Incidental Mutation 'R5596:Irx4'
ID |
437843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irx4
|
Ensembl Gene |
ENSMUSG00000021604 |
Gene Name |
Iroquois homeobox 4 |
Synonyms |
|
MMRRC Submission |
043148-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R5596 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73408598-73417727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73415799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 196
(N196S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022095]
[ENSMUST00000176684]
|
AlphaFold |
Q9QY61 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022095
AA Change: N196S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022095 Gene: ENSMUSG00000021604 AA Change: N196S
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 damaging
Transcript: ENSMUST00000176684
AA Change: N196S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134738 Gene: ENSMUSG00000021604 AA Change: N196S
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 |
|
Meta Mutation Damage Score |
0.9584 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (40/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTGCAGAGCCTGTCTCCAG -3'
(R):5'- GTAAACCAGTCCACCAGTCTG -3'
Sequencing Primer
(F):5'- AGCACCGGAAGAACCCGTA -3'
(R):5'- GAGACACCCCATACTTTTCAGG -3'
|
Posted On |
2016-10-26 |