Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02676:Mkx'

303128

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mkx

Ensembl Gene

ENSMUSG00000061013

Gene Name

mohawk homeobox

Synonyms

9430023B20Rik, Irxl1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02676

Quality Score

Status

Chromosome

Chromosomal Location

6934966-7004779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7000640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 101 (T101A)

Ref Sequence

ENSEMBL: ENSMUSP00000078718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079788]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079788
AA Change: T101A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078718
Gene: ENSMUSG00000061013
AA Change: T101A

Domain	Start	End	E-Value	Type
HOX	71	135	5.01e-4	SMART
low complexity region	158	171	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176757

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit thin, hypoplastic tendons with reduced tensile strength. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	G	A	18: 34,448,687 (GRCm39)	S1827N	probably damaging	Het
Atrnl1	T	A	19: 57,680,316 (GRCm39)	C739S	probably damaging	Het
Cep350	T	C	1: 155,737,977 (GRCm39)	E2622G	possibly damaging	Het
Chd5	C	T	4: 152,440,530 (GRCm39)		probably benign	Het
Chst11	T	A	10: 83,027,563 (GRCm39)	L330Q	probably damaging	Het
Clcnka	A	T	4: 141,120,094 (GRCm39)	V275E	probably damaging	Het
Clip4	G	A	17: 72,135,616 (GRCm39)	S456N	probably damaging	Het
Cmya5	A	T	13: 93,229,361 (GRCm39)	I1909N	probably damaging	Het
Cyp26b1	A	G	6: 84,553,626 (GRCm39)	I176T	probably damaging	Het
Dst	A	G	1: 34,346,668 (GRCm39)	R7717G	probably damaging	Het
Eml2	C	T	7: 18,918,846 (GRCm39)	R99*	probably null	Het
Fibin	T	C	2: 110,192,929 (GRCm39)	Q71R	probably benign	Het
Fsip2	T	G	2: 82,812,501 (GRCm39)	I2940S	possibly damaging	Het
Gabrb3	G	T	7: 57,241,112 (GRCm39)		probably benign	Het
Gfra1	G	A	19: 58,441,787 (GRCm39)	T48I	probably damaging	Het
Gm6483	C	T	8: 19,743,675 (GRCm39)		noncoding transcript	Het
Hdgfl1	G	A	13: 26,953,348 (GRCm39)	R242C	possibly damaging	Het
Hmcn1	T	C	1: 150,494,760 (GRCm39)	T4110A	probably benign	Het
Lama2	T	G	10: 26,994,489 (GRCm39)	M1807L	probably benign	Het
Larp4	T	C	15: 99,888,302 (GRCm39)	V113A	possibly damaging	Het
Nfe2l1	A	G	11: 96,718,491 (GRCm39)	F15L	probably damaging	Het
Nherf2	A	T	17: 24,860,930 (GRCm39)	V204E	probably damaging	Het
Nif3l1	G	A	1: 58,494,895 (GRCm39)		probably null	Het
Nop14	A	G	5: 34,796,565 (GRCm39)	V764A	probably damaging	Het
Nosip	C	A	7: 44,726,752 (GRCm39)	A259E	probably damaging	Het
Ntn5	T	C	7: 45,341,300 (GRCm39)		probably benign	Het
Or9g20	T	C	2: 85,629,934 (GRCm39)	I227V	possibly damaging	Het
Phospho1	G	A	11: 95,721,714 (GRCm39)	G128D	probably damaging	Het
Ppp4r3a	G	A	12: 101,008,770 (GRCm39)	T703M	probably benign	Het
Pramel21	T	C	4: 143,342,667 (GRCm39)	F258S	possibly damaging	Het
Pramel58	A	G	5: 94,831,730 (GRCm39)	T246A	possibly damaging	Het
Prdm8	G	A	5: 98,334,418 (GRCm39)	E662K	probably damaging	Het
Ralgapa1	A	G	12: 55,723,202 (GRCm39)	S1775P	probably damaging	Het
Rapgef6	T	C	11: 54,540,172 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,677,966 (GRCm39)	T87A	possibly damaging	Het
Scrn3	A	G	2: 73,160,215 (GRCm39)	Q286R	probably benign	Het
Sema3d	A	T	5: 12,620,945 (GRCm39)	Q517L	probably benign	Het
Taf6l	T	C	19: 8,752,413 (GRCm39)	Y425C	probably damaging	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tcf3	C	T	10: 80,256,925 (GRCm39)	G64R	probably damaging	Het
Tmco4	T	C	4: 138,750,380 (GRCm39)		probably null	Het
Trappc11	A	G	8: 47,946,448 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,025 (GRCm39)	I193F	possibly damaging	Het
Vmn2r14	G	A	5: 109,367,882 (GRCm39)	T370I	probably benign	Het
Vmn2r65	T	A	7: 84,589,381 (GRCm39)	H845L	possibly damaging	Het
Vmn2r98	A	T	17: 19,285,521 (GRCm39)	T114S	probably benign	Het
Zfp280d	A	T	9: 72,242,356 (GRCm39)	R661S	probably damaging	Het
Zranb1	T	C	7: 132,568,410 (GRCm39)	I356T	probably benign	Het

Other mutations in Mkx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Mkx	APN	18	6,937,192 (GRCm39)	missense	probably benign
IGL02478:Mkx	APN	18	7,002,418 (GRCm39)	missense	probably damaging	0.99
IGL02806:Mkx	APN	18	6,937,025 (GRCm39)	missense	probably damaging	1.00
R0766:Mkx	UTSW	18	6,937,192 (GRCm39)	missense	probably benign	0.05
R1273:Mkx	UTSW	18	7,002,460 (GRCm39)	missense	probably benign
R1312:Mkx	UTSW	18	6,937,192 (GRCm39)	missense	probably benign	0.05
R1496:Mkx	UTSW	18	6,992,330 (GRCm39)	nonsense	probably null
R2083:Mkx	UTSW	18	6,992,855 (GRCm39)	missense	probably damaging	0.99
R2196:Mkx	UTSW	18	7,000,675 (GRCm39)	missense	probably damaging	0.99
R3013:Mkx	UTSW	18	6,936,929 (GRCm39)	missense	probably damaging	0.99
R4544:Mkx	UTSW	18	7,000,651 (GRCm39)	missense	probably damaging	1.00
R4646:Mkx	UTSW	18	6,992,040 (GRCm39)	missense	probably benign	0.43
R4798:Mkx	UTSW	18	7,002,432 (GRCm39)	missense	probably benign
R4887:Mkx	UTSW	18	6,992,904 (GRCm39)	missense	probably damaging	1.00
R4945:Mkx	UTSW	18	7,000,657 (GRCm39)	missense	possibly damaging	0.76
R6129:Mkx	UTSW	18	6,992,888 (GRCm39)	missense	probably damaging	0.98
R6267:Mkx	UTSW	18	7,000,591 (GRCm39)	critical splice donor site	probably null
R6271:Mkx	UTSW	18	6,937,059 (GRCm39)	splice site	probably null
R6296:Mkx	UTSW	18	7,000,591 (GRCm39)	critical splice donor site	probably null
R6569:Mkx	UTSW	18	6,992,820 (GRCm39)	nonsense	probably null
R7165:Mkx	UTSW	18	7,002,525 (GRCm39)	missense	probably damaging	0.97
R7365:Mkx	UTSW	18	7,000,747 (GRCm39)	missense	possibly damaging	0.85
R7636:Mkx	UTSW	18	7,000,630 (GRCm39)	missense	possibly damaging	0.58
R7806:Mkx	UTSW	18	7,000,607 (GRCm39)	missense	probably benign	0.21
R8098:Mkx	UTSW	18	6,992,784 (GRCm39)	missense	possibly damaging	0.95
R9564:Mkx	UTSW	18	7,002,457 (GRCm39)	missense	probably benign
Z1088:Mkx	UTSW	18	6,936,975 (GRCm39)	missense	probably damaging	1.00
Z1177:Mkx	UTSW	18	6,937,195 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16