Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Mark1'

412563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mark1

Ensembl Gene

ENSMUSG00000026620

Gene Name

MAP/microtubule affinity regulating kinase 1

Synonyms

Emk3, B930025N23Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

184628986-184731767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 184651890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 95 (N95S)

Ref Sequence

ENSEMBL: ENSMUSP00000142314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027929] [ENSMUST00000192657]

AlphaFold

Q8VHJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000027929
AA Change: N205S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: N205S

Domain	Start	End	E-Value	Type
S_TKc	60	311	1.12e-108	SMART
low complexity region	316	328	N/A	INTRINSIC
UBA	332	369	4.56e-9	SMART
low complexity region	376	386	N/A	INTRINSIC
low complexity region	523	547	N/A	INTRINSIC
low complexity region	585	599	N/A	INTRINSIC
Pfam:KA1	751	795	4.5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192657
AA Change: N95S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142314
Gene: ENSMUSG00000026620
AA Change: N95S

Domain	Start	End	E-Value	Type
S_TKc	1	152	3.8e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192968

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Ift56	C	T	6: 38,402,166 (GRCm39)	P553S	probably benign	Het
Iqgap1	T	A	7: 80,363,590 (GRCm39)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Otud7b	G	A	3: 96,062,795 (GRCm39)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,386,895 (GRCm39)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm39)	I55T	probably benign	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,893,672 (GRCm39)	T602I	probably benign	Het

Other mutations in Mark1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Mark1	APN	1	184,630,800 (GRCm39)	missense	probably damaging	1.00
IGL00674:Mark1	APN	1	184,644,303 (GRCm39)	missense	probably benign
IGL01903:Mark1	APN	1	184,661,577 (GRCm39)	splice site	probably benign
IGL02004:Mark1	APN	1	184,644,786 (GRCm39)	missense	possibly damaging	0.82
IGL03177:Mark1	APN	1	184,677,104 (GRCm39)	missense	probably damaging	1.00
IGL03391:Mark1	APN	1	184,651,632 (GRCm39)	unclassified	probably benign
R0277:Mark1	UTSW	1	184,677,149 (GRCm39)	missense	possibly damaging	0.89
R0744:Mark1	UTSW	1	184,653,805 (GRCm39)	missense	probably damaging	1.00
R0973:Mark1	UTSW	1	184,653,801 (GRCm39)	missense	probably damaging	1.00
R1331:Mark1	UTSW	1	184,660,245 (GRCm39)	missense	probably damaging	1.00
R2061:Mark1	UTSW	1	184,660,260 (GRCm39)	missense	probably damaging	1.00
R2136:Mark1	UTSW	1	184,651,770 (GRCm39)	missense	probably damaging	1.00
R2306:Mark1	UTSW	1	184,633,058 (GRCm39)	splice site	probably benign
R3159:Mark1	UTSW	1	184,640,584 (GRCm39)	missense	probably damaging	1.00
R3905:Mark1	UTSW	1	184,640,632 (GRCm39)	splice site	probably null
R4321:Mark1	UTSW	1	184,630,871 (GRCm39)	missense	possibly damaging	0.46
R4512:Mark1	UTSW	1	184,639,286 (GRCm39)	missense	probably benign	0.21
R4715:Mark1	UTSW	1	184,644,329 (GRCm39)	missense	probably benign	0.00
R4829:Mark1	UTSW	1	184,637,724 (GRCm39)	missense	possibly damaging	0.82
R5163:Mark1	UTSW	1	184,637,807 (GRCm39)	missense	probably damaging	0.98
R5222:Mark1	UTSW	1	184,660,288 (GRCm39)	missense	probably damaging	1.00
R5680:Mark1	UTSW	1	184,677,013 (GRCm39)	missense	probably damaging	1.00
R6582:Mark1	UTSW	1	184,644,786 (GRCm39)	missense	possibly damaging	0.82
R6943:Mark1	UTSW	1	184,630,984 (GRCm39)	missense	probably damaging	1.00
R6979:Mark1	UTSW	1	184,644,825 (GRCm39)	missense	possibly damaging	0.77
R7031:Mark1	UTSW	1	184,644,829 (GRCm39)	missense	possibly damaging	0.82
R7455:Mark1	UTSW	1	184,651,947 (GRCm39)	missense	probably damaging	0.99
R7470:Mark1	UTSW	1	184,660,241 (GRCm39)	nonsense	probably null
R7715:Mark1	UTSW	1	184,639,431 (GRCm39)	missense	probably damaging	0.98
R8193:Mark1	UTSW	1	184,660,249 (GRCm39)	missense	probably damaging	0.99
R8474:Mark1	UTSW	1	184,651,783 (GRCm39)	missense	probably damaging	1.00
R9114:Mark1	UTSW	1	184,644,261 (GRCm39)	missense	probably damaging	0.99
R9336:Mark1	UTSW	1	184,648,345 (GRCm39)	missense	possibly damaging	0.91
R9366:Mark1	UTSW	1	184,653,792 (GRCm39)	missense	probably damaging	1.00
R9462:Mark1	UTSW	1	184,651,868 (GRCm39)	missense	probably damaging	0.99
R9582:Mark1	UTSW	1	184,651,858 (GRCm39)	missense	possibly damaging	0.93
R9627:Mark1	UTSW	1	184,646,817 (GRCm39)	missense	probably benign	0.15

Posted On

2016-08-02