Incidental Mutation 'IGL01861:Fam133b'
ID |
178331 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam133b
|
Ensembl Gene |
ENSMUSG00000058503 |
Gene Name |
family with sequence similarity 133, member B |
Synonyms |
5830415L20Rik, 2900022K02Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.537)
|
Stock # |
IGL01861
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
3593833-3620238 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 3614242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115527]
[ENSMUST00000197082]
[ENSMUST00000199666]
|
AlphaFold |
Q9CVI2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083110
|
Predicted Effect |
unknown
Transcript: ENSMUST00000115527
AA Change: D173G
|
SMART Domains |
Protein: ENSMUSP00000111189 Gene: ENSMUSG00000058503 AA Change: D173G
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
82 |
N/A |
INTRINSIC |
low complexity region
|
85 |
141 |
N/A |
INTRINSIC |
low complexity region
|
145 |
166 |
N/A |
INTRINSIC |
low complexity region
|
218 |
244 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196499
|
Predicted Effect |
unknown
Transcript: ENSMUST00000197082
AA Change: D156G
|
SMART Domains |
Protein: ENSMUSP00000142744 Gene: ENSMUSG00000058503 AA Change: D156G
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
82 |
N/A |
INTRINSIC |
low complexity region
|
85 |
158 |
N/A |
INTRINSIC |
low complexity region
|
201 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199666
|
SMART Domains |
Protein: ENSMUSP00000143004 Gene: ENSMUSG00000058503
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
82 |
N/A |
INTRINSIC |
low complexity region
|
86 |
109 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200354
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arrdc5 |
T |
C |
17: 56,607,144 (GRCm39) |
T34A |
possibly damaging |
Het |
Atm |
C |
A |
9: 53,405,912 (GRCm39) |
R1252L |
probably null |
Het |
Cd34 |
T |
C |
1: 194,640,888 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,256 (GRCm39) |
V2944A |
probably damaging |
Het |
Cntnap3 |
C |
T |
13: 64,946,922 (GRCm39) |
G169D |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,679,508 (GRCm39) |
T326S |
probably benign |
Het |
Dnah7a |
C |
T |
1: 53,623,608 (GRCm39) |
|
probably benign |
Het |
Fhod1 |
A |
G |
8: 106,057,808 (GRCm39) |
S906P |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,899,910 (GRCm39) |
Y1099C |
probably damaging |
Het |
Gpr63 |
C |
T |
4: 25,008,545 (GRCm39) |
T423M |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,241,393 (GRCm39) |
Y339* |
probably null |
Het |
Lingo2 |
A |
T |
4: 35,709,526 (GRCm39) |
D151E |
probably benign |
Het |
Mill2 |
A |
T |
7: 18,590,565 (GRCm39) |
Q215L |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,317,185 (GRCm39) |
|
probably benign |
Het |
Ndufv1 |
A |
G |
19: 4,058,803 (GRCm39) |
V235A |
probably benign |
Het |
Or8b41 |
T |
C |
9: 38,055,046 (GRCm39) |
I205T |
probably damaging |
Het |
Pafah1b1 |
A |
T |
11: 74,581,403 (GRCm39) |
N22K |
possibly damaging |
Het |
Prune1 |
G |
T |
3: 95,172,868 (GRCm39) |
R66S |
probably damaging |
Het |
Ptcd1 |
A |
T |
5: 145,095,587 (GRCm39) |
I291N |
possibly damaging |
Het |
Ptprk |
A |
G |
10: 28,259,441 (GRCm39) |
I294V |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,597,675 (GRCm39) |
V471M |
probably damaging |
Het |
Rnase6 |
C |
A |
14: 51,367,748 (GRCm39) |
Q47K |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,417,021 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,124,457 (GRCm39) |
|
probably benign |
Het |
Stap1 |
A |
G |
5: 86,244,383 (GRCm39) |
I217V |
possibly damaging |
Het |
Taf1d |
T |
C |
9: 15,220,035 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,284,658 (GRCm39) |
H809R |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,060,717 (GRCm39) |
N49S |
probably damaging |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,374 (GRCm39) |
|
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,063,804 (GRCm39) |
Y589C |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,973,742 (GRCm39) |
T4S |
possibly damaging |
Het |
Zfp687 |
A |
T |
3: 94,919,171 (GRCm39) |
F200L |
probably damaging |
Het |
|
Other mutations in Fam133b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03026:Fam133b
|
APN |
5 |
3,609,646 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03218:Fam133b
|
APN |
5 |
3,604,684 (GRCm39) |
nonsense |
probably null |
|
R0433:Fam133b
|
UTSW |
5 |
3,608,560 (GRCm39) |
splice site |
probably benign |
|
R1299:Fam133b
|
UTSW |
5 |
3,604,626 (GRCm39) |
splice site |
probably benign |
|
R3176:Fam133b
|
UTSW |
5 |
3,608,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R3276:Fam133b
|
UTSW |
5 |
3,608,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R3705:Fam133b
|
UTSW |
5 |
3,611,034 (GRCm39) |
splice site |
probably benign |
|
R4722:Fam133b
|
UTSW |
5 |
3,593,949 (GRCm39) |
critical splice donor site |
probably null |
|
R4799:Fam133b
|
UTSW |
5 |
3,607,815 (GRCm39) |
missense |
probably damaging |
0.99 |
R6151:Fam133b
|
UTSW |
5 |
3,609,133 (GRCm39) |
missense |
probably null |
|
R6709:Fam133b
|
UTSW |
5 |
3,619,059 (GRCm39) |
utr 3 prime |
probably benign |
|
R6835:Fam133b
|
UTSW |
5 |
3,604,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8056:Fam133b
|
UTSW |
5 |
3,615,744 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-05-07 |