Incidental Mutation 'IGL01985:Irx5'
| ID |
181889 |
| 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 # |
IGL01985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93084424-93088084 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 93086155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000034184
|
| SMART Domains |
Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
| 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 benign
Transcript: ENSMUST00000210246
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,442,024 (GRCm39) |
Q76* |
probably null |
Het |
| Cass4 |
A |
C |
2: 172,269,126 (GRCm39) |
S403R |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,175,052 (GRCm39) |
Y540* |
probably null |
Het |
| Cep164 |
C |
T |
9: 45,690,904 (GRCm39) |
E1266K |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,359,334 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,482 (GRCm39) |
K510R |
unknown |
Het |
| Crisp4 |
G |
A |
1: 18,204,289 (GRCm39) |
P101S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,884,074 (GRCm39) |
L614P |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,603,303 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,911,614 (GRCm39) |
F589L |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,899,119 (GRCm39) |
V459E |
probably damaging |
Het |
| E2f6 |
T |
C |
12: 16,869,064 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
C |
9: 53,287,869 (GRCm39) |
L1650P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,535,324 (GRCm39) |
Y691C |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,889,173 (GRCm39) |
T44A |
probably benign |
Het |
| Gm28044 |
T |
A |
13: 67,495,958 (GRCm39) |
K28* |
probably null |
Het |
| Il12b |
G |
A |
11: 44,298,881 (GRCm39) |
W112* |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,263,802 (GRCm39) |
T621A |
probably damaging |
Het |
| Jmy |
T |
C |
13: 93,596,144 (GRCm39) |
H495R |
possibly damaging |
Het |
| Kif21a |
A |
T |
15: 90,875,970 (GRCm39) |
V321D |
probably damaging |
Het |
| Lrrc10 |
T |
A |
10: 116,881,921 (GRCm39) |
D198E |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,103 (GRCm39) |
E651G |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,519,931 (GRCm39) |
V230A |
probably damaging |
Het |
| Mylk4 |
T |
A |
13: 32,901,564 (GRCm39) |
I475L |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,493,013 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,442 (GRCm39) |
V196E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,414,844 (GRCm39) |
V399M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,244 (GRCm39) |
E711K |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,570,296 (GRCm39) |
K38E |
probably damaging |
Het |
| Ror1 |
G |
A |
4: 100,283,161 (GRCm39) |
V409M |
possibly damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,111,853 (GRCm39) |
V140D |
probably benign |
Het |
| Srebf2 |
G |
T |
15: 82,076,560 (GRCm39) |
A737S |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,663,721 (GRCm39) |
T303A |
unknown |
Het |
| Tmem74 |
A |
T |
15: 43,730,476 (GRCm39) |
I189N |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,746,607 (GRCm39) |
D1242G |
possibly damaging |
Het |
| U2surp |
A |
T |
9: 95,372,279 (GRCm39) |
F293L |
probably damaging |
Het |
| Uchl5 |
G |
A |
1: 143,661,864 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,402,565 (GRCm39) |
C2472S |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,700,940 (GRCm39) |
R1028W |
probably damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,125 (GRCm39) |
S60P |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,397,510 (GRCm39) |
D249E |
probably benign |
Het |
| Vnn1 |
C |
T |
10: 23,776,642 (GRCm39) |
T331I |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 126,994,541 (GRCm39) |
V232F |
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 |
|
IGL01870:Irx5
|
APN |
8 |
93,086,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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