Mutagenetix > Incidental Mutation

Incidental Mutation 'R8935:Haspin'

680585

Institutional Source

Beutler Lab

Gene Symbol

Haspin

Ensembl Gene

ENSMUSG00000050107

Gene Name

histone H3 associated protein kinase

Synonyms

Gsg2

MMRRC Submission

068778-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R8935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73026311-73029120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73026890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 733 (F733S)

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: F733S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: F733S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	G	T	8: 117,698,181 (GRCm39)	Q309K	probably benign	Het
Adam20	T	C	8: 41,247,989 (GRCm39)	V33A	probably benign	Het
Ank	T	C	15: 27,591,112 (GRCm39)	V417A	probably damaging	Het
Arhgef17	C	T	7: 100,527,324 (GRCm39)	V779I	probably benign	Het
Atp6v0a1	T	A	11: 100,929,519 (GRCm39)	F440I	possibly damaging	Het
Brca2	T	G	5: 150,492,446 (GRCm39)	S3154A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cep128	C	T	12: 91,233,770 (GRCm39)	E433K	probably damaging	Het
Cep192	C	T	18: 67,995,543 (GRCm39)	T970I	probably damaging	Het
Chd2	T	C	7: 73,153,210 (GRCm39)	T249A	possibly damaging	Het
Cpd	C	T	11: 76,731,295 (GRCm39)	G304S	probably damaging	Het
Cpsf7	T	A	19: 10,509,345 (GRCm39)	Y85*	probably null	Het
Csf3r	T	A	4: 125,937,200 (GRCm39)	S695T	probably benign	Het
Cyp20a1	A	G	1: 60,410,473 (GRCm39)	Q258R	probably damaging	Het
Ddi2	A	T	4: 141,412,600 (GRCm39)	L104Q	probably damaging	Het
Dpp8	T	C	9: 64,983,066 (GRCm39)	S733P	possibly damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Elapor2	C	T	5: 9,491,764 (GRCm39)	T708M	probably damaging	Het
Fgfr3	A	C	5: 33,892,810 (GRCm39)	D752A	probably damaging	Het
Fmod	C	A	1: 133,968,586 (GRCm39)	H209N	probably benign	Het
Gde1	C	T	7: 118,297,914 (GRCm39)	E101K	possibly damaging	Het
Gldc	C	T	19: 30,109,093 (GRCm39)	R615Q	probably benign	Het
Gli2	T	C	1: 118,764,122 (GRCm39)	E1343G	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm4847	A	G	1: 166,469,789 (GRCm39)	Y95H	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gtpbp3	A	G	8: 71,945,181 (GRCm39)		probably null	Het
Hgh1	C	G	15: 76,254,592 (GRCm39)	R323G	probably damaging	Het
Idh1	A	T	1: 65,204,378 (GRCm39)	I244N	probably damaging	Het
Idh2	T	C	7: 79,764,946 (GRCm39)	T27A	probably benign	Het
Igkv4-69	T	C	6: 69,260,912 (GRCm39)	T72A	possibly damaging	Het
Lmntd1	A	G	6: 145,489,229 (GRCm39)	Y11H	probably benign	Het
Myt1l	T	C	12: 29,877,243 (GRCm39)	M298T	unknown	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nfya	A	T	17: 48,700,294 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,767,586 (GRCm39)	D180G	probably damaging	Het
Or10ag60	A	G	2: 87,438,421 (GRCm39)	T230A	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,244 (GRCm39)	Q127L	unknown	Het
Osbpl6	T	C	2: 76,379,800 (GRCm39)	V130A	possibly damaging	Het
Prss44	T	A	9: 110,645,527 (GRCm39)	I94N	probably damaging	Het
Rbm6	C	T	9: 107,677,945 (GRCm39)	V15I	probably benign	Het
Rdh19	C	T	10: 127,685,929 (GRCm39)	L14F	possibly damaging	Het
Rtkn	T	C	6: 83,115,196 (GRCm39)	L14P	probably damaging	Het
Ryr3	A	T	2: 112,508,402 (GRCm39)	N3405K	probably benign	Het
Scp2	T	C	4: 107,950,072 (GRCm39)	E179G	probably damaging	Het
Sema3e	A	T	5: 14,282,127 (GRCm39)	K421I	probably damaging	Het
Sorcs2	C	T	5: 36,193,202 (GRCm39)	V755M	possibly damaging	Het
Spef2	T	C	15: 9,607,436 (GRCm39)	I1328V	probably damaging	Het
Speg	A	T	1: 75,399,250 (GRCm39)	K2232N	probably benign	Het
St7l	A	G	3: 104,778,204 (GRCm39)	I114V	probably damaging	Het
Stkld1	C	T	2: 26,833,941 (GRCm39)	Q143*	probably null	Het
Stox2	T	C	8: 47,645,895 (GRCm39)	T586A	possibly damaging	Het
Supt20	A	G	3: 54,634,988 (GRCm39)		probably null	Het
Tectb	G	T	19: 55,183,132 (GRCm39)	V338L	probably benign	Het
Tiam1	T	C	16: 89,681,821 (GRCm39)	N386D	probably damaging	Het
Trps1	G	A	15: 50,752,344 (GRCm39)	Q2*	probably null	Het
Usp36	C	T	11: 118,167,657 (GRCm39)		probably null	Het
Vmn1r198	C	T	13: 22,539,092 (GRCm39)	Q104*	probably null	Het
Vmn1r38	T	C	6: 66,753,979 (GRCm39)	T46A	probably benign	Het
Vmn2r110	A	G	17: 20,803,957 (GRCm39)	V206A	probably benign	Het
Vmn2r62	T	A	7: 42,437,791 (GRCm39)	D231V	probably benign	Het
Zfp143	T	C	7: 109,669,736 (GRCm39)	L55P	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
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
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
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'- GAACTCTTAAGGATGTGCTTTCACC -3'
(R):5'- GTGATATCTCCGCTGAAGAGG -3'

Sequencing Primer
(F):5'- ACCTCCATCTGGCTCTAGTGG -3'
(R):5'- GACTACCAGTTTGAGATCTACAGGC -3'

Posted On

2021-08-31