Mutagenetix > Incidental Mutation

Incidental Mutation 'R6129:Mkx'

487598

Institutional Source

Beutler Lab

Gene Symbol

Mkx

Ensembl Gene

ENSMUSG00000061013

Gene Name

mohawk homeobox

Synonyms

9430023B20Rik, Irxl1

MMRRC Submission

044276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6934966-7004779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6992888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 132 (V132A)

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: V132A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078718
Gene: ENSMUSG00000061013
AA Change: V132A

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: ENSMUST00000188926

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	A	11: 69,789,137 (GRCm39)	Y354F	probably damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Acsm2	G	A	7: 119,190,470 (GRCm39)		probably null	Het
Adgrl1	A	G	8: 84,645,616 (GRCm39)	N80D	probably damaging	Het
Ankrd34a	T	A	3: 96,505,274 (GRCm39)	Y159*	probably null	Het
Bcl2l2	G	A	14: 55,122,202 (GRCm39)	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,914,970 (GRCm39)	H293R	probably benign	Het
Ccn1	T	C	3: 145,354,986 (GRCm39)	I90V	possibly damaging	Het
Clec4b1	A	G	6: 123,045,461 (GRCm39)	T94A	possibly damaging	Het
Crim1	A	G	17: 78,588,738 (GRCm39)	D271G	probably benign	Het
Csmd2	G	A	4: 128,387,127 (GRCm39)	G2141S	possibly damaging	Het
Cspg4b	T	A	13: 113,505,340 (GRCm39)	Y2156*	probably null	Het
Ctnnal1	C	A	4: 56,829,573 (GRCm39)	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,774,851 (GRCm39)	R264H	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsc2	T	A	18: 20,178,487 (GRCm39)	T306S	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermp1	A	T	19: 29,600,609 (GRCm39)	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5114	C	T	7: 39,058,024 (GRCm39)	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,780,418 (GRCm39)	L168P	probably damaging	Het
Hao2	T	C	3: 98,787,842 (GRCm39)	T196A	probably benign	Het
Hdac9	A	C	12: 34,337,474 (GRCm39)	L669R	probably damaging	Het
Hps5	A	G	7: 46,421,198 (GRCm39)	V755A	probably benign	Het
Jag2	G	T	12: 112,883,969 (GRCm39)	Y203*	probably null	Het
Lrrn3	G	A	12: 41,503,787 (GRCm39)	Q177*	probably null	Het
Me1	A	T	9: 86,533,009 (GRCm39)	V151E	probably damaging	Het
Mycbp2	A	G	14: 103,522,836 (GRCm39)	S643P	probably benign	Het
Mysm1	C	A	4: 94,856,192 (GRCm39)	R135L	probably damaging	Het
Nup210l	T	C	3: 90,011,483 (GRCm39)	F4L	probably benign	Het
Pappa2	A	T	1: 158,542,567 (GRCm39)	C1773*	probably null	Het
Pcbp3	T	C	10: 76,599,182 (GRCm39)	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,410,912 (GRCm39)	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,261,379 (GRCm39)	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,178,467 (GRCm39)	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phf7	A	G	14: 30,962,820 (GRCm39)	Y137H	probably damaging	Het
Pkd1l1	A	G	11: 8,818,543 (GRCm39)	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,955,135 (GRCm39)	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,819,990 (GRCm39)	W251*	probably null	Het
Prps1l1	A	G	12: 35,035,329 (GRCm39)	E148G	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Robo3	A	G	9: 37,334,589 (GRCm39)	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	A	T	11: 50,308,075 (GRCm39)	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271 (GRCm39)	F1112S	probably damaging	Het
Sap130	T	C	18: 31,815,144 (GRCm39)	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,059,513 (GRCm39)	C1124F	probably damaging	Het
Stk10	T	A	11: 32,565,871 (GRCm39)	C872S	probably damaging	Het
Tex15	A	T	8: 34,064,158 (GRCm39)	N1196I	possibly damaging	Het
Tnxa	A	G	17: 35,019,262 (GRCm39)		probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zscan4b	T	A	7: 10,635,815 (GRCm39)	T171S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACCTAGGGCGAACTTGTTG -3'
(R):5'- GTGTGGTACATTTACACAATGGAG -3'

Sequencing Primer
(F):5'- CCTAGGGCGAACTTGTTGCAAAAG -3'
(R):5'- GGAGCTCTTAAAAACAATGTCAGCTC -3'

Posted On

2017-10-10