Incidental Mutation 'R6952:Haspin'
| ID |
543293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haspin
|
| Ensembl Gene |
ENSMUSG00000050107 |
| Gene Name |
histone H3 associated protein kinase |
| Synonyms |
Gsg2 |
| MMRRC Submission |
045064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
R6952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73026311-73029120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73026971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 706
(D706G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000052140
AA Change: D706G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: D706G
| 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 |
0.3069 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,484 (GRCm39) |
|
probably null |
Het |
| Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
| Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,951,150 (GRCm39) |
|
probably null |
Het |
| Ccdc148 |
T |
C |
2: 58,713,657 (GRCm39) |
H498R |
probably damaging |
Het |
| Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
| Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
| Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
| Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
| Ik |
C |
T |
18: 36,886,613 (GRCm39) |
R362C |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
| Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,056,482 (GRCm39) |
E371G |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
| Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
| Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
| Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
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 |
|
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'- CTCTGAAAGTCTAAGTTCCTGGC -3'
(R):5'- GGGAAAACGAGCACCATTCC -3'
Sequencing Primer
(F):5'- GAAAGTCTAAGTTCCTGGCTTACC -3'
(R):5'- CATGGGCTACAGGTCAACATCATTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation