Incidental Mutation 'IGL01976:Irx6'
| ID |
182667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irx6
|
| Ensembl Gene |
ENSMUSG00000031738 |
| Gene Name |
Iroquois homeobox 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93400917-93407584 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 93402717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 27
(C27*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034185]
[ENSMUST00000167261]
|
| AlphaFold |
Q9ER75 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034185
AA Change: C27*
|
| SMART Domains |
Protein: ENSMUSP00000034185
Gene: ENSMUSG00000031738
AA Change: C27*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
46 |
N/A |
INTRINSIC |
|
HOX
|
143 |
208 |
1.76e-13 |
SMART |
|
coiled coil region
|
247 |
280 |
N/A |
INTRINSIC |
|
IRO
|
338 |
355 |
9e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167261
AA Change: C27*
|
| SMART Domains |
Protein: ENSMUSP00000127446
Gene: ENSMUSG00000031738
AA Change: C27*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
46 |
N/A |
INTRINSIC |
|
HOX
|
143 |
208 |
1.76e-13 |
SMART |
|
coiled coil region
|
247 |
280 |
N/A |
INTRINSIC |
|
IRO
|
338 |
355 |
9e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210252
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display abnormalities in retinal bipolar cell subtype identity and reduced electroretinography a and b wave amplitudes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
probably benign |
Het |
|
| Other mutations in Irx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02308:Irx6
|
APN |
8 |
93,403,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Irx6
|
UTSW |
8 |
93,403,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Irx6
|
UTSW |
8 |
93,403,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Irx6
|
UTSW |
8 |
93,404,881 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4161:Irx6
|
UTSW |
8 |
93,402,919 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4368:Irx6
|
UTSW |
8 |
93,405,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Irx6
|
UTSW |
8 |
93,404,981 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4950:Irx6
|
UTSW |
8 |
93,405,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Irx6
|
UTSW |
8 |
93,404,145 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6455:Irx6
|
UTSW |
8 |
93,402,700 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6969:Irx6
|
UTSW |
8 |
93,403,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Irx6
|
UTSW |
8 |
93,405,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7128:Irx6
|
UTSW |
8 |
93,403,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Irx6
|
UTSW |
8 |
93,405,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8182:Irx6
|
UTSW |
8 |
93,403,642 (GRCm39) |
nonsense |
probably null |
|
|
R8546:Irx6
|
UTSW |
8 |
93,405,264 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8955:Irx6
|
UTSW |
8 |
93,405,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Irx6
|
UTSW |
8 |
93,404,999 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2014-05-07 |
Incidental Mutation