Incidental Mutation 'IGL01870:Irx5'
| ID |
178673 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irx5
|
| Ensembl Gene |
ENSMUSG00000031737 |
| Gene Name |
Iroquois homeobox 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93084424-93088084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93086405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 163
(F163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034184]
[ENSMUST00000210246]
|
| AlphaFold |
Q9JKQ4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000034183
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034184
AA Change: F163L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: F163L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
112 |
177 |
1.14e-12 |
SMART |
|
low complexity region
|
185 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
327 |
N/A |
INTRINSIC |
|
IRO
|
328 |
345 |
2.28e-5 |
SMART |
|
low complexity region
|
351 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180102
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210246
AA Change: F163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,310 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,438,604 (GRCm39) |
K300E |
probably damaging |
Het |
| Cma2 |
C |
A |
14: 56,211,194 (GRCm39) |
S162Y |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,466,676 (GRCm39) |
T193A |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,824,377 (GRCm39) |
M556L |
probably benign |
Het |
| Dld |
A |
G |
12: 31,385,466 (GRCm39) |
S292P |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,009,552 (GRCm39) |
D3746E |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,809,848 (GRCm39) |
T9A |
probably damaging |
Het |
| Eeig1 |
T |
C |
2: 32,456,294 (GRCm39) |
S319P |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,108 (GRCm39) |
K1714R |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,980,955 (GRCm39) |
M327K |
probably benign |
Het |
| Ifnz |
T |
A |
4: 88,701,548 (GRCm39) |
S176T |
possibly damaging |
Het |
| Irak4 |
T |
C |
15: 94,445,751 (GRCm39) |
Y10H |
probably benign |
Het |
| Jak3 |
C |
T |
8: 72,133,434 (GRCm39) |
P376S |
probably damaging |
Het |
| Lrrc25 |
T |
C |
8: 71,070,437 (GRCm39) |
S73P |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,906 (GRCm39) |
G2285D |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,624 (GRCm39) |
T1025S |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,134 (GRCm39) |
N303S |
probably benign |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,022,667 (GRCm39) |
V1512A |
probably benign |
Het |
| Phlda3 |
A |
G |
1: 135,694,376 (GRCm39) |
S64G |
probably benign |
Het |
| Pptc7 |
C |
A |
5: 122,451,665 (GRCm39) |
S40R |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,797,887 (GRCm39) |
L95H |
probably benign |
Het |
| Ptpn4 |
A |
C |
1: 119,603,277 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,007,302 (GRCm39) |
M160V |
probably benign |
Het |
| Stac |
T |
C |
9: 111,401,400 (GRCm39) |
I349V |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,866 (GRCm39) |
S157P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,052,915 (GRCm39) |
L924P |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,601,411 (GRCm39) |
V883I |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Whamm |
C |
T |
7: 81,245,722 (GRCm39) |
T726I |
probably damaging |
Het |
|
| Other mutations in Irx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01735:Irx5
|
APN |
8 |
93,087,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01985:Irx5
|
APN |
8 |
93,086,155 (GRCm39) |
splice site |
probably benign |
|
|
IGL02481:Irx5
|
APN |
8 |
93,087,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Irx5
|
APN |
8 |
93,087,400 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03257:Irx5
|
APN |
8 |
93,087,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0784:Irx5
|
UTSW |
8 |
93,087,118 (GRCm39) |
missense |
probably benign |
|
|
R1498:Irx5
|
UTSW |
8 |
93,086,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Irx5
|
UTSW |
8 |
93,086,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Irx5
|
UTSW |
8 |
93,086,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Irx5
|
UTSW |
8 |
93,086,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Irx5
|
UTSW |
8 |
93,086,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Irx5
|
UTSW |
8 |
93,084,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Irx5
|
UTSW |
8 |
93,086,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3942:Irx5
|
UTSW |
8 |
93,086,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4361:Irx5
|
UTSW |
8 |
93,085,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4574:Irx5
|
UTSW |
8 |
93,084,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4994:Irx5
|
UTSW |
8 |
93,087,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Irx5
|
UTSW |
8 |
93,086,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5884:Irx5
|
UTSW |
8 |
93,087,258 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5988:Irx5
|
UTSW |
8 |
93,087,299 (GRCm39) |
nonsense |
probably null |
|
|
R6017:Irx5
|
UTSW |
8 |
93,084,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Irx5
|
UTSW |
8 |
93,086,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6466:Irx5
|
UTSW |
8 |
93,086,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Irx5
|
UTSW |
8 |
93,086,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Irx5
|
UTSW |
8 |
93,086,183 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8166:Irx5
|
UTSW |
8 |
93,086,712 (GRCm39) |
splice site |
probably null |
|
|
R8215:Irx5
|
UTSW |
8 |
93,086,241 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8396:Irx5
|
UTSW |
8 |
93,086,962 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8695:Irx5
|
UTSW |
8 |
93,087,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8991:Irx5
|
UTSW |
8 |
93,087,135 (GRCm39) |
nonsense |
probably null |
|
|
R9412:Irx5
|
UTSW |
8 |
93,086,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Irx5
|
UTSW |
8 |
93,087,259 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9708:Irx5
|
UTSW |
8 |
93,087,118 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2014-05-07 |
Incidental Mutation