Mutagenetix > Incidental Mutation

Incidental Mutation 'R4544:Mkx'

333698

Institutional Source

Beutler Lab

Gene Symbol

Mkx

Ensembl Gene

ENSMUSG00000061013

Gene Name

mohawk homeobox

Synonyms

9430023B20Rik, Irxl1

MMRRC Submission

041779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6934966-7004779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7000651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 97 (Y97C)

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: Y97C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078718
Gene: ENSMUSG00000061013
AA Change: Y97C

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

Meta Mutation Damage Score

0.9704

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (58/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
C1s1	A	G	6: 124,508,499 (GRCm39)	S497P	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Chil4	C	A	3: 106,117,922 (GRCm39)	R116L	probably damaging	Het
Cmpk2	A	G	12: 26,528,016 (GRCm39)	E411G	probably damaging	Het
Cmya5	G	A	13: 93,228,426 (GRCm39)	R2221*	probably null	Het
Csmd1	A	T	8: 16,760,652 (GRCm39)	F161Y	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Dppa3	A	G	6: 122,603,726 (GRCm39)		probably benign	Het
Ednra	A	G	8: 78,401,540 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,549,603 (GRCm39)		probably null	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Fndc1	T	A	17: 7,992,376 (GRCm39)	D440V	unknown	Het
Gm9934	A	G	7: 92,702,188 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ifi205	T	C	1: 173,854,139 (GRCm39)	I171M	possibly damaging	Het
Ifi213	T	C	1: 173,409,693 (GRCm39)		probably null	Het
Insig2	A	T	1: 121,239,921 (GRCm39)		probably benign	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Krt23	G	A	11: 99,369,102 (GRCm39)	T397M	probably benign	Het
Lepr	G	A	4: 101,625,425 (GRCm39)	V527I	possibly damaging	Het
Lmo2	C	T	2: 103,806,382 (GRCm39)	P25L	probably damaging	Het
Lsr	C	T	7: 30,671,401 (GRCm39)	V111M	probably damaging	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Mndal	A	T	1: 173,703,230 (GRCm39)	Y58*	probably null	Het
Myo9b	T	C	8: 71,780,585 (GRCm39)	V494A	probably damaging	Het
Nek1	C	T	8: 61,469,338 (GRCm39)	Q132*	probably null	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Or6c5	A	C	10: 129,074,027 (GRCm39)	N3T	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pde8a	A	T	7: 80,977,847 (GRCm39)	R713S	probably damaging	Het
Pex10	T	C	4: 155,154,952 (GRCm39)	Y235H	probably benign	Het
Pik3cb	T	A	9: 98,921,812 (GRCm39)	K1050I	probably damaging	Het
Prss56	A	G	1: 87,112,364 (GRCm39)	D85G	probably damaging	Het
Psg26	T	C	7: 18,212,464 (GRCm39)	N297S	probably damaging	Het
Rdh16f1	T	C	10: 127,626,706 (GRCm39)	L253S	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Slc8b1	G	A	5: 120,669,218 (GRCm39)		probably null	Het
Sorbs1	G	A	19: 40,300,294 (GRCm39)	T575M	probably damaging	Het
Syne3	T	A	12: 104,925,728 (GRCm39)	K313M	probably damaging	Het
Tas2r108	A	G	6: 40,470,742 (GRCm39)	T73A	probably benign	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Uba52rt	C	T	4: 3,973,244 (GRCm39)	R106H	probably benign	Het
Ubr3	G	A	2: 69,786,437 (GRCm39)	M850I	probably benign	Het
Vmn2r78	A	T	7: 86,570,399 (GRCm39)	M306L	probably benign	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTCATCCTCTGTGGCAAC -3'
(R):5'- TGCTGACATCTCAGAAATGCGG -3'

Sequencing Primer
(F):5'- AGATCTGGACCTGCCTCTGAAC -3'
(R):5'- CTCAGAAATGCGGTCTATCATGG -3'

Posted On

2015-08-18