Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Haspin'

212435

Institutional Source

Beutler Lab

Gene Symbol

Haspin

Ensembl Gene

ENSMUSG00000050107

Gene Name

histone H3 associated protein kinase

Synonyms

Gsg2

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73026311-73029120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73029044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 15 (T15M)

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: T15M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: T15M

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	C	T	7: 136,989,321 (GRCm39)	R60Q	probably benign	Het
Angpt4	C	T	2: 151,771,311 (GRCm39)	T209I	probably benign	Het
Ap3b1	T	C	13: 94,616,393 (GRCm39)		probably benign	Het
Aplp1	A	C	7: 30,143,867 (GRCm39)	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846 (GRCm38)	H844L	probably damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,819,225 (GRCm39)	V135I	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Cfap74	C	T	4: 155,545,344 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,175,708 (GRCm39)	I47L	probably benign	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Eef1d	T	C	15: 75,774,808 (GRCm39)	T200A	probably benign	Het
Exoc1l	A	G	5: 76,664,377 (GRCm39)	I155M	probably damaging	Het
Faap100	A	T	11: 120,262,973 (GRCm39)	M795K	probably benign	Het
Gabpb1	C	T	2: 126,500,454 (GRCm39)	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,438,933 (GRCm39)	M381I	probably benign	Het
Gm5114	A	G	7: 39,058,282 (GRCm39)	S446P	possibly damaging	Het
Gnb1	T	A	4: 155,636,146 (GRCm39)	N155K	probably benign	Het
Heatr5a	A	G	12: 51,971,955 (GRCm39)	L745P	probably damaging	Het
Kcng3	T	A	17: 83,895,812 (GRCm39)		probably benign	Het
Kif15	A	T	9: 122,828,350 (GRCm39)	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,135,397 (GRCm39)		probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Kifc2	G	T	15: 76,551,300 (GRCm39)	C613F	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,381,520 (GRCm39)	I3826N	probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,093,913 (GRCm39)	S2006P	probably damaging	Het
Or51m1	T	C	7: 103,578,708 (GRCm39)	V226A	probably benign	Het
Pax4	T	C	6: 28,442,448 (GRCm39)	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,455,137 (GRCm39)	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,367,405 (GRCm39)	G768S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Poteg	A	G	8: 27,952,105 (GRCm39)		probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Rhobtb2	T	C	14: 70,026,137 (GRCm39)	T602A	probably benign	Het
Samd3	G	A	10: 26,147,398 (GRCm39)		probably benign	Het
Sbno2	A	C	10: 79,894,174 (GRCm39)		probably benign	Het
Sec1	A	G	7: 45,328,759 (GRCm39)	V96A	probably benign	Het
Senp7	A	C	16: 55,973,933 (GRCm39)	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Sgpl1	A	T	10: 60,938,392 (GRCm39)	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,779,618 (GRCm39)	I66T	probably benign	Het
Stra6	G	A	9: 58,058,752 (GRCm39)		probably null	Het
Tfrc	T	A	16: 32,434,214 (GRCm39)		probably null	Het
Tmem30b	T	C	12: 73,592,779 (GRCm39)	Y112C	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trpc1	A	G	9: 95,631,814 (GRCm39)	S43P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,322,292 (GRCm39)	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,314,738 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,435 (GRCm39)	W364R	probably damaging	Het
Wnk2	G	T	13: 49,221,556 (GRCm39)	T377K	possibly damaging	Het
Zfta	C	A	19: 7,397,724 (GRCm39)	H90Q	probably damaging	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGATGCACACACTGTGGTC -3'
(R):5'- TGAAAAGAGAGCCTTTGCTGAGCC -3'

Sequencing Primer
(F):5'- GTCGCAGCCTTTGGACTC -3'
(R):5'- TTTGCTGAGCCACCCTGAG -3'

Posted On

2014-07-02