Incidental Mutation 'R1273:Mkx'
| ID |
151374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkx
|
| Ensembl Gene |
ENSMUSG00000061013 |
| Gene Name |
mohawk homeobox |
| Synonyms |
9430023B20Rik, Irxl1 |
| MMRRC Submission |
039339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
6934966-7004779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 7002460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 29
(T29P)
|
| 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: T29P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078718
Gene: ENSMUSG00000061013
AA Change: T29P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,217,491 (GRCm39) |
K122E |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,041,359 (GRCm39) |
F2579S |
probably damaging |
Het |
| Dnah12 |
C |
T |
14: 26,460,375 (GRCm39) |
Q934* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,819,752 (GRCm39) |
D5162N |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,444,470 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
G |
7: 64,522,339 (GRCm39) |
Y110H |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,341,980 (GRCm39) |
V134A |
probably benign |
Het |
| Saal1 |
A |
T |
7: 46,342,366 (GRCm39) |
V359E |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmprss11a |
T |
A |
5: 86,562,447 (GRCm39) |
R299S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAGGCGGTAAATCCTGGCAGC -3'
(R):5'- TGGTCATTAGAACCACTACAGCCCC -3'
Sequencing Primer
(F):5'- GCGGACTCCTGATCTTGTTATAC -3'
(R):5'- GCAGCCATACCGAATTCTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation