Incidental Mutation 'R8396:Irx5'
ID |
647610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irx5
|
Ensembl Gene |
ENSMUSG00000031737 |
Gene Name |
Iroquois homeobox 5 |
Synonyms |
|
MMRRC Submission |
067812-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8396 (G1)
|
Quality Score |
150.008 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
93084424-93088084 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 93086962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 298
(G298D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034184]
[ENSMUST00000210246]
|
AlphaFold |
Q9JKQ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034184
AA Change: G298D
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034184 Gene: ENSMUSG00000031737 AA Change: G298D
Domain | Start | End | E-Value | Type |
HOX
|
112 |
177 |
1.14e-12 |
SMART |
low complexity region
|
185 |
202 |
N/A |
INTRINSIC |
low complexity region
|
245 |
257 |
N/A |
INTRINSIC |
low complexity region
|
307 |
327 |
N/A |
INTRINSIC |
IRO
|
328 |
345 |
2.28e-5 |
SMART |
low complexity region
|
351 |
369 |
N/A |
INTRINSIC |
low complexity region
|
375 |
389 |
N/A |
INTRINSIC |
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210246
AA Change: G298D
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,834,301 (GRCm39) |
V60A |
probably benign |
Het |
Bmp8a |
T |
C |
4: 123,218,952 (GRCm39) |
H152R |
probably benign |
Het |
C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,289,088 (GRCm39) |
V417E |
probably benign |
Het |
Cfap58 |
T |
A |
19: 48,017,540 (GRCm39) |
M800K |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,759,112 (GRCm39) |
E335D |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
Shc4 |
A |
G |
2: 125,471,617 (GRCm39) |
I600T |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
probably damaging |
Het |
|
Other mutations in Irx5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01735:Irx5
|
APN |
8 |
93,087,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01870:Irx5
|
APN |
8 |
93,086,405 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01985:Irx5
|
APN |
8 |
93,086,155 (GRCm39) |
splice site |
probably benign |
|
IGL02481:Irx5
|
APN |
8 |
93,087,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Irx5
|
APN |
8 |
93,087,400 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03257:Irx5
|
APN |
8 |
93,087,258 (GRCm39) |
missense |
probably benign |
0.00 |
R0784:Irx5
|
UTSW |
8 |
93,087,118 (GRCm39) |
missense |
probably benign |
|
R1498:Irx5
|
UTSW |
8 |
93,086,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R1762:Irx5
|
UTSW |
8 |
93,086,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Irx5
|
UTSW |
8 |
93,086,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Irx5
|
UTSW |
8 |
93,086,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Irx5
|
UTSW |
8 |
93,086,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Irx5
|
UTSW |
8 |
93,084,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Irx5
|
UTSW |
8 |
93,086,793 (GRCm39) |
missense |
probably benign |
0.00 |
R3942:Irx5
|
UTSW |
8 |
93,086,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R4361:Irx5
|
UTSW |
8 |
93,085,025 (GRCm39) |
missense |
probably damaging |
0.99 |
R4574:Irx5
|
UTSW |
8 |
93,084,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R4994:Irx5
|
UTSW |
8 |
93,087,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Irx5
|
UTSW |
8 |
93,086,541 (GRCm39) |
missense |
probably benign |
0.01 |
R5884:Irx5
|
UTSW |
8 |
93,087,258 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5988:Irx5
|
UTSW |
8 |
93,087,299 (GRCm39) |
nonsense |
probably null |
|
R6017:Irx5
|
UTSW |
8 |
93,084,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R6339:Irx5
|
UTSW |
8 |
93,086,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R6466:Irx5
|
UTSW |
8 |
93,086,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R6595:Irx5
|
UTSW |
8 |
93,086,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7344:Irx5
|
UTSW |
8 |
93,086,183 (GRCm39) |
missense |
probably benign |
0.24 |
R8166:Irx5
|
UTSW |
8 |
93,086,712 (GRCm39) |
splice site |
probably null |
|
R8215:Irx5
|
UTSW |
8 |
93,086,241 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8695:Irx5
|
UTSW |
8 |
93,087,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R8991:Irx5
|
UTSW |
8 |
93,087,135 (GRCm39) |
nonsense |
probably null |
|
R9412:Irx5
|
UTSW |
8 |
93,086,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R9522:Irx5
|
UTSW |
8 |
93,087,259 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9708:Irx5
|
UTSW |
8 |
93,087,118 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGAATCAGGTTGGTGGATG -3'
(R):5'- CGCCGTGTAATAAAGAGGCC -3'
Sequencing Primer
(F):5'- CTCTGACAGCCTGGGTTTCG -3'
(R):5'- GCTGCCTCCAAGCGTTTG -3'
|
Posted On |
2020-09-02 |