Incidental Mutation 'R3692:Nkx2-6'
| ID |
268837 |
| 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 |
040687-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3692 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
69409251-69412967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69409476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 76
(S76P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062437]
|
| AlphaFold |
P43688 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062437
AA Change: S76P
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: S76P
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
123 |
185 |
1.64e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172547
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (42/43) |
| 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 |
|---|
| Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
| Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
| Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
| Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
| Dennd6b |
A |
G |
15: 89,071,030 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
T |
A |
8: 31,726,048 (GRCm39) |
Y268N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,438 (GRCm39) |
S198P |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,928,998 (GRCm39) |
N959S |
probably damaging |
Het |
| Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
| Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
| Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
| Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
| Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,241,760 (GRCm39) |
D845G |
unknown |
Het |
| Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
| Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
| St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
| St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
| Tnfrsf1b |
G |
T |
4: 144,954,092 (GRCm39) |
Q86K |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
| Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGCCAACAGAAGGATTCC -3'
(R):5'- GAGCTCTCATAACCTGGCTC -3'
Sequencing Primer
(F):5'- TTCCAAGACCCTGTCACAATGGG -3'
(R):5'- CATCCCCTCTTTGTGGTTATTAGAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation