Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00674:Mark1'

11908

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 #

IGL00674

Quality Score

Status

Chromosome

Chromosomal Location

184628986-184731767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 184644303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 454 (G454S)

Ref Sequence

ENSEMBL: ENSMUSP00000027929 (fasta)

Gene Model

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

AlphaFold

Q8VHJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000027929
AA Change: G454S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: G454S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	T	A	15: 57,971,782 (GRCm39)	Q365L	possibly damaging	Het
Cd2ap	A	T	17: 43,119,676 (GRCm39)	N492K	probably benign	Het
Fam114a1	T	A	5: 65,137,347 (GRCm39)	S97T	probably benign	Het
Fbxw8	C	T	5: 118,233,658 (GRCm39)	M324I	possibly damaging	Het
Gpx6	A	G	13: 21,497,978 (GRCm39)		probably benign	Het
Kbtbd3	A	G	9: 4,329,949 (GRCm39)	T108A	probably benign	Het
Lrrd1	T	C	5: 3,899,773 (GRCm39)	I26T	possibly damaging	Het
Mrpl20	T	C	4: 155,893,041 (GRCm39)	F91L	probably benign	Het
Nt5c3b	A	T	11: 100,323,735 (GRCm39)		probably benign	Het
Osbpl2	T	C	2: 179,792,051 (GRCm39)	Y252H	possibly damaging	Het
Pard3	A	G	8: 128,115,159 (GRCm39)	N626D	probably damaging	Het
Pbrm1	C	T	14: 30,840,733 (GRCm39)	P1612S	probably damaging	Het
Prl3d3	T	C	13: 27,343,114 (GRCm39)		probably null	Het
Sall4	T	C	2: 168,597,700 (GRCm39)	D380G	probably damaging	Het
Sema3b	A	C	9: 107,481,240 (GRCm39)		probably null	Het
Spred1	C	T	2: 117,008,339 (GRCm39)	P415L	probably damaging	Het
Tnc	T	A	4: 63,883,844 (GRCm39)	D1958V	probably damaging	Het
Tnfsf15	A	G	4: 63,652,483 (GRCm39)		probably benign	Het
Usp24	T	A	4: 106,229,876 (GRCm39)		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
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
IGL03189:Mark1	APN	1	184,651,890 (GRCm39)	missense	probably damaging	0.96
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

2012-12-06