Incidental Mutation 'R1312:Mkx'
| ID |
157984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkx
|
| Ensembl Gene |
ENSMUSG00000061013 |
| Gene Name |
mohawk homeobox |
| Synonyms |
9430023B20Rik, Irxl1 |
| MMRRC Submission |
039378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1312 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
6934966-7004779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6937192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 284
(D284V)
|
| 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: D284V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000078718
Gene: ENSMUSG00000061013
AA Change: D284V
| 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: ENSMUST00000176586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188926
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 85.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,585 (GRCm39) |
V52A |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,166,608 (GRCm39) |
V415A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,767,625 (GRCm39) |
D750G |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
| Edem2 |
T |
G |
2: 155,544,505 (GRCm39) |
D415A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,203,179 (GRCm39) |
F272S |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,739,224 (GRCm39) |
R175C |
probably damaging |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
| Gm14443 |
A |
T |
2: 175,013,383 (GRCm39) |
|
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,707,797 (GRCm39) |
T80A |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
| Lgals9 |
G |
A |
11: 78,867,443 (GRCm39) |
Q42* |
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,398 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
C |
13: 113,019,785 (GRCm39) |
L775* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,652 (GRCm39) |
I261K |
probably benign |
Het |
| Pde1b |
T |
G |
15: 103,434,700 (GRCm39) |
S339A |
possibly damaging |
Het |
| Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
| Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
| Rho |
C |
G |
6: 115,912,566 (GRCm39) |
N160K |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
| Styxl2 |
A |
T |
1: 165,926,860 (GRCm39) |
N917K |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
probably 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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTGGATGATGCAACTGGTGG -3'
(R):5'- CACAGGCTGGAGTCTCAGGAAATTG -3'
Sequencing Primer
(F):5'- GCATTGATCTCCTTCCAGTATGTG -3'
(R):5'- tggaggagtggctcagtg -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation