Incidental Mutation 'IGL03022:Fam193b'
ID |
408022 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam193b
|
Ensembl Gene |
ENSMUSG00000021495 |
Gene Name |
family with sequence similarity 193, member B |
Synonyms |
IRIZIO |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
IGL03022
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
55687129-55718920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55691475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 429
(N429S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021957]
[ENSMUST00000225240]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021957
AA Change: N429S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021957 Gene: ENSMUSG00000021495 AA Change: N429S
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
low complexity region
|
161 |
174 |
N/A |
INTRINSIC |
low complexity region
|
198 |
242 |
N/A |
INTRINSIC |
low complexity region
|
260 |
286 |
N/A |
INTRINSIC |
coiled coil region
|
371 |
404 |
N/A |
INTRINSIC |
low complexity region
|
566 |
573 |
N/A |
INTRINSIC |
low complexity region
|
622 |
635 |
N/A |
INTRINSIC |
low complexity region
|
641 |
657 |
N/A |
INTRINSIC |
Pfam:FAM193_C
|
722 |
776 |
9.6e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224249
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224486
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224572
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225240
AA Change: N133S
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225703
|
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 |
Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fam193b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01116:Fam193b
|
APN |
13 |
55,691,266 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01761:Fam193b
|
APN |
13 |
55,697,070 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01916:Fam193b
|
APN |
13 |
55,698,031 (GRCm39) |
splice site |
probably benign |
|
G1citation:Fam193b
|
UTSW |
13 |
55,689,504 (GRCm39) |
unclassified |
probably benign |
|
R0081:Fam193b
|
UTSW |
13 |
55,702,024 (GRCm39) |
unclassified |
probably benign |
|
R1170:Fam193b
|
UTSW |
13 |
55,689,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Fam193b
|
UTSW |
13 |
55,702,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R2069:Fam193b
|
UTSW |
13 |
55,690,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R2517:Fam193b
|
UTSW |
13 |
55,690,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4301:Fam193b
|
UTSW |
13 |
55,690,417 (GRCm39) |
nonsense |
probably null |
|
R4720:Fam193b
|
UTSW |
13 |
55,691,250 (GRCm39) |
missense |
probably benign |
0.17 |
R4782:Fam193b
|
UTSW |
13 |
55,691,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Fam193b
|
UTSW |
13 |
55,691,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R6652:Fam193b
|
UTSW |
13 |
55,690,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R6738:Fam193b
|
UTSW |
13 |
55,698,174 (GRCm39) |
missense |
probably benign |
0.01 |
R6822:Fam193b
|
UTSW |
13 |
55,689,504 (GRCm39) |
unclassified |
probably benign |
|
R7380:Fam193b
|
UTSW |
13 |
55,690,612 (GRCm39) |
missense |
probably benign |
0.00 |
R8323:Fam193b
|
UTSW |
13 |
55,702,223 (GRCm39) |
nonsense |
probably null |
|
R8547:Fam193b
|
UTSW |
13 |
55,698,117 (GRCm39) |
missense |
probably damaging |
1.00 |
X0011:Fam193b
|
UTSW |
13 |
55,690,443 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Fam193b
|
UTSW |
13 |
55,698,073 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |