Mutagenetix > Incidental Mutation

Incidental Mutation 'R5222:Mark1'

402353

Institutional Source

Beutler Lab

Gene Symbol

Mark1

Ensembl Gene

ENSMUSG00000026620

Gene Name

MAP/microtubule affinity regulating kinase 1

Synonyms

Emk3, B930025N23Rik

MMRRC Submission

042795-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R5222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

184896789-184999570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 184928091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 123 (F123I)

Ref Sequence

ENSEMBL: ENSMUSP00000027929 (fasta)

Gene Model

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

AlphaFold

Q8VHJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027929
AA Change: F123I

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

SMART Domains

Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: F123I

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 benign
Transcript: ENSMUST00000192657
AA Change: F13I

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142314
Gene: ENSMUSG00000026620
AA Change: F13I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192968

Meta Mutation Damage Score

0.5396

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	C	A	1: 160,044,608		noncoding transcript	Het
Acad11	G	A	9: 104,097,377	A515T	probably damaging	Het
Angpt1	T	C	15: 42,676,334	Y43C	probably damaging	Het
Arhgef33	A	G	17: 80,337,314	Y24C	probably damaging	Het
Cd40	G	C	2: 165,066,544	S180T	probably benign	Het
Cenpc1	A	T	5: 86,037,747	S302T	possibly damaging	Het
Cit	C	A	5: 115,952,543	T932K	probably benign	Het
Col19a1	A	C	1: 24,559,640		probably null	Het
Dapk3	A	G	10: 81,192,460	E288G	probably damaging	Het
Ddx60	T	C	8: 61,984,158	F1002S	probably damaging	Het
Dgke	G	T	11: 89,050,394	T321K	probably benign	Het
Ebf2	T	G	14: 67,313,594		probably benign	Het
Enpp7	A	G	11: 118,990,962	D311G	probably benign	Het
Epm2a	A	G	10: 11,448,749	E194G	probably damaging	Het
Esf1	A	G	2: 140,158,583	Y428H	possibly damaging	Het
Esyt2	T	C	12: 116,318,826	F132S	probably damaging	Het
Gm13101	T	A	4: 143,964,792	I454F	possibly damaging	Het
Gm5455	T	C	13: 110,304,960		noncoding transcript	Het
Gria1	T	A	11: 57,189,797	V202E	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Nectin4	T	A	1: 171,385,257		probably null	Het
Obscn	T	A	11: 59,044,145	T5220S	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1370	T	A	13: 21,072,569	H244L	probably damaging	Het
Olfr166	A	C	16: 19,486,930	I31L	probably benign	Het
Pdcd1	A	T	1: 94,052,450	V14E	probably damaging	Het
Pmel	A	G	10: 128,718,984		probably null	Het
Prrx1	C	T	1: 163,261,973	R95Q	probably damaging	Het
Pstpip2	T	A	18: 77,874,332	Y267*	probably null	Het
Ptprq	A	G	10: 107,662,564	I884T	probably damaging	Het
Rad17	G	A	13: 100,633,891	T216I	possibly damaging	Het
Rif1	T	C	2: 52,077,020	I107T	probably benign	Het
Rpp14	T	C	14: 8,087,513	L69P	probably damaging	Het
Rtel1	G	T	2: 181,346,983		probably benign	Het
Sap130	C	T	18: 31,666,703	T362M	probably damaging	Het
Scn11a	A	G	9: 119,815,202		probably null	Het
Sec31a	G	T	5: 100,382,895	T243N	probably benign	Het
Slc5a9	T	A	4: 111,898,611	H30L	possibly damaging	Het
Slco6b1	T	A	1: 96,997,491		noncoding transcript	Het
Smarca4	A	G	9: 21,655,706	D694G	probably benign	Het
Spaca6	A	G	17: 17,838,105	T213A	probably benign	Het
Tagap	C	A	17: 7,933,641	Q553K	possibly damaging	Het
Tagap	A	T	17: 7,933,642	Q553L	possibly damaging	Het
Tcf7l2	A	G	19: 55,898,612	Q19R	probably benign	Het
Ttn	A	G	2: 76,878,853		probably benign	Het
Ubr7	A	T	12: 102,775,705	R399S	probably benign	Het
Uspl1	C	A	5: 149,214,101	Q690K	possibly damaging	Het
Vps8	T	A	16: 21,581,548	Y853*	probably null	Het
Vrk3	A	T	7: 44,759,796	Q129L	possibly damaging	Het
Wapl	T	A	14: 34,736,685	C901*	probably null	Het

Other mutations in Mark1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Mark1	APN	1	184898603	missense	probably damaging	1.00
IGL00674:Mark1	APN	1	184912106	missense	probably benign
IGL01903:Mark1	APN	1	184929380	splice site	probably benign
IGL02004:Mark1	APN	1	184912589	missense	possibly damaging	0.82
IGL03177:Mark1	APN	1	184944907	missense	probably damaging	1.00
IGL03189:Mark1	APN	1	184919693	missense	probably damaging	0.96
IGL03391:Mark1	APN	1	184919435	unclassified	probably benign
R0277:Mark1	UTSW	1	184944952	missense	possibly damaging	0.89
R0744:Mark1	UTSW	1	184921608	missense	probably damaging	1.00
R0973:Mark1	UTSW	1	184921604	missense	probably damaging	1.00
R1331:Mark1	UTSW	1	184928048	missense	probably damaging	1.00
R2061:Mark1	UTSW	1	184928063	missense	probably damaging	1.00
R2136:Mark1	UTSW	1	184919573	missense	probably damaging	1.00
R2306:Mark1	UTSW	1	184900861	splice site	probably benign
R3159:Mark1	UTSW	1	184908387	missense	probably damaging	1.00
R3905:Mark1	UTSW	1	184908435	splice site	probably null
R4321:Mark1	UTSW	1	184898674	missense	possibly damaging	0.46
R4512:Mark1	UTSW	1	184907089	missense	probably benign	0.21
R4715:Mark1	UTSW	1	184912132	missense	probably benign	0.00
R4829:Mark1	UTSW	1	184905527	missense	possibly damaging	0.82
R5163:Mark1	UTSW	1	184905610	missense	probably damaging	0.98
R5680:Mark1	UTSW	1	184944816	missense	probably damaging	1.00
R6582:Mark1	UTSW	1	184912589	missense	possibly damaging	0.82
R6943:Mark1	UTSW	1	184898787	missense	probably damaging	1.00
R6979:Mark1	UTSW	1	184912628	missense	possibly damaging	0.77
R7031:Mark1	UTSW	1	184912632	missense	possibly damaging	0.82
R7455:Mark1	UTSW	1	184919750	missense	probably damaging	0.99
R7470:Mark1	UTSW	1	184928044	nonsense	probably null
R7715:Mark1	UTSW	1	184907234	missense	probably damaging	0.98
R8193:Mark1	UTSW	1	184928052	missense	probably damaging	0.99
R8474:Mark1	UTSW	1	184919586	missense	probably damaging	1.00
R9114:Mark1	UTSW	1	184912064	missense	probably damaging	0.99
R9336:Mark1	UTSW	1	184916148	missense	possibly damaging	0.91
R9366:Mark1	UTSW	1	184921595	missense	probably damaging	1.00
R9462:Mark1	UTSW	1	184919671	missense	probably damaging	0.99
R9582:Mark1	UTSW	1	184919661	missense	possibly damaging	0.93
R9627:Mark1	UTSW	1	184914620	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TTGTGATGAGGCCATTCAAGG -3'
(R):5'- AGACTGCAGACCACTTTGTG -3'

Sequencing Primer
(F):5'- TGAGGCCATTCAAGGATATGTTAG -3'
(R):5'- AAGTAGTTTCCTTGCATGGGAG -3'

Posted On

2016-07-22