Incidental Mutation 'IGL00979:Irx4'
ID |
306645 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Irx4
|
Ensembl Gene |
ENSMUSG00000021604 |
Gene Name |
Iroquois homeobox 4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
IGL00979
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
73408598-73417727 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 73416341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022095]
[ENSMUST00000176684]
|
AlphaFold |
Q9QY61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022095
|
SMART Domains |
Protein: ENSMUSP00000022095 Gene: ENSMUSG00000021604
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
HOX
|
143 |
208 |
5.33e-13 |
SMART |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
low complexity region
|
252 |
268 |
N/A |
INTRINSIC |
IRO
|
362 |
379 |
6.36e-4 |
SMART |
low complexity region
|
399 |
419 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176684
|
SMART Domains |
Protein: ENSMUSP00000134738 Gene: ENSMUSG00000021604
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
HOX
|
143 |
208 |
5.33e-13 |
SMART |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
low complexity region
|
252 |
268 |
N/A |
INTRINSIC |
IRO
|
362 |
379 |
6.36e-4 |
SMART |
low complexity region
|
399 |
419 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal ventricular gene expression followed by cardiomyopathy with hypertrophy and impaired contractile function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
A |
T |
4: 123,754,338 (GRCm39) |
K84M |
probably damaging |
Het |
A4gnt |
T |
A |
9: 99,502,489 (GRCm39) |
Y216* |
probably null |
Het |
Abcb1b |
A |
G |
5: 8,875,293 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
G |
A |
3: 38,506,563 (GRCm39) |
|
probably benign |
Het |
Catsperb |
A |
G |
12: 101,381,584 (GRCm39) |
T89A |
probably benign |
Het |
Ccdc15 |
C |
T |
9: 37,227,786 (GRCm39) |
S236N |
probably benign |
Het |
Cd34 |
A |
C |
1: 194,631,816 (GRCm39) |
T151P |
possibly damaging |
Het |
Col28a1 |
A |
T |
6: 8,014,810 (GRCm39) |
V865E |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,232,304 (GRCm39) |
V537E |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,011,777 (GRCm39) |
F553L |
probably damaging |
Het |
Dolk |
A |
T |
2: 30,174,743 (GRCm39) |
L434Q |
probably damaging |
Het |
Dsg2 |
C |
A |
18: 20,715,824 (GRCm39) |
D255E |
probably damaging |
Het |
Endov |
T |
C |
11: 119,391,444 (GRCm39) |
V144A |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,232,034 (GRCm39) |
N499D |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 14,978,341 (GRCm39) |
T855K |
probably benign |
Het |
Hif1a |
A |
G |
12: 73,988,784 (GRCm39) |
D557G |
probably damaging |
Het |
Idh1 |
G |
A |
1: 65,210,308 (GRCm39) |
T75I |
probably damaging |
Het |
Ighv1-37 |
A |
G |
12: 114,860,070 (GRCm39) |
S47P |
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,448,081 (GRCm39) |
A1871V |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,747,105 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,285,080 (GRCm39) |
L435P |
probably damaging |
Het |
Megf11 |
T |
A |
9: 64,416,009 (GRCm39) |
Y73N |
probably damaging |
Het |
Nfe2 |
T |
C |
15: 103,157,607 (GRCm39) |
D128G |
probably damaging |
Het |
Or13a22 |
A |
G |
7: 140,072,614 (GRCm39) |
E21G |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,771 (GRCm39) |
M59K |
probably damaging |
Het |
Pak6 |
C |
A |
2: 118,526,963 (GRCm39) |
L653I |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,655,074 (GRCm39) |
|
probably benign |
Het |
Pds5a |
A |
G |
5: 65,789,066 (GRCm39) |
V831A |
probably benign |
Het |
Prc1 |
G |
T |
7: 79,957,444 (GRCm39) |
|
probably null |
Het |
Ptprs |
C |
T |
17: 56,765,243 (GRCm39) |
G14S |
probably damaging |
Het |
Pygb |
A |
G |
2: 150,661,833 (GRCm39) |
K520E |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,883,505 (GRCm39) |
S92P |
probably benign |
Het |
Samd4b |
A |
T |
7: 28,113,638 (GRCm39) |
L109Q |
probably damaging |
Het |
Saxo4 |
T |
C |
19: 10,451,863 (GRCm39) |
*428W |
probably null |
Het |
Scn8a |
A |
T |
15: 100,853,287 (GRCm39) |
|
probably benign |
Het |
Sdc3 |
A |
G |
4: 130,545,991 (GRCm39) |
I23V |
unknown |
Het |
Sec61a2 |
A |
G |
2: 5,876,831 (GRCm39) |
Y350H |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,530,891 (GRCm39) |
Q759L |
probably damaging |
Het |
Speg |
C |
T |
1: 75,387,378 (GRCm39) |
P1378L |
probably damaging |
Het |
Spta1 |
T |
G |
1: 174,035,956 (GRCm39) |
Y1087* |
probably null |
Het |
Tenm4 |
A |
G |
7: 96,378,598 (GRCm39) |
E401G |
probably damaging |
Het |
Tom1 |
C |
A |
8: 75,781,331 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,257,577 (GRCm39) |
V1273D |
probably damaging |
Het |
Vmn2r106 |
G |
T |
17: 20,497,837 (GRCm39) |
D467E |
possibly damaging |
Het |
Washc4 |
A |
T |
10: 83,386,747 (GRCm39) |
T124S |
probably benign |
Het |
Zfp790 |
A |
G |
7: 29,529,034 (GRCm39) |
E573G |
probably benign |
Het |
|
Other mutations in Irx4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00335:Irx4
|
APN |
13 |
73,416,810 (GRCm39) |
missense |
probably benign |
|
IGL01291:Irx4
|
APN |
13 |
73,415,786 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02054:Irx4
|
APN |
13 |
73,416,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02631:Irx4
|
APN |
13 |
73,416,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02893:Irx4
|
APN |
13 |
73,416,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03310:Irx4
|
APN |
13 |
73,415,850 (GRCm39) |
missense |
possibly damaging |
0.47 |
ANU05:Irx4
|
UTSW |
13 |
73,415,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0468:Irx4
|
UTSW |
13 |
73,414,839 (GRCm39) |
splice site |
probably benign |
|
R0502:Irx4
|
UTSW |
13 |
73,414,703 (GRCm39) |
splice site |
probably null |
|
R0503:Irx4
|
UTSW |
13 |
73,414,703 (GRCm39) |
splice site |
probably null |
|
R1468:Irx4
|
UTSW |
13 |
73,413,695 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1468:Irx4
|
UTSW |
13 |
73,413,695 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1710:Irx4
|
UTSW |
13 |
73,415,757 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1733:Irx4
|
UTSW |
13 |
73,414,824 (GRCm39) |
missense |
probably benign |
0.00 |
R2076:Irx4
|
UTSW |
13 |
73,416,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Irx4
|
UTSW |
13 |
73,413,605 (GRCm39) |
missense |
probably damaging |
0.97 |
R2127:Irx4
|
UTSW |
13 |
73,413,595 (GRCm39) |
missense |
probably benign |
0.03 |
R2199:Irx4
|
UTSW |
13 |
73,413,720 (GRCm39) |
missense |
probably benign |
0.16 |
R4157:Irx4
|
UTSW |
13 |
73,413,662 (GRCm39) |
missense |
probably benign |
0.00 |
R4883:Irx4
|
UTSW |
13 |
73,415,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Irx4
|
UTSW |
13 |
73,417,032 (GRCm39) |
missense |
probably benign |
0.00 |
R4990:Irx4
|
UTSW |
13 |
73,413,626 (GRCm39) |
missense |
probably benign |
0.28 |
R4991:Irx4
|
UTSW |
13 |
73,413,626 (GRCm39) |
missense |
probably benign |
0.28 |
R5119:Irx4
|
UTSW |
13 |
73,417,040 (GRCm39) |
missense |
probably benign |
|
R5399:Irx4
|
UTSW |
13 |
73,413,658 (GRCm39) |
missense |
probably benign |
0.01 |
R5596:Irx4
|
UTSW |
13 |
73,415,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R5956:Irx4
|
UTSW |
13 |
73,415,626 (GRCm39) |
nonsense |
probably null |
|
R6271:Irx4
|
UTSW |
13 |
73,414,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6383:Irx4
|
UTSW |
13 |
73,415,832 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6630:Irx4
|
UTSW |
13 |
73,416,545 (GRCm39) |
missense |
probably benign |
0.00 |
R6631:Irx4
|
UTSW |
13 |
73,416,545 (GRCm39) |
missense |
probably benign |
0.00 |
R6632:Irx4
|
UTSW |
13 |
73,416,545 (GRCm39) |
missense |
probably benign |
0.00 |
R6633:Irx4
|
UTSW |
13 |
73,416,545 (GRCm39) |
missense |
probably benign |
0.00 |
R7378:Irx4
|
UTSW |
13 |
73,415,672 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9204:Irx4
|
UTSW |
13 |
73,416,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R9207:Irx4
|
UTSW |
13 |
73,416,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Irx4
|
UTSW |
13 |
73,417,025 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |