Incidental Mutation 'IGL03103:Haspin'
| ID |
418831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Haspin
|
| Ensembl Gene |
ENSMUSG00000050107 |
| Gene Name |
histone H3 associated protein kinase |
| Synonyms |
Gsg2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
IGL03103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
73026311-73029120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73027526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 521
(V521D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006101]
[ENSMUST00000052140]
[ENSMUST00000102537]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006101
|
| SMART Domains |
Protein: ENSMUSP00000006101
Gene: ENSMUSG00000005947
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:Int_alpha
|
36 |
118 |
1e-24 |
BLAST |
|
VWA
|
193 |
380 |
1.13e-39 |
SMART |
|
Int_alpha
|
448 |
496 |
1.49e-3 |
SMART |
|
Int_alpha
|
502 |
559 |
6.83e-12 |
SMART |
|
Int_alpha
|
565 |
626 |
1.79e-15 |
SMART |
|
Int_alpha
|
633 |
685 |
6.29e0 |
SMART |
|
transmembrane domain
|
1115 |
1137 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1138 |
1152 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052140
AA Change: V521D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: V521D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
378 |
N/A |
INTRINSIC |
|
SCOP:d1h8fa_
|
437 |
619 |
1e-8 |
SMART |
|
DUF3635
|
664 |
753 |
3.83e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102537
|
| SMART Domains |
Protein: ENSMUSP00000099596
Gene: ENSMUSG00000005947
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:Int_alpha
|
36 |
118 |
5e-25 |
BLAST |
|
VWA
|
193 |
380 |
1.13e-39 |
SMART |
|
Int_alpha
|
448 |
496 |
1.49e-3 |
SMART |
|
Int_alpha
|
502 |
559 |
6.83e-12 |
SMART |
|
Int_alpha
|
565 |
626 |
1.79e-15 |
SMART |
|
Int_alpha
|
633 |
685 |
6.29e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc27 |
A |
T |
11: 104,403,806 (GRCm39) |
F652Y |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,972,817 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
A |
G |
7: 87,959,013 (GRCm39) |
N431S |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,430,479 (GRCm39) |
M235T |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,399,275 (GRCm39) |
P220S |
probably damaging |
Het |
| Gpr180 |
A |
T |
14: 118,377,175 (GRCm39) |
I59F |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,144 (GRCm39) |
T622A |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,704,408 (GRCm39) |
T57N |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,014 (GRCm39) |
F422S |
probably damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,414 (GRCm39) |
N248Y |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,772,507 (GRCm39) |
V163A |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,592,316 (GRCm39) |
|
probably null |
Het |
| Mon2 |
T |
A |
10: 122,866,008 (GRCm39) |
|
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,488,008 (GRCm39) |
S374G |
possibly damaging |
Het |
| Nr1h3 |
T |
A |
2: 91,022,360 (GRCm39) |
K89N |
probably damaging |
Het |
| Or4c29 |
A |
T |
2: 88,740,522 (GRCm39) |
S72T |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,785 (GRCm39) |
D75G |
probably damaging |
Het |
| Or8b49 |
A |
G |
9: 38,505,823 (GRCm39) |
Y102C |
probably damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,601 (GRCm39) |
P445L |
possibly damaging |
Het |
| Pstpip1 |
G |
T |
9: 56,021,592 (GRCm39) |
V39L |
possibly damaging |
Het |
| Sbf1 |
A |
T |
15: 89,178,150 (GRCm39) |
L1560Q |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,568 (GRCm39) |
Q114* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,697,835 (GRCm39) |
H96R |
probably damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,373 (GRCm39) |
L778P |
probably benign |
Het |
| Tas2r110 |
A |
G |
6: 132,845,443 (GRCm39) |
Q158R |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,300,524 (GRCm39) |
I92V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,579,266 (GRCm39) |
M15549L |
possibly damaging |
Het |
| Urb2 |
T |
G |
8: 124,756,491 (GRCm39) |
S733A |
probably benign |
Het |
| Vcl |
T |
C |
14: 21,074,348 (GRCm39) |
W912R |
probably damaging |
Het |
|
| Other mutations in Haspin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01636:Haspin
|
APN |
11 |
73,028,231 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03088:Haspin
|
APN |
11 |
73,027,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Suddenly
|
UTSW |
11 |
73,027,712 (GRCm39) |
missense |
probably benign |
0.02 |
|
yesterday
|
UTSW |
11 |
73,028,377 (GRCm39) |
nonsense |
probably null |
|
|
R0034:Haspin
|
UTSW |
11 |
73,029,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Haspin
|
UTSW |
11 |
73,027,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0313:Haspin
|
UTSW |
11 |
73,027,124 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2165:Haspin
|
UTSW |
11 |
73,027,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2326:Haspin
|
UTSW |
11 |
73,026,911 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3950:Haspin
|
UTSW |
11 |
73,027,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4168:Haspin
|
UTSW |
11 |
73,026,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Haspin
|
UTSW |
11 |
73,028,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6532:Haspin
|
UTSW |
11 |
73,028,377 (GRCm39) |
nonsense |
probably null |
|
|
R6552:Haspin
|
UTSW |
11 |
73,028,390 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6952:Haspin
|
UTSW |
11 |
73,026,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7237:Haspin
|
UTSW |
11 |
73,027,712 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7512:Haspin
|
UTSW |
11 |
73,027,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Haspin
|
UTSW |
11 |
73,027,572 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8704:Haspin
|
UTSW |
11 |
73,028,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Haspin
|
UTSW |
11 |
73,027,430 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8935:Haspin
|
UTSW |
11 |
73,026,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Haspin
|
UTSW |
11 |
73,026,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Haspin
|
UTSW |
11 |
73,026,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1186:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Haspin
|
UTSW |
11 |
73,028,777 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Haspin
|
UTSW |
11 |
73,028,174 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation