Incidental Mutation 'IGL02035:Nkx6-2'
| ID |
184487 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkx6-2
|
| Ensembl Gene |
ENSMUSG00000041309 |
| Gene Name |
NK6 homeobox 2 |
| Synonyms |
Gtx, Nkx6.2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139159292-139162713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139161601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 195
(W195R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097974]
[ENSMUST00000097975]
[ENSMUST00000106095]
[ENSMUST00000106098]
|
| AlphaFold |
D3Z4R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026550
|
| SMART Domains |
Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097974
AA Change: W195R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095588
Gene: ENSMUSG00000041309
AA Change: W195R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
85 |
N/A |
INTRINSIC |
|
HOX
|
148 |
210 |
8.32e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097975
|
| SMART Domains |
Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106095
AA Change: W195R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101701
Gene: ENSMUSG00000041309
AA Change: W195R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
85 |
N/A |
INTRINSIC |
|
HOX
|
148 |
210 |
8.32e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106098
|
| SMART Domains |
Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired coordination at 6 weeks of age and axon degeneration in the optic nerve at 7 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
| Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
| Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
| Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
| Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
| Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
| Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
| Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
| Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
| Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nkx6-2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3625:Nkx6-2
|
UTSW |
7 |
139,162,106 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4702:Nkx6-2
|
UTSW |
7 |
139,161,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Nkx6-2
|
UTSW |
7 |
139,161,486 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6020:Nkx6-2
|
UTSW |
7 |
139,161,483 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7156:Nkx6-2
|
UTSW |
7 |
139,162,045 (GRCm39) |
splice site |
probably null |
|
|
R7430:Nkx6-2
|
UTSW |
7 |
139,161,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Nkx6-2
|
UTSW |
7 |
139,161,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Nkx6-2
|
UTSW |
7 |
139,161,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Nkx6-2
|
UTSW |
7 |
139,161,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation