Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02478:Mkx'

295046

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 #

IGL02478

Quality Score

Status

Chromosome

Chromosomal Location

6934966-7004779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7002418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 43 (V43M)

Ref Sequence

ENSEMBL: ENSMUSP00000078718 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079788
AA Change: V43M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078718
Gene: ENSMUSG00000061013
AA Change: V43M

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,856,018 (GRCm39)	A42E	probably damaging	Het
Agmo	T	A	12: 37,451,985 (GRCm39)	F247L	probably damaging	Het
Arap1	C	A	7: 101,049,332 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,408,585 (GRCm39)	D1974G	unknown	Het
Asxl3	C	T	18: 22,656,070 (GRCm39)	A1360V	possibly damaging	Het
Celsr1	T	A	15: 85,825,337 (GRCm39)	T1599S	possibly damaging	Het
Chrdl2	T	C	7: 99,670,190 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,701,794 (GRCm39)		probably benign	Het
Dis3l	C	T	9: 64,222,055 (GRCm39)	E452K	probably benign	Het
Dnajc2	A	T	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Eps8	G	A	6: 137,499,840 (GRCm39)	P213L	probably benign	Het
Erbb3	T	A	10: 128,407,227 (GRCm39)	R978*	probably null	Het
Exoc2	A	T	13: 31,111,403 (GRCm39)	C142S	probably benign	Het
Fam184b	T	C	5: 45,695,039 (GRCm39)	E735G	probably damaging	Het
Fancm	T	C	12: 65,123,864 (GRCm39)	V174A	probably damaging	Het
Fat4	T	C	3: 38,942,364 (GRCm39)	L419P	probably damaging	Het
Fsip2	G	T	2: 82,814,736 (GRCm39)	V3490L	probably benign	Het
Ftcd	A	T	10: 76,417,255 (GRCm39)	R255*	probably null	Het
Galc	T	C	12: 98,179,391 (GRCm39)	N506S	possibly damaging	Het
Gm20441	G	T	10: 75,608,644 (GRCm39)	A26E	probably damaging	Het
Gm21969	T	G	4: 139,367,999 (GRCm39)		probably null	Het
Ifitm3	T	A	7: 140,589,787 (GRCm39)	M89L	possibly damaging	Het
Ift25	T	A	4: 107,132,449 (GRCm39)	S79T	probably benign	Het
Inmt	T	C	6: 55,150,355 (GRCm39)	E94G	probably damaging	Het
Insrr	G	A	3: 87,716,719 (GRCm39)	G649D	probably benign	Het
Ivd	T	C	2: 118,692,572 (GRCm39)	L24P	probably benign	Het
Kcnc1	A	G	7: 46,084,593 (GRCm39)	N506D	probably benign	Het
Krt39	T	A	11: 99,411,723 (GRCm39)	D121V	probably benign	Het
Lcp1	A	G	14: 75,461,536 (GRCm39)	I510V	probably benign	Het
Mmp2	A	G	8: 93,579,235 (GRCm39)	N108S	possibly damaging	Het
Mob1b	T	C	5: 88,903,947 (GRCm39)		probably benign	Het
Morc3	A	G	16: 93,661,844 (GRCm39)		probably benign	Het
Myh13	T	G	11: 67,260,204 (GRCm39)	S1881A	probably benign	Het
Nalcn	T	C	14: 123,558,717 (GRCm39)	E843G	probably benign	Het
Ngef	A	G	1: 87,408,301 (GRCm39)		probably benign	Het
Or14c40	T	A	7: 86,313,344 (GRCm39)	I158N	probably damaging	Het
Osm	A	G	11: 4,189,507 (GRCm39)	Y97C	probably damaging	Het
Pclo	T	A	5: 14,816,792 (GRCm39)	L4556Q	unknown	Het
Pcyox1l	T	C	18: 61,830,780 (GRCm39)	D364G	probably benign	Het
Plekha6	T	A	1: 133,211,031 (GRCm39)	V467E	probably benign	Het
Qrsl1	A	T	10: 43,758,158 (GRCm39)	S312T	probably damaging	Het
Ripk1	T	A	13: 34,194,572 (GRCm39)	L70Q	probably damaging	Het
Rnaseh1	A	T	12: 28,705,662 (GRCm39)	Y162F	probably damaging	Het
Ror2	T	A	13: 53,275,703 (GRCm39)	T195S	probably damaging	Het
Sh3bp2	T	C	5: 34,709,006 (GRCm39)	L33P	probably damaging	Het
Skil	T	A	3: 31,151,968 (GRCm39)	C163*	probably null	Het
Slc25a37	A	T	14: 69,486,883 (GRCm39)	N133K	probably benign	Het
Slitrk3	A	C	3: 72,958,046 (GRCm39)	V242G	probably damaging	Het
Sra1	A	G	18: 36,801,845 (GRCm39)	S82P	probably benign	Het
Synj2	A	G	17: 6,088,199 (GRCm39)	N1417D	probably benign	Het
Tas2r122	A	G	6: 132,688,578 (GRCm39)	V105A	possibly damaging	Het
Tasor2	T	C	13: 3,624,661 (GRCm39)	E1763G	probably benign	Het
Ttc21b	T	C	2: 66,018,624 (GRCm39)	N1261S	probably benign	Het
Vmn2r69	A	G	7: 85,055,889 (GRCm39)	S750P	probably damaging	Het
Wdr95	A	G	5: 149,519,786 (GRCm39)	T568A	probably benign	Het
Zfp319	T	A	8: 96,055,721 (GRCm39)	I161F	possibly damaging	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
IGL02676:Mkx	APN	18	7,000,640 (GRCm39)	missense	probably benign	0.08
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