Incidental Mutation 'IGL02597:Irx5'
| ID |
299888 |
| 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 # |
IGL02597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93084424-93088084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93087400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 444
(N444T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034184]
[ENSMUST00000210246]
|
| AlphaFold |
Q9JKQ4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000034183
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034184
AA Change: N444T
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: N444T
| 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 |
possibly damaging
Transcript: ENSMUST00000210246
AA Change: N444T
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,469,665 (GRCm39) |
Y862C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,851 (GRCm39) |
K1648E |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Atp7a |
A |
T |
X: 105,113,494 (GRCm39) |
N34I |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,033,953 (GRCm39) |
Y232C |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,555,720 (GRCm39) |
N738K |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,972 (GRCm39) |
V132A |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,456,169 (GRCm39) |
T946K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,156,965 (GRCm39) |
|
probably benign |
Het |
| Copz2 |
T |
C |
11: 96,748,425 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
C |
A |
19: 39,549,331 (GRCm39) |
S283* |
probably null |
Het |
| Dlec1 |
A |
T |
9: 118,963,604 (GRCm39) |
S973C |
probably damaging |
Het |
| Far1 |
A |
T |
7: 113,150,463 (GRCm39) |
T264S |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,373,633 (GRCm39) |
L1452P |
probably damaging |
Het |
| Kcnip2 |
A |
G |
19: 45,784,712 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,761,712 (GRCm39) |
M546K |
unknown |
Het |
| Lrrc37a |
A |
G |
11: 103,395,113 (GRCm39) |
L104S |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,328,538 (GRCm39) |
L1143P |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,645,016 (GRCm39) |
H1477R |
probably benign |
Het |
| Nkap |
T |
A |
X: 36,411,437 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,656 (GRCm39) |
V109A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,646 (GRCm39) |
T204S |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,386,318 (GRCm39) |
Q214* |
probably null |
Het |
| Pex1 |
C |
T |
5: 3,685,865 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,625 (GRCm39) |
N1066I |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,788,497 (GRCm39) |
E152G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,439,189 (GRCm39) |
I1560T |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,280,987 (GRCm39) |
E221G |
possibly damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,497,824 (GRCm39) |
T478A |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem161a |
A |
T |
8: 70,634,693 (GRCm39) |
R297S |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 74,025,032 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
G |
A |
5: 87,228,783 (GRCm39) |
T420M |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,812,818 (GRCm39) |
R1652* |
probably null |
Het |
| Zap70 |
T |
A |
1: 36,811,001 (GRCm39) |
Y178* |
probably null |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,456 (GRCm39) |
F60L |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation