Mutagenetix > Incidental Mutation

Incidental Mutation 'R9582:Mark1'

722582

Institutional Source

Beutler Lab

Gene Symbol

Mark1

Ensembl Gene

ENSMUSG00000026620

Gene Name

MAP/microtubule affinity regulating kinase 1

Synonyms

Emk3, B930025N23Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

184628986-184731767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 184651858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 216 (F216L)

Ref Sequence

ENSEMBL: ENSMUSP00000027929 (fasta)

Gene Model

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

AlphaFold

Q8VHJ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027929
AA Change: F216L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: F216L

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

possibly damaging
Transcript: ENSMUST00000192657
AA Change: F106L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142314
Gene: ENSMUSG00000026620
AA Change: F106L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,766 (GRCm39)	F652I	probably damaging	Het
Adam17	A	T	12: 21,386,665 (GRCm39)	I457K	probably benign	Het
Arpin	T	C	7: 79,585,038 (GRCm39)		probably benign	Het
Bhlhe40	A	G	6: 108,638,467 (GRCm39)	E51G	probably benign	Het
Ces1a	C	T	8: 93,766,156 (GRCm39)	D153N	probably benign	Het
Cog7	T	C	7: 121,536,200 (GRCm39)	M547V	probably benign	Het
Csrnp2	C	T	15: 100,386,067 (GRCm39)	R57K	possibly damaging	Het
Dact1	A	T	12: 71,365,619 (GRCm39)	K763M	probably damaging	Het
Ddost	A	T	4: 138,035,583 (GRCm39)	I101F	possibly damaging	Het
Dyrk1b	C	T	7: 27,882,028 (GRCm39)	R130W	probably damaging	Het
Ep400	A	C	5: 110,824,315 (GRCm39)		probably null	Het
Fam227a	A	G	15: 79,501,978 (GRCm39)	V532A	probably benign	Het
Flnc	C	A	6: 29,460,736 (GRCm39)	T2609K	probably damaging	Het
Gbp10	A	G	5: 105,372,256 (GRCm39)	V168A	probably benign	Het
Gp5	A	G	16: 30,127,057 (GRCm39)	V539A	probably benign	Het
H2-T13	T	A	17: 36,392,375 (GRCm39)	R33S	unknown	Het
Itih5	A	G	2: 10,195,013 (GRCm39)	E135G	probably benign	Het
L2hgdh	A	G	12: 69,739,172 (GRCm39)	V433A	probably benign	Het
Leng9	A	G	7: 4,152,263 (GRCm39)	S138P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ly6g6e	T	C	17: 35,296,159 (GRCm39)	V10A	probably benign	Het
Lypla1	C	T	1: 4,911,248 (GRCm39)	P178S	probably benign	Het
Mertk	G	A	2: 128,624,527 (GRCm39)	R646Q	possibly damaging	Het
Mmp9	A	C	2: 164,791,235 (GRCm39)	D135A	probably benign	Het
Nefl	A	G	14: 68,324,849 (GRCm39)	K529E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nwd1	A	G	8: 73,421,917 (GRCm39)	T988A	probably damaging	Het
P4ha2	T	A	11: 54,022,065 (GRCm39)	C529*	probably null	Het
Pcdhb4	T	A	18: 37,441,417 (GRCm39)	F242L	probably damaging	Het
Pced1b	A	G	15: 97,282,450 (GRCm39)	N163S	probably damaging	Het
Pde8b	A	G	13: 95,169,369 (GRCm39)	V585A	probably damaging	Het
Pknox2	T	A	9: 36,804,252 (GRCm39)	T432S	probably damaging	Het
Rad18	A	G	6: 112,658,298 (GRCm39)		probably null	Het
Rpgrip1l	C	T	8: 91,996,886 (GRCm39)	V665I	probably benign	Het
Rreb1	A	G	13: 38,114,734 (GRCm39)	I698V	probably benign	Het
Schip1	TCTGGCC	TC	3: 68,525,060 (GRCm39)		probably null	Het
Slc2a4	C	T	11: 69,837,450 (GRCm39)	V32M	probably damaging	Het
Slc40a1	A	G	1: 45,950,499 (GRCm39)	Y318H	probably damaging	Het
Spag16	A	G	1: 69,897,717 (GRCm39)	T156A	probably benign	Het
Srebf1	C	A	11: 60,097,868 (GRCm39)	A103S	probably benign	Het
Sspn	C	T	6: 145,899,334 (GRCm39)		probably benign	Het
Stoml2	A	T	4: 43,030,238 (GRCm39)		probably null	Het
Stra6	T	A	9: 58,054,770 (GRCm39)	V319E	probably damaging	Het
Syt7	T	C	19: 10,416,780 (GRCm39)	F414L	probably damaging	Het
Tet3	G	T	6: 83,381,226 (GRCm39)	P314Q	probably damaging	Het
Tnrc18	A	T	5: 142,757,128 (GRCm39)	L1313Q		Het
Topors	A	T	4: 40,260,460 (GRCm39)	D941E	unknown	Het
Txnip	T	A	3: 96,465,659 (GRCm39)	C36*	probably null	Het
Uba3	A	T	6: 97,168,491 (GRCm39)	M178K	probably damaging	Het
Vmn1r6	A	G	6: 56,979,925 (GRCm39)	T196A	probably benign	Het
Vwc2	T	A	11: 11,066,129 (GRCm39)	S72R	probably benign	Het
Wnk2	A	G	13: 49,210,975 (GRCm39)	S1627P	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
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
R9627:Mark1	UTSW	1	184,646,817 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- AGCAGTTGACATTACCGCTCC -3'
(R):5'- TTTAAAATGAGAGGCATGCCCAAG -3'

Sequencing Primer
(F):5'- CTGCGGAAGGGGGTGTC -3'
(R):5'- GCATGCCCAAGTGTGCTTAGAATC -3'

Posted On

2022-08-09