Incidental Mutation 'R6630:Irx4'
| ID |
525075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irx4
|
| Ensembl Gene |
ENSMUSG00000021604 |
| Gene Name |
Iroquois homeobox 4 |
| Synonyms |
|
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
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 |
|
|
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 |
|
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'- AGCTAGAACTCAGTGACTTGGAAG -3'
(R):5'- AACTCAGTCTGGCTCAGAGC -3'
Sequencing Primer
(F):5'- TGACTTGGAAGACTTCGACC -3'
(R):5'- TGTGTGTGCCAAGGACCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation