Incidental Mutation 'IGL03257:Irx5'
| ID |
414712 |
| 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 # |
IGL03257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93084424-93088084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93087258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 397
(T397A)
|
| 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
AA Change: T397A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: T397A
| 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
AA Change: T397A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
| Ccny |
A |
T |
18: 9,386,747 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
| Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,805 (GRCm39) |
H228R |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,490,507 (GRCm39) |
Y61C |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
| Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
| Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,656 (GRCm39) |
I127T |
probably damaging |
Het |
| Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,493,370 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,868 (GRCm39) |
F340Y |
possibly damaging |
Het |
| Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
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 |
|
IGL02597:Irx5
|
APN |
8 |
93,087,400 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2016-08-02 |
Incidental Mutation