Incidental Mutation 'R6632:Irx4'
ID |
525245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irx4
|
Ensembl Gene |
ENSMUSG00000021604 |
Gene Name |
Iroquois homeobox 4 |
Synonyms |
|
MMRRC Submission |
044754-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R6632 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73408598-73417727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 73416545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 314
(A314S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022095]
[ENSMUST00000176684]
|
AlphaFold |
Q9QY61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022095
AA Change: A314S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000022095 Gene: ENSMUSG00000021604 AA Change: A314S
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
AA Change: A314S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134738 Gene: ENSMUSG00000021604 AA Change: A314S
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 |
noncoding transcript
Transcript: ENSMUST00000223190
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,429,186 (GRCm39) |
S758P |
possibly damaging |
Het |
Abca3 |
C |
G |
17: 24,603,444 (GRCm39) |
D545E |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,063,842 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Arpp21 |
G |
A |
9: 111,956,424 (GRCm39) |
Q518* |
probably null |
Het |
Atp9b |
G |
A |
18: 80,851,864 (GRCm39) |
R410W |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,627,222 (GRCm39) |
*265W |
probably null |
Het |
Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
Cep164 |
T |
C |
9: 45,691,088 (GRCm39) |
K1231E |
possibly damaging |
Het |
Cnot1 |
A |
G |
8: 96,499,895 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
T |
C |
8: 95,281,583 (GRCm39) |
V206A |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,411,085 (GRCm39) |
Y1647H |
probably damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,156,088 (GRCm39) |
T590A |
probably benign |
Het |
Eif4g1 |
A |
T |
16: 20,504,270 (GRCm39) |
I1068F |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,364,849 (GRCm39) |
K639N |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,105,871 (GRCm39) |
|
probably null |
Het |
Gm35315 |
A |
C |
5: 110,227,129 (GRCm39) |
Y103* |
probably null |
Het |
Hsd17b4 |
A |
G |
18: 50,312,169 (GRCm39) |
K578R |
possibly damaging |
Het |
Ice2 |
T |
C |
9: 69,335,734 (GRCm39) |
S906P |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,615,454 (GRCm39) |
W3650R |
probably benign |
Het |
Mcoln3 |
C |
T |
3: 145,833,942 (GRCm39) |
H161Y |
probably benign |
Het |
Mphosph10 |
A |
T |
7: 64,035,567 (GRCm39) |
M368K |
probably damaging |
Het |
Msh2 |
A |
C |
17: 88,020,094 (GRCm39) |
K567Q |
possibly damaging |
Het |
N4bp3 |
T |
C |
11: 51,534,776 (GRCm39) |
E429G |
possibly damaging |
Het |
Nrxn3 |
G |
A |
12: 89,159,924 (GRCm39) |
A17T |
probably damaging |
Het |
Or2aj6 |
T |
C |
16: 19,443,773 (GRCm39) |
T26A |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,552 (GRCm39) |
Y157F |
probably benign |
Het |
P4ha2 |
G |
T |
11: 54,008,474 (GRCm39) |
R227L |
probably benign |
Het |
Pfkfb4 |
G |
A |
9: 108,838,630 (GRCm39) |
|
probably null |
Het |
Ror1 |
A |
G |
4: 100,299,303 (GRCm39) |
N892S |
probably benign |
Het |
Scn9a |
G |
T |
2: 66,313,846 (GRCm39) |
D1957E |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,604,476 (GRCm39) |
Y713* |
probably null |
Het |
Serpinb1b |
T |
A |
13: 33,271,438 (GRCm39) |
F70I |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,231,460 (GRCm39) |
Y1284C |
probably damaging |
Het |
Suco |
A |
T |
1: 161,655,809 (GRCm39) |
M1030K |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,165,667 (GRCm39) |
|
probably null |
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 |
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 |
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'- AACTCAGTGACTTGGAAGACTTCG -3'
(R):5'- AGGGAAACTCAGTCTGGCTC -3'
Sequencing Primer
(F):5'- TGGAAGACTTCGACCCTCTAGATG -3'
(R):5'- AAACTCAGTCTGGCTCAGAGCTG -3'
|
Posted On |
2018-06-22 |