Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Haspin'

418224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Haspin

Ensembl Gene

ENSMUSG00000050107

Gene Name

histone H3 associated protein kinase

Synonyms

Gsg2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

73026311-73029120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73027451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 546 (R546Q)

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: R546Q

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

SMART Domains

Protein: ENSMUSP00000055806
Gene: ENSMUSG00000050107
AA Change: R546Q

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,210 (GRCm39)	L299R	unknown	Het
Abca9	T	G	11: 110,035,087 (GRCm39)	R693S	probably benign	Het
Adamts20	A	T	15: 94,227,795 (GRCm39)		probably null	Het
Afg1l	T	A	10: 42,302,493 (GRCm39)	D169V	probably damaging	Het
Agbl1	T	A	7: 76,369,890 (GRCm39)	M663K	probably benign	Het
Angpt2	T	A	8: 18,791,039 (GRCm39)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,030,424 (GRCm39)	E160K	probably null	Het
As3mt	G	T	19: 46,696,233 (GRCm39)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,791,171 (GRCm39)		probably benign	Het
Atp6v0d1	T	A	8: 106,257,591 (GRCm39)	I113F	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,801,881 (GRCm39)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,713,453 (GRCm39)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm39)	N721K	probably damaging	Het
Cercam	A	G	2: 29,771,699 (GRCm39)		probably benign	Het
Clpb	T	A	7: 101,434,656 (GRCm39)	L484*	probably null	Het
Creb3l1	T	A	2: 91,825,739 (GRCm39)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,625,327 (GRCm39)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 61,043,874 (GRCm39)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 106,938,225 (GRCm39)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,507,588 (GRCm39)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,600,411 (GRCm39)	S419A	probably benign	Het
Elapor1	A	G	3: 108,443,674 (GRCm39)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,655,543 (GRCm39)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,110,498 (GRCm39)	H842L	unknown	Het
Fn1	A	T	1: 71,653,197 (GRCm39)		probably null	Het
Fos	A	C	12: 85,522,630 (GRCm39)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,679,669 (GRCm39)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Gsta4	T	C	9: 78,113,345 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,893,362 (GRCm39)	T34S	probably benign	Het
Itgad	G	A	7: 127,802,204 (GRCm39)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,774,884 (GRCm39)	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,634,455 (GRCm39)	R762S	probably benign	Het
Klf4	C	A	4: 55,530,758 (GRCm39)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm39)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,504,802 (GRCm39)	E3502G	probably damaging	Het
Krt8	A	G	15: 101,909,022 (GRCm39)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,287,649 (GRCm39)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,810,575 (GRCm39)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,009,082 (GRCm39)	V844M	possibly damaging	Het
Map10	G	A	8: 126,397,809 (GRCm39)	E401K	probably benign	Het
Mark4	A	T	7: 19,185,509 (GRCm39)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,910,945 (GRCm39)	M81R	probably damaging	Het
Mup3	A	G	4: 62,005,079 (GRCm39)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,404,769 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,970,476 (GRCm39)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,574,121 (GRCm39)		probably null	Het
Nos1	C	A	5: 118,005,323 (GRCm39)	N14K	probably damaging	Het
Nova2	G	T	7: 18,684,494 (GRCm39)	V116F	unknown	Het
Obox3	G	A	7: 15,360,927 (GRCm39)		probably benign	Het
Or10h1	A	T	17: 33,418,534 (GRCm39)	T171S	probably benign	Het
Or2t46	T	A	11: 58,472,653 (GRCm39)		probably benign	Het
Or5v1	A	G	17: 37,809,539 (GRCm39)		probably benign	Het
Or8b50	A	T	9: 38,518,597 (GRCm39)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,056,446 (GRCm39)		probably benign	Het
Parvb	T	A	15: 84,193,044 (GRCm39)		probably benign	Het
Popdc2	A	T	16: 38,194,184 (GRCm39)	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,692,725 (GRCm39)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,740,058 (GRCm39)	L484M	probably damaging	Het
Septin14	A	G	5: 129,774,797 (GRCm39)		probably benign	Het
Slf1	A	G	13: 77,232,554 (GRCm39)	C517R	probably damaging	Het
Smyd3	A	G	1: 178,921,898 (GRCm39)		probably null	Het
Snx9	A	G	17: 5,974,885 (GRCm39)	T458A	probably benign	Het
Srgap1	T	C	10: 121,661,598 (GRCm39)	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,682,308 (GRCm39)	S311P	probably damaging	Het
Timd6	C	A	11: 46,475,244 (GRCm39)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,234,076 (GRCm39)	K91N	probably damaging	Het
Traf3	T	A	12: 111,228,277 (GRCm39)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,443,825 (GRCm39)	G178C	probably damaging	Het
Vav2	T	C	2: 27,157,262 (GRCm39)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,742,301 (GRCm39)	H225L	probably benign	Het
Wrn	A	T	8: 33,758,851 (GRCm39)		probably benign	Het
Xpo7	T	G	14: 70,918,702 (GRCm39)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,662,417 (GRCm39)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,378,592 (GRCm39)	I197N	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
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
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

Posted On

2016-08-02