Incidental Mutation 'IGL01284:Nkx2-6'
| ID |
72651 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkx2-6
|
| Ensembl Gene |
ENSMUSG00000044186 |
| Gene Name |
NK2 homeobox 6 |
| Synonyms |
Nkx2.6, Tix, tinman, Nkx-2.6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
69409251-69412967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69409326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 26
(S26P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062437]
|
| AlphaFold |
P43688 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062437
AA Change: S26P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: S26P
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
123 |
185 |
1.64e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172547
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted null allele are viable and fertile and develop normally, with no anomalies detected in the caudal pharyngeal pouch derivatives, heart or gut. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
| C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
| Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
| Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
| Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
| Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
| Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
| Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
probably damaging |
Het |
|
| Other mutations in Nkx2-6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Nkx2-6
|
APN |
14 |
69,412,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:Nkx2-6
|
UTSW |
14 |
69,412,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Nkx2-6
|
UTSW |
14 |
69,412,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Nkx2-6
|
UTSW |
14 |
69,412,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Nkx2-6
|
UTSW |
14 |
69,412,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2115:Nkx2-6
|
UTSW |
14 |
69,409,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3692:Nkx2-6
|
UTSW |
14 |
69,409,476 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4624:Nkx2-6
|
UTSW |
14 |
69,412,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5189:Nkx2-6
|
UTSW |
14 |
69,409,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5412:Nkx2-6
|
UTSW |
14 |
69,412,195 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5583:Nkx2-6
|
UTSW |
14 |
69,409,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6748:Nkx2-6
|
UTSW |
14 |
69,412,555 (GRCm39) |
missense |
probably benign |
|
|
R7487:Nkx2-6
|
UTSW |
14 |
69,409,389 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8090:Nkx2-6
|
UTSW |
14 |
69,409,465 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8351:Nkx2-6
|
UTSW |
14 |
69,409,476 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8904:Nkx2-6
|
UTSW |
14 |
69,409,420 (GRCm39) |
missense |
probably benign |
|
|
R8906:Nkx2-6
|
UTSW |
14 |
69,412,623 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9287:Nkx2-6
|
UTSW |
14 |
69,412,404 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2013-10-07 |
Incidental Mutation