Mutagenetix > Incidental Mutation

Incidental Mutation 'R3841:Mok'

474379

Institutional Source

Beutler Lab

Gene Symbol

Mok

Ensembl Gene

ENSMUSG00000056458

Gene Name

MOK protein kinase

Synonyms

Rage, Stk30, MOK, MAPK/MAK/MRK/ overlapping kinase

MMRRC Submission

040781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R3841 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110774232-110807373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110781591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 59 (V59M)

Ref Sequence

ENSEMBL: ENSMUSP00000135791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070565] [ENSMUST00000084974] [ENSMUST00000177224]

AlphaFold

Q9WVS4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021701

Predicted Effect

silent
Transcript: ENSMUST00000070565

SMART Domains

Protein: ENSMUSP00000068904
Gene: ENSMUSG00000056458

Domain	Start	End	E-Value	Type
S_TKc	4	285	6.78e-85	SMART

Predicted Effect

silent
Transcript: ENSMUST00000084974

SMART Domains

Protein: ENSMUSP00000082041
Gene: ENSMUSG00000056458

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	138	8.4e-20	PFAM
Pfam:Pkinase	1	168	4.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177224
AA Change: V59M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000135791
Gene: ENSMUSG00000056458
AA Change: V59M

Domain	Start	End	E-Value	Type
Pfam:Pkinase	4	70	2e-6	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

98% (43/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,104 (GRCm39)	K11N	probably benign	Het
Atp8b3	A	G	10: 80,365,540 (GRCm39)	F405L	possibly damaging	Het
BC035947	G	T	1: 78,474,482 (GRCm39)	N683K	probably benign	Het
Bmper	T	A	9: 23,384,727 (GRCm39)		probably null	Het
Btnl7-ps	A	G	17: 34,761,550 (GRCm39)		noncoding transcript	Het
Cmya5	A	G	13: 93,231,140 (GRCm39)	V1316A	probably damaging	Het
Cracd	A	T	5: 77,006,858 (GRCm39)	Q1073L	unknown	Het
Dgcr6	C	A	16: 17,888,077 (GRCm39)	Y200*	probably null	Het
Dsp	A	C	13: 38,381,681 (GRCm39)	I2210L	probably benign	Het
Eef1e1	G	A	13: 38,840,167 (GRCm39)	T46I	probably damaging	Het
Epc2	A	G	2: 49,378,750 (GRCm39)	K68R	probably damaging	Het
F11r	G	T	1: 171,288,457 (GRCm39)	R100L	probably damaging	Het
Fam83c	C	T	2: 155,676,668 (GRCm39)	R34H	probably benign	Het
Fbxw25	A	T	9: 109,491,202 (GRCm39)	Y105*	probably null	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Hipk2	T	C	6: 38,795,861 (GRCm39)	E136G	probably damaging	Het
Hsph1	T	A	5: 149,544,180 (GRCm39)		probably null	Het
Impdh1	A	G	6: 29,202,768 (GRCm39)	S421P	probably damaging	Het
Jhy	T	A	9: 40,856,142 (GRCm39)	E115V	probably benign	Het
Kmt2a	T	C	9: 44,742,588 (GRCm39)		probably benign	Het
Ldlrap1	T	C	4: 134,477,747 (GRCm39)	T159A	probably damaging	Het
Lrrc4c	A	G	2: 97,460,537 (GRCm39)	T388A	probably damaging	Het
Map3k10	C	A	7: 27,357,789 (GRCm39)	C663F	possibly damaging	Het
Me3	A	T	7: 89,435,701 (GRCm39)	N179Y	possibly damaging	Het
Medag	T	A	5: 149,350,888 (GRCm39)	I121N	probably damaging	Het
Mocos	C	T	18: 24,809,681 (GRCm39)	A428V	probably damaging	Het
Neb	C	A	2: 52,097,672 (GRCm39)		probably null	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or52s1	G	A	7: 102,861,900 (GRCm39)	G267R	probably damaging	Het
Or6c35	A	G	10: 129,169,202 (GRCm39)	I151V	probably benign	Het
Otud1	G	T	2: 19,663,554 (GRCm39)	E228*	probably null	Het
Parp4	A	T	14: 56,825,235 (GRCm39)	N120Y	probably damaging	Het
Ptprb	T	C	10: 116,182,887 (GRCm39)	V1521A	possibly damaging	Het
Rap1gap	T	C	4: 137,444,758 (GRCm39)	F182S	probably damaging	Het
Rcan2	A	G	17: 44,347,870 (GRCm39)	K193R	probably benign	Het
Rdh19	A	T	10: 127,692,755 (GRCm39)	M141L	probably benign	Het
Selenok	C	T	14: 29,695,337 (GRCm39)	R72*	probably null	Het
Tbpl1	A	G	10: 22,587,807 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,917,897 (GRCm39)	E2270G	possibly damaging	Het
Tulp1	A	G	17: 28,572,689 (GRCm39)	V489A	probably damaging	Het
Utp20	A	T	10: 88,611,065 (GRCm39)		probably benign	Het
Zfp617	G	A	8: 72,685,961 (GRCm39)	G97E	probably damaging	Het
Zfp773	A	G	7: 7,135,390 (GRCm39)	V402A	possibly damaging	Het

Other mutations in Mok

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Mok	APN	12	110,774,631 (GRCm39)	unclassified	probably benign
IGL01925:Mok	APN	12	110,774,646 (GRCm39)	missense	probably benign	0.15
IGL02660:Mok	APN	12	110,794,499 (GRCm39)	missense	probably damaging	0.99
R0256:Mok	UTSW	12	110,774,539 (GRCm39)	missense	probably damaging	1.00
R1797:Mok	UTSW	12	110,774,479 (GRCm39)	missense	probably benign	0.28
R2022:Mok	UTSW	12	110,778,257 (GRCm39)	missense	probably benign	0.00
R2175:Mok	UTSW	12	110,781,634 (GRCm39)	missense	probably benign	0.01
R3840:Mok	UTSW	12	110,781,591 (GRCm39)	missense	probably benign	0.04
R4645:Mok	UTSW	12	110,774,873 (GRCm39)	unclassified	probably benign
R5711:Mok	UTSW	12	110,774,503 (GRCm39)	missense	probably damaging	1.00
R6084:Mok	UTSW	12	110,781,380 (GRCm39)	missense	probably benign	0.01
R6336:Mok	UTSW	12	110,800,558 (GRCm39)	critical splice donor site	probably null
R6544:Mok	UTSW	12	110,777,189 (GRCm39)	missense	probably damaging	1.00
R7403:Mok	UTSW	12	110,781,563 (GRCm39)	critical splice donor site	probably null
R7557:Mok	UTSW	12	110,774,833 (GRCm39)	missense	probably benign
R7789:Mok	UTSW	12	110,778,261 (GRCm39)	missense	probably damaging	1.00
R8011:Mok	UTSW	12	110,781,351 (GRCm39)	utr 3 prime	probably benign
R8169:Mok	UTSW	12	110,774,799 (GRCm39)	missense	probably benign	0.00
R8487:Mok	UTSW	12	110,776,341 (GRCm39)	critical splice donor site	probably null
R9437:Mok	UTSW	12	110,774,659 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2017-04-14