Incidental Mutation 'R5575:Isx'
ID 437170
Institutional Source Beutler Lab
Gene Symbol Isx
Ensembl Gene ENSMUSG00000031621
Gene Name intestine specific homeobox
Synonyms 9130012O13Rik
MMRRC Submission 043130-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5575 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 75599801-75620134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75619429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 207 (L207P)
Ref Sequence ENSEMBL: ENSMUSP00000034034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034034] [ENSMUST00000174427]
AlphaFold A1A546
Predicted Effect probably benign
Transcript: ENSMUST00000034034
AA Change: L207P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000034034
Gene: ENSMUSG00000031621
AA Change: L207P

DomainStartEndE-ValueType
HOX 78 140 1.34e-27 SMART
Predicted Effect silent
Transcript: ENSMUST00000174427
SMART Domains Protein: ENSMUSP00000134368
Gene: ENSMUSG00000031621

DomainStartEndE-ValueType
HOX 78 140 1.34e-27 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 97% (57/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,916,195 (GRCm39) probably null Het
Adrm1 T G 2: 179,817,509 (GRCm39) D325E probably benign Het
Anapc4 T A 5: 53,013,213 (GRCm39) V433E probably damaging Het
Aplf A C 6: 87,623,129 (GRCm39) C338G probably benign Het
Atad5 A G 11: 79,991,149 (GRCm39) T681A probably benign Het
B9d2 A G 7: 25,382,757 (GRCm39) T44A probably damaging Het
Catsperg2 T C 7: 29,405,015 (GRCm39) K81R possibly damaging Het
Cep170b T A 12: 112,702,066 (GRCm39) H286Q probably damaging Het
Cfap61 G A 2: 145,859,313 (GRCm39) V434I probably benign Het
Col5a2 A T 1: 45,417,642 (GRCm39) I1311N probably damaging Het
Col9a3 A T 2: 180,240,639 (GRCm39) probably benign Het
Dsc2 A T 18: 20,168,447 (GRCm39) C671S probably damaging Het
Eif5 T C 12: 111,508,740 (GRCm39) V245A probably damaging Het
Epha5 G A 5: 84,564,361 (GRCm39) R2W probably damaging Het
Gabrb2 G A 11: 42,420,365 (GRCm39) probably benign Het
Gm3453 A G 14: 5,978,205 (GRCm38) V66A possibly damaging Het
Gna15 T C 10: 81,359,707 (GRCm39) I28V probably damaging Het
Hk3 A T 13: 55,162,583 (GRCm39) D88E probably damaging Het
Hmbox1 T C 14: 65,060,613 (GRCm39) T375A probably benign Het
Ibsp A T 5: 104,457,925 (GRCm39) E154V possibly damaging Het
Il7r A G 15: 9,508,273 (GRCm39) S350P probably benign Het
Krt35 T C 11: 99,985,450 (GRCm39) E197G probably damaging Het
Krt78 G A 15: 101,855,787 (GRCm39) Q675* probably null Het
Marchf1 T A 8: 66,920,962 (GRCm39) V217E probably damaging Het
Mertk T C 2: 128,578,485 (GRCm39) I157T probably damaging Het
Mmab A T 5: 114,574,832 (GRCm39) L147Q probably damaging Het
Ndst4 T A 3: 125,231,479 (GRCm39) V16D probably benign Het
Niban1 A T 1: 151,593,991 (GRCm39) H892L probably benign Het
Ogdhl T C 14: 32,047,804 (GRCm39) L18P possibly damaging Het
Pikfyve A C 1: 65,312,889 (GRCm39) H2089P probably damaging Het
Plxna1 A T 6: 89,301,523 (GRCm39) L1501Q possibly damaging Het
Ppp2r5c T C 12: 110,519,266 (GRCm39) F246S probably damaging Het
Ptbp2 A T 3: 119,514,432 (GRCm39) probably null Het
Ptbp2 G A 3: 119,514,438 (GRCm39) P463L possibly damaging Het
Rad51 A G 2: 118,964,914 (GRCm39) D274G probably benign Het
Ranbp2 T C 10: 58,328,405 (GRCm39) V2807A probably damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rp1l1 C T 14: 64,268,433 (GRCm39) H1340Y probably benign Het
Ryr1 T A 7: 28,778,118 (GRCm39) H2133L possibly damaging Het
Scgb1c1 G A 7: 140,426,024 (GRCm39) G40E probably damaging Het
Shank2 T C 7: 143,963,871 (GRCm39) I703T probably damaging Het
Spag17 G A 3: 99,961,138 (GRCm39) A975T possibly damaging Het
Supt6 T C 11: 78,119,787 (GRCm39) D400G probably damaging Het
Synrg T C 11: 83,900,378 (GRCm39) probably null Het
Thada A C 17: 84,723,827 (GRCm39) probably null Het
Themis3 A G 17: 66,862,321 (GRCm39) S546P possibly damaging Het
Tinf2 T C 14: 55,917,631 (GRCm39) D286G probably benign Het
Tmem67 A T 4: 12,047,886 (GRCm39) V815D possibly damaging Het
Trpm1 T C 7: 63,870,018 (GRCm39) L441P possibly damaging Het
Vapa A G 17: 65,920,247 (GRCm39) V16A probably benign Het
Vmn2r38 A T 7: 9,078,635 (GRCm39) Y582* probably null Het
Vps13b A T 15: 35,930,065 (GRCm39) K3934I probably damaging Het
Wrn G A 8: 33,826,158 (GRCm39) T168I probably benign Het
Other mutations in Isx
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0559:Isx UTSW 8 75,600,369 (GRCm39) missense probably benign 0.08
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
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'- AGATTAGGATTCATTCTTTCCCTCTGG -3'
(R):5'- AAGCTCTGGGTAGCTTCCTG -3'

Sequencing Primer
(F):5'- TCTGGTCTCTCCTGACAGGG -3'
(R):5'- CTCTGGGTAGCTTCCTGGACTG -3'
Posted On 2016-10-26