Incidental Mutation 'R5189:Nkx2-6'
| ID |
405072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkx2-6
|
| Ensembl Gene |
ENSMUSG00000044186 |
| Gene Name |
NK2 homeobox 6 |
| Synonyms |
Nkx2.6, Tix, tinman, Nkx-2.6 |
| MMRRC Submission |
042767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
69409251-69412967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69409342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 31
(Q31L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062437]
|
| AlphaFold |
P43688 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062437
AA Change: Q31L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: Q31L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
123 |
185 |
1.64e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172547
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,240,123 (GRCm39) |
T1311I |
possibly damaging |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,376,169 (GRCm39) |
T233A |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,573 (GRCm39) |
I859V |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,990,849 (GRCm39) |
A644S |
possibly damaging |
Het |
| Gatb |
T |
C |
3: 85,544,238 (GRCm39) |
V402A |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,395,892 (GRCm39) |
K153R |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,463,147 (GRCm39) |
L60S |
probably damaging |
Het |
| Hsf4 |
GCAGCACCGGGTCA |
G |
8: 105,998,060 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,139,843 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,843 (GRCm39) |
T386S |
possibly damaging |
Het |
| Il12rb1 |
A |
G |
8: 71,263,702 (GRCm39) |
T88A |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,401,545 (GRCm39) |
S1051P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,828,879 (GRCm39) |
|
probably null |
Het |
| Ly96 |
A |
G |
1: 16,771,091 (GRCm39) |
E74G |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,136,097 (GRCm39) |
|
probably null |
Het |
| Megf6 |
G |
T |
4: 154,336,980 (GRCm39) |
R253L |
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,518,459 (GRCm39) |
D258G |
probably damaging |
Het |
| Mpzl3 |
T |
C |
9: 44,973,408 (GRCm39) |
I49T |
possibly damaging |
Het |
| Myh15 |
C |
A |
16: 48,921,870 (GRCm39) |
T472N |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,611 (GRCm39) |
S527P |
probably damaging |
Het |
| Nkx2-3 |
T |
G |
19: 43,601,147 (GRCm39) |
S70A |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,632 (GRCm39) |
V77A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,101,844 (GRCm39) |
N346Y |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,607,785 (GRCm39) |
D95N |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,544 (GRCm39) |
T2684A |
probably damaging |
Het |
| Plin2 |
A |
G |
4: 86,575,383 (GRCm39) |
Y389H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,149,275 (GRCm39) |
|
probably null |
Het |
| Smg6 |
A |
G |
11: 74,932,822 (GRCm39) |
T1038A |
probably damaging |
Het |
| Suds3 |
T |
C |
5: 117,238,664 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,424,213 (GRCm39) |
H626R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,746,573 (GRCm39) |
H616Q |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,568,288 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,385 (GRCm39) |
S103T |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,662,679 (GRCm39) |
P1602Q |
probably damaging |
Het |
|
| Other mutations in Nkx2-6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Nkx2-6
|
APN |
14 |
69,409,326 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGACCTAGTGTGCATC -3'
(R):5'- CTCCCTCAATAACACCTGTAGG -3'
Sequencing Primer
(F):5'- TAGTGTGCATCCCAGAATCG -3'
(R):5'- CCTGTAGGAAAGAGCGCTTACTTAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation