Incidental Mutation 'R2326:Haspin'
| ID |
244927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haspin
|
| Ensembl Gene |
ENSMUSG00000050107 |
| Gene Name |
histone H3 associated protein kinase |
| Synonyms |
Gsg2 |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R2326 (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 73026911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 726
(I726T)
|
| 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 benign
Transcript: ENSMUST00000052140
AA Change: I726T
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: I726T
| 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 |
0.3186 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly 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 |
|
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 |
|
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 |
|
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'- GCTGACAGGAACTCTTAAGGATG -3'
(R):5'- TCCGCTGAAGAGGACCTATTTAC -3'
Sequencing Primer
(F):5'- GGAACTCTTAAGGATGTGCTTTCACC -3'
(R):5'- CCTATTTACAGGTGAGGGTGACTACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation