Incidental Mutation 'IGL03310:Irx4'
| ID |
416529 |
| 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 # |
IGL03310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73408598-73417727 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73415850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 213
(N213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022095]
[ENSMUST00000176684]
|
| AlphaFold |
Q9QY61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022095
AA Change: N213S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604
AA Change: N213S
| 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 |
possibly damaging
Transcript: ENSMUST00000176684
AA Change: N213S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604
AA Change: N213S
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
C |
T |
9: 70,685,371 (GRCm39) |
R749C |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,481,879 (GRCm39) |
F872L |
probably damaging |
Het |
| Cacna1e |
A |
C |
1: 154,317,997 (GRCm39) |
Y1462D |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,041 (GRCm39) |
T7A |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Cmtm8 |
A |
T |
9: 114,619,794 (GRCm39) |
V117D |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,308 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,744 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
T |
C |
1: 17,815,701 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,275,534 (GRCm39) |
N140K |
probably benign |
Het |
| Fktn |
A |
T |
4: 53,720,120 (GRCm39) |
K6* |
probably null |
Het |
| Fryl |
C |
A |
5: 73,293,659 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
T |
A |
8: 32,228,836 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
A |
C |
6: 136,728,044 (GRCm39) |
S319R |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,873,597 (GRCm39) |
A2299V |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,411 (GRCm39) |
S2061P |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,614,104 (GRCm39) |
T649A |
probably benign |
Het |
| Nav3 |
C |
T |
10: 109,660,433 (GRCm39) |
|
probably null |
Het |
| Npr1 |
C |
T |
3: 90,363,298 (GRCm39) |
E861K |
probably benign |
Het |
| Or52a5 |
A |
C |
7: 103,426,634 (GRCm39) |
V306G |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,400,291 (GRCm39) |
V206A |
probably benign |
Het |
| Pcdhb10 |
C |
T |
18: 37,545,374 (GRCm39) |
T150I |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,151 (GRCm39) |
C2009R |
possibly damaging |
Het |
| Trgv7 |
A |
G |
13: 19,362,664 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,409 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,165,896 (GRCm39) |
Y230F |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,694,898 (GRCm39) |
I1678N |
probably damaging |
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 |
|
|
IGL00979:Irx4
|
APN |
13 |
73,416,341 (GRCm39) |
splice site |
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 |
|
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 |
2016-08-02 |
Incidental Mutation