Incidental Mutation 'IGL01779:Hs1bp3'
| ID |
153898 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hs1bp3
|
| Ensembl Gene |
ENSMUSG00000020605 |
| Gene Name |
HCLS1 binding protein 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01779
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
8363432-8393824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8391945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 349
(T349I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020927]
|
| AlphaFold |
Q3TC93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020927
AA Change: T349I
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: T349I
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
22 |
138 |
2.51e-22 |
SMART |
|
low complexity region
|
326 |
348 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,346 (GRCm39) |
I167V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
| Col8a1 |
A |
T |
16: 57,448,726 (GRCm39) |
H261Q |
unknown |
Het |
| Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
| Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
| Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,870,672 (GRCm39) |
M528V |
probably benign |
Het |
| Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
| Stambpl1 |
A |
T |
19: 34,217,427 (GRCm39) |
H422L |
possibly damaging |
Het |
| Trim67 |
G |
A |
8: 125,554,860 (GRCm39) |
G701R |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
Het |
|
| Other mutations in Hs1bp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1745:Hs1bp3
|
UTSW |
12 |
8,371,690 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Hs1bp3
|
UTSW |
12 |
8,387,738 (GRCm39) |
missense |
probably benign |
|
|
R2183:Hs1bp3
|
UTSW |
12 |
8,371,610 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4624:Hs1bp3
|
UTSW |
12 |
8,386,357 (GRCm39) |
missense |
probably benign |
|
|
R4628:Hs1bp3
|
UTSW |
12 |
8,386,357 (GRCm39) |
missense |
probably benign |
|
|
R4672:Hs1bp3
|
UTSW |
12 |
8,391,983 (GRCm39) |
nonsense |
probably null |
|
|
R4908:Hs1bp3
|
UTSW |
12 |
8,374,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Hs1bp3
|
UTSW |
12 |
8,374,048 (GRCm39) |
unclassified |
probably benign |
|
|
R5845:Hs1bp3
|
UTSW |
12 |
8,386,275 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5876:Hs1bp3
|
UTSW |
12 |
8,391,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5931:Hs1bp3
|
UTSW |
12 |
8,391,915 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7665:Hs1bp3
|
UTSW |
12 |
8,367,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Hs1bp3
|
UTSW |
12 |
8,391,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9348:Hs1bp3
|
UTSW |
12 |
8,386,273 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9661:Hs1bp3
|
UTSW |
12 |
8,367,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation