Incidental Mutation 'R2199:Irx4'
ID |
238576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irx4
|
Ensembl Gene |
ENSMUSG00000021604 |
Gene Name |
Iroquois homeobox 4 |
Synonyms |
|
MMRRC Submission |
040201-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.873)
|
Stock # |
R2199 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
73408598-73417727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73413720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 63
(E63D)
|
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: E63D
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022095 Gene: ENSMUSG00000021604 AA Change: E63D
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: E63D
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134738 Gene: ENSMUSG00000021604 AA Change: E63D
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,554,598 (GRCm39) |
I119V |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,096,037 (GRCm39) |
|
probably null |
Het |
Ccm2 |
T |
C |
11: 6,540,790 (GRCm39) |
V216A |
probably damaging |
Het |
Ctdspl2 |
T |
C |
2: 121,817,510 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,283,527 (GRCm39) |
T2769A |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,550,792 (GRCm39) |
V3165M |
possibly damaging |
Het |
Dnajc1 |
A |
C |
2: 18,313,710 (GRCm39) |
F137C |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,765,378 (GRCm39) |
D924E |
possibly damaging |
Het |
Gnrhr |
T |
C |
5: 86,345,677 (GRCm39) |
N3S |
probably benign |
Het |
Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,475,033 (GRCm39) |
|
probably null |
Het |
Il20 |
T |
A |
1: 130,838,476 (GRCm39) |
I74L |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,959,738 (GRCm39) |
K115R |
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Kctd8 |
C |
A |
5: 69,498,588 (GRCm39) |
M19I |
probably benign |
Het |
Klhl31 |
T |
C |
9: 77,557,383 (GRCm39) |
L33P |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,382,709 (GRCm39) |
C3691S |
probably damaging |
Het |
Lrrc39 |
A |
G |
3: 116,364,610 (GRCm39) |
D167G |
probably damaging |
Het |
Lrrd1 |
A |
T |
5: 3,916,478 (GRCm39) |
I832L |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 102,904,774 (GRCm39) |
V1620A |
probably damaging |
Het |
Ltbr |
T |
C |
6: 125,289,024 (GRCm39) |
K213E |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,039,039 (GRCm39) |
D883E |
possibly damaging |
Het |
Nherf2 |
T |
C |
17: 24,859,570 (GRCm39) |
E174G |
probably null |
Het |
Nmt1 |
T |
A |
11: 102,954,682 (GRCm39) |
S405T |
probably damaging |
Het |
Nsd3 |
G |
T |
8: 26,156,073 (GRCm39) |
V547F |
probably damaging |
Het |
Or4c110 |
A |
G |
2: 88,831,894 (GRCm39) |
V246A |
probably damaging |
Het |
Or7g16 |
C |
A |
9: 18,727,219 (GRCm39) |
V124F |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,407,404 (GRCm39) |
K569R |
possibly damaging |
Het |
Otud7b |
A |
G |
3: 96,063,089 (GRCm39) |
Y776C |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,006,341 (GRCm39) |
I73T |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,350,835 (GRCm39) |
H3890L |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,015,085 (GRCm39) |
T948A |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,307,393 (GRCm39) |
I198V |
probably benign |
Het |
Smg7 |
C |
A |
1: 152,730,079 (GRCm39) |
D405Y |
probably damaging |
Het |
Synpo2l |
A |
G |
14: 20,711,987 (GRCm39) |
L211S |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,145,895 (GRCm39) |
Y1601C |
probably benign |
Het |
Traf4 |
T |
C |
11: 78,050,806 (GRCm39) |
Y450C |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,131,077 (GRCm39) |
K239E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,585,150 (GRCm39) |
G20302S |
probably damaging |
Het |
Ube2o |
A |
G |
11: 116,435,571 (GRCm39) |
S406P |
probably benign |
Het |
Xrn2 |
C |
T |
2: 146,866,670 (GRCm39) |
A80V |
probably damaging |
Het |
Zfp616 |
C |
T |
11: 73,975,456 (GRCm39) |
T575I |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACACGTGAGGTCCTTGAG -3'
(R):5'- CTTAGCAAACTCAAGGTACGGGG -3'
Sequencing Primer
(F):5'- AGGTCCTTGAGGGTCCAG -3'
(R):5'- CAAGGTACGGGGCGGGG -3'
|
Posted On |
2014-10-02 |