Incidental Mutation 'R0313:Haspin'
ID |
25346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Haspin
|
Ensembl Gene |
ENSMUSG00000050107 |
Gene Name |
histone H3 associated protein kinase |
Synonyms |
Gsg2 |
MMRRC Submission |
038523-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.816)
|
Stock # |
R0313 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
73026311-73029120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73027124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 655
(V655A)
|
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: V655A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000055806 Gene: ENSMUSG00000050107 AA Change: V655A
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 |
|
Meta Mutation Damage Score |
0.1253 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
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 |
IGL03103:Haspin
|
APN |
11 |
73,027,526 (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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAGGTAATGCAGCCACAGCAC -3'
(R):5'- GAGCGAATGAAAACCAAGCTGTCC -3'
Sequencing Primer
(F):5'- CCACAGCACATTATTGTAAGGGTG -3'
(R):5'- GAAAACCAAGCTGTCCTCTGTG -3'
|
Posted On |
2013-04-16 |