39) |
S235P |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,061,873 (GRCm39) |
R684L |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,738 (GRCm39) |
D545G |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,293 (GRCm39) |
S154G |
possibly damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,406,282 (GRCm39) |
T285A |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,980 (GRCm39) |
V146A |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,053 (GRCm39) |
T135S |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,682 (GRCm39) |
I194F |
probably benign |
Het |
| Polr3b |
A |
T |
10: 84,467,704 (GRCm39) |
R95* |
probably null |
Het |
| Prelid2 |
C |
T |
18: 42,070,714 (GRCm39) |
V40M |
probably benign |
Het |
| Ptprb |
T |
G |
10: 116,208,781 (GRCm39) |
L2205R |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,551,240 (GRCm39) |
V79A |
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,598,162 (GRCm39) |
I259T |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,189 (GRCm39) |
N162I |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,721 (GRCm39) |
V75A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,757 (GRCm39) |
*852K |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,505 (GRCm39) |
Q69* |
probably null |
Het |
| Zfp865 |
G |
T |
7: 5,032,875 (GRCm39) |
A287S |
probably benign |
Het |
| Zmpste24 |
T |
A |
4: 120,955,081 (GRCm39) |
Q39L |
probably benign |
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 |
|
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 |
2014-01-21 |
Incidental Mutation