Incidental Mutation 'R8254:Haspin'
| ID |
640657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haspin
|
| Ensembl Gene |
ENSMUSG00000050107 |
| Gene Name |
histone H3 associated protein kinase |
| Synonyms |
Gsg2 |
| MMRRC Submission |
067680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R8254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73026311-73029120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73027572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 506
(Y506N)
|
| 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: Y506N
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: Y506N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,538,153 (GRCm39) |
S100P |
probably damaging |
Het |
| Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
| Fam3c |
T |
A |
6: 22,328,675 (GRCm39) |
T71S |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
| Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
| Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
| Itga2b |
C |
A |
11: 102,358,212 (GRCm39) |
R171L |
probably benign |
Het |
| Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
| Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
| Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
| Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
| Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
| Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,242 (GRCm39) |
Y191H |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
| Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,325,809 (GRCm39) |
N461S |
probably benign |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,440,264 (GRCm39) |
Q96L |
probably damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
| Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
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 |
|
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 |
|
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'- TCATTCGCTCCAAGTCAACC -3'
(R):5'- TAGTGATTGCCTTTCCACGG -3'
Sequencing Primer
(F):5'- CCCACCAAACTCAAATTCCAGG -3'
(R):5'- TTGCCTTTCCACGGAAAAACTGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation