Incidental Mutation 'R5259:Isx'
ID401305
Institutional Source Beutler Lab
Gene Symbol Isx
Ensembl Gene ENSMUSG00000031621
Gene Nameintestine specific homeobox
Synonyms9130012O13Rik
MMRRC Submission 042856-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5259 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location74873173-74893506 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74892845 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 222 (T222A)
Ref Sequence ENSEMBL: ENSMUSP00000034034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034034] [ENSMUST00000174427]
Predicted Effect probably benign
Transcript: ENSMUST00000034034
AA Change: T222A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000034034
Gene: ENSMUSG00000031621
AA Change: T222A

DomainStartEndE-ValueType
HOX 78 140 1.34e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174427
AA Change: Y208C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134368
Gene: ENSMUSG00000031621
AA Change: Y208C

DomainStartEndE-ValueType
HOX 78 140 1.34e-27 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik T C 8: 45,962,336 E211G probably benign Het
2310035C23Rik A G 1: 105,721,376 S747G probably benign Het
Abhd18 A C 3: 40,916,890 T50P probably damaging Het
Adam5 T A 8: 24,810,834 L226F possibly damaging Het
Adi1 T C 12: 28,675,545 probably benign Het
Apc T C 18: 34,314,290 V1379A probably benign Het
Atp13a4 G A 16: 29,456,610 T352M probably damaging Het
Baat T A 4: 49,490,070 N338I probably benign Het
Bdnf A G 2: 109,723,982 T234A probably benign Het
Catsperd A C 17: 56,660,235 T539P possibly damaging Het
Cd109 A T 9: 78,710,152 T1311S probably benign Het
Ceacam18 T C 7: 43,637,112 probably null Het
Chsy3 T A 18: 59,410,246 S819T probably damaging Het
Col4a4 G T 1: 82,453,893 R1557S unknown Het
Ddx18 A G 1: 121,567,789 probably null Het
Depdc5 C T 5: 32,938,291 P824L probably damaging Het
Fam13c C G 10: 70,441,063 A17G probably benign Het
Fermt1 T C 2: 132,906,765 Y646C probably damaging Het
Fra10ac1 A G 19: 38,199,662 S229P probably benign Het
Gbp8 A T 5: 105,050,979 H23Q probably benign Het
Gdf2 T C 14: 33,944,831 V170A probably benign Het
Gm15723 T C 10: 114,816,817 noncoding transcript Het
Gm4788 C T 1: 139,740,495 C300Y probably damaging Het
Gm5415 A T 1: 32,545,517 C437* probably null Het
Gm815 G A 19: 26,886,406 V16I unknown Het
Ighv1-75 T A 12: 115,834,177 K42* probably null Het
Itgax G A 7: 128,148,278 D1018N probably damaging Het
Kcnc4 A G 3: 107,448,085 F349S probably damaging Het
Lama3 A C 18: 12,465,508 S991R probably damaging Het
Larp4b C T 13: 9,158,184 A398V probably damaging Het
Ltbp1 A G 17: 75,363,362 N1466S probably benign Het
Metrn A T 17: 25,796,540 L67Q probably damaging Het
Morc1 G A 16: 48,630,769 R937Q probably benign Het
Mta3 A G 17: 83,804,574 Y577C probably damaging Het
Nalcn A G 14: 123,515,651 F308L possibly damaging Het
Nat8 A T 6: 85,830,891 S87T probably benign Het
Olfr319 A G 11: 58,701,952 N84D probably benign Het
Olfr319 A C 11: 58,701,953 N84T possibly damaging Het
Olfr857 A G 9: 19,712,813 probably null Het
Oplah A T 15: 76,301,210 probably null Het
Pcdh15 A T 10: 74,396,372 I668L possibly damaging Het
Pecr A G 1: 72,277,285 probably null Het
Plxna4 T C 6: 32,517,021 E220G possibly damaging Het
Pnmal2 A G 7: 16,945,274 K61R unknown Het
Prl8a6 C T 13: 27,436,196 W81* probably null Het
Rab33b C T 3: 51,484,612 probably benign Het
Rbm33 T A 5: 28,352,774 probably null Het
Reln C T 5: 22,103,397 V325M possibly damaging Het
Rheb A C 5: 24,803,745 D158E probably benign Het
Rhebl1 T A 15: 98,880,583 probably benign Het
Rmdn2 T A 17: 79,668,017 Y312N probably damaging Het
Scamp1 T G 13: 94,232,086 N58T probably benign Het
Slc35a1 C T 4: 34,683,322 V53M probably benign Het
Slc35f3 A T 8: 126,389,133 L266F probably damaging Het
Slc45a2 C T 15: 11,027,785 T480I probably damaging Het
Ticrr T A 7: 79,694,723 S1445R probably benign Het
Ttc23l T C 15: 10,515,150 N381D probably damaging Het
Usp17ld T A 7: 103,250,574 K384* probably null Het
Vmn1r20 T A 6: 57,432,065 Y125* probably null Het
Zfp738 G T 13: 67,669,686 Q729K probably benign Het
Zfp770 T A 2: 114,197,193 M132L probably benign Het
Other mutations in Isx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Isx APN 8 74892678 missense probably benign 0.02
IGL02220:Isx APN 8 74892705 missense possibly damaging 0.86
R0219:Isx UTSW 8 74889961 splice site probably null
R0559:Isx UTSW 8 74873741 missense probably benign 0.08
R0627:Isx UTSW 8 74892700 missense possibly damaging 0.88
R4326:Isx UTSW 8 74873656 missense probably benign 0.01
R4510:Isx UTSW 8 74873670 missense probably benign 0.00
R4511:Isx UTSW 8 74873670 missense probably benign 0.00
R4720:Isx UTSW 8 74873859 critical splice donor site probably null
R5023:Isx UTSW 8 74892714 missense probably benign 0.35
R5575:Isx UTSW 8 74892801 missense probably benign 0.00
R5909:Isx UTSW 8 74892798 missense probably benign 0.39
R7459:Isx UTSW 8 74892764 missense probably benign
R7744:Isx UTSW 8 74873657 missense possibly damaging 0.90
RF022:Isx UTSW 8 74873846 missense probably damaging 0.99
Z1177:Isx UTSW 8 74891859 frame shift probably null
Predicted Primers PCR Primer
(F):5'- CTGACACCCACTGCTATGAC -3'
(R):5'- GACTCGAGCTGTCCTTTGATGTC -3'

Sequencing Primer
(F):5'- ACCCACTGCTATGACTACATTGG -3'
(R):5'- GCCAGTACAGTCTTTAATGGCAAGC -3'
Posted On2016-07-06