Incidental Mutation 'R6663:Irx2'
| ID |
526884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irx2
|
| Ensembl Gene |
ENSMUSG00000001504 |
| Gene Name |
Iroquois homeobox 2 |
| Synonyms |
IRX6 |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.710)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
80.0075 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
72776939-72782317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72777248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 23
(Y23C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074372]
[ENSMUST00000167067]
[ENSMUST00000172353]
|
| AlphaFold |
P81066 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074372
AA Change: Y23C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: Y23C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
78 |
N/A |
INTRINSIC |
|
HOX
|
115 |
180 |
1.14e-12 |
SMART |
|
low complexity region
|
188 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
IRO
|
325 |
342 |
2.28e-5 |
SMART |
|
low complexity region
|
346 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163393
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167067
|
| SMART Domains |
Protein: ENSMUSP00000127963
Gene: ENSMUSG00000001504
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
21 |
86 |
1.14e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177421
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly damaging |
Het |
|
| Other mutations in Irx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02749:Irx2
|
APN |
13 |
72,779,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Irx2
|
UTSW |
13 |
72,778,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Irx2
|
UTSW |
13 |
72,780,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0931:Irx2
|
UTSW |
13 |
72,779,675 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0932:Irx2
|
UTSW |
13 |
72,779,675 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1782:Irx2
|
UTSW |
13 |
72,779,585 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2844:Irx2
|
UTSW |
13 |
72,779,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Irx2
|
UTSW |
13 |
72,779,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Irx2
|
UTSW |
13 |
72,780,729 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5219:Irx2
|
UTSW |
13 |
72,779,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Irx2
|
UTSW |
13 |
72,779,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Irx2
|
UTSW |
13 |
72,779,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7411:Irx2
|
UTSW |
13 |
72,777,182 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7487:Irx2
|
UTSW |
13 |
72,778,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Irx2
|
UTSW |
13 |
72,777,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Irx2
|
UTSW |
13 |
72,779,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7953:Irx2
|
UTSW |
13 |
72,777,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9083:Irx2
|
UTSW |
13 |
72,777,392 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Irx2
|
UTSW |
13 |
72,777,208 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCCTCACTCCTGACTGCAG -3'
(R):5'- AAGCAGTTACCACGTAGGAC -3'
Sequencing Primer
(F):5'- ACTCCTGACTGCAGACTCC -3'
(R):5'- CGTAGGACGGGAAGCCG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation