Incidental Mutation 'R0559:Isx'
| ID |
45792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isx
|
| Ensembl Gene |
ENSMUSG00000031621 |
| Gene Name |
intestine specific homeobox |
| Synonyms |
9130012O13Rik |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
75599801-75620134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75600369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 34
(K34R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034034]
[ENSMUST00000174427]
|
| AlphaFold |
A1A546 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034034
AA Change: K34R
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034034
Gene: ENSMUSG00000031621
AA Change: K34R
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
78 |
140 |
1.34e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174427
AA Change: K34R
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134368
Gene: ENSMUSG00000031621
AA Change: K34R
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
78 |
140 |
1.34e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.0637 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile up to 1 year of age and display no histological abnormalities of the gut. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Isx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Isx
|
APN |
8 |
75,619,306 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02220:Isx
|
APN |
8 |
75,619,333 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0219:Isx
|
UTSW |
8 |
75,616,589 (GRCm39) |
splice site |
probably null |
|
|
R0627:Isx
|
UTSW |
8 |
75,619,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4326:Isx
|
UTSW |
8 |
75,600,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4510:Isx
|
UTSW |
8 |
75,600,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4511:Isx
|
UTSW |
8 |
75,600,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4720:Isx
|
UTSW |
8 |
75,600,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5023:Isx
|
UTSW |
8 |
75,619,342 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5259:Isx
|
UTSW |
8 |
75,619,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5575:Isx
|
UTSW |
8 |
75,619,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5909:Isx
|
UTSW |
8 |
75,619,426 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7459:Isx
|
UTSW |
8 |
75,619,392 (GRCm39) |
missense |
probably benign |
|
|
R7744:Isx
|
UTSW |
8 |
75,600,285 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8152:Isx
|
UTSW |
8 |
75,616,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Isx
|
UTSW |
8 |
75,616,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9279:Isx
|
UTSW |
8 |
75,600,434 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9288:Isx
|
UTSW |
8 |
75,619,439 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9638:Isx
|
UTSW |
8 |
75,619,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF022:Isx
|
UTSW |
8 |
75,600,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Isx
|
UTSW |
8 |
75,618,487 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTCCCTGTGTCCAAGGAATTG -3'
(R):5'- AGAGATCATTTGAGTCTCCCACCCC -3'
Sequencing Primer
(F):5'- GTGGCTGAATTACCCAGCATC -3'
(R):5'- CTTCCCCAAGAACAAAAGAAAATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation