Incidental Mutation 'R4795:Isl1'
ID 368971
Institutional Source Beutler Lab
Gene Symbol Isl1
Ensembl Gene ENSMUSG00000042258
Gene Name ISL1 transcription factor, LIM/homeodomain
Synonyms Islet 1
MMRRC Submission 041996-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4795 (G1)
Quality Score 215
Status Validated
Chromosome 13
Chromosomal Location 116434817-116446225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116441966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 89 (N89S)
Ref Sequence ENSEMBL: ENSMUSP00000135567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036060] [ENSMUST00000176044]
AlphaFold P61372
Predicted Effect probably benign
Transcript: ENSMUST00000036060
AA Change: N89S

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044879
Gene: ENSMUSG00000042258
AA Change: N89S

DomainStartEndE-ValueType
LIM 16 70 1.39e-13 SMART
LIM 78 132 4.99e-15 SMART
HOX 181 243 1.83e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176044
AA Change: N89S

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135567
Gene: ENSMUSG00000042258
AA Change: N89S

DomainStartEndE-ValueType
LIM 16 70 1.39e-13 SMART
LIM 78 132 4.99e-15 SMART
HOX 181 243 1.83e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176812
SMART Domains Protein: ENSMUSP00000135793
Gene: ENSMUSG00000042258

DomainStartEndE-ValueType
LIM 1 40 1.3e-5 SMART
HOX 89 151 9.4e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195602
Meta Mutation Damage Score 0.0711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (123/125)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation fail to develop motor neurons and die by embryonic day 11.5 with abnormal heart and pancreas development. Mice heterozygous for an ENU mutation exhibit chronic otitis media and hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,969,772 (GRCm39) L2259R probably damaging Het
Acd A G 8: 106,427,647 (GRCm39) S2P possibly damaging Het
Acsf3 A G 8: 123,506,896 (GRCm39) Y63C possibly damaging Het
Adam21 T C 12: 81,607,748 (GRCm39) I5V probably benign Het
Adamts6 C A 13: 104,580,636 (GRCm39) S783* probably null Het
Adamtsl1 T C 4: 86,162,006 (GRCm39) probably null Het
Adck2 T A 6: 39,553,327 (GRCm39) S313T probably benign Het
Adgb A G 10: 10,233,616 (GRCm39) I1285T probably benign Het
Angptl1 T A 1: 156,688,153 (GRCm39) M485K possibly damaging Het
Ank3 G A 10: 69,694,095 (GRCm39) V289I probably benign Het
Atp13a4 A G 16: 29,308,826 (GRCm39) probably null Het
Atp1a1 A G 3: 101,491,091 (GRCm39) L648P probably benign Het
Atp2a3 A G 11: 72,863,855 (GRCm39) I194V probably benign Het
Bglap A C 3: 88,291,712 (GRCm39) I4S unknown Het
Cacna1b T A 2: 24,527,499 (GRCm39) T1621S possibly damaging Het
Ccdc112 T A 18: 46,420,739 (GRCm39) Q337L probably benign Het
Ccdc121rt3 A G 5: 112,503,165 (GRCm39) S180P possibly damaging Het
Cd34 T G 1: 194,633,319 (GRCm39) S194A probably damaging Het
Cdh20 A G 1: 104,868,989 (GRCm39) D160G probably damaging Het
Clock T C 5: 76,413,763 (GRCm39) K44R probably damaging Het
Commd9 A G 2: 101,729,241 (GRCm39) N116D probably benign Het
Dab2 C A 15: 6,459,092 (GRCm39) P335T probably benign Het
Epb41l3 T A 17: 69,555,714 (GRCm39) probably null Het
Epha2 A G 4: 141,049,727 (GRCm39) probably null Het
Fam78b T C 1: 166,906,216 (GRCm39) V125A probably benign Het
Fars2 A T 13: 36,721,400 (GRCm39) E448V probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glyr1 A C 16: 4,865,622 (GRCm39) V44G probably benign Het
Gm1527 A G 3: 28,974,812 (GRCm39) I542V possibly damaging Het
Gm18856 C A 13: 14,139,793 (GRCm39) probably benign Het
Gm44501 A G 17: 40,889,605 (GRCm39) K40E probably benign Het
Hdhd5 T C 6: 120,500,407 (GRCm39) H97R probably benign Het
Hmcn1 A G 1: 150,629,362 (GRCm39) V965A probably benign Het
Hsf5 A G 11: 87,526,446 (GRCm39) M373V probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Iigp1 T A 18: 60,522,964 (GRCm39) F27L probably benign Het
Itga1 C A 13: 115,171,921 (GRCm39) W61C probably damaging Het
Itga5 T C 15: 103,256,187 (GRCm39) R922G probably benign Het
Kbtbd3 G A 9: 4,331,073 (GRCm39) W482* probably null Het
Kcnq1 A G 7: 142,736,494 (GRCm39) T168A probably benign Het
Lrch3 A G 16: 32,826,074 (GRCm39) N631S probably damaging Het
Lrrk1 T A 7: 65,912,413 (GRCm39) I1716F possibly damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Map4 T C 9: 109,864,331 (GRCm39) S519P probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mrtfa C T 15: 80,901,234 (GRCm39) S419N probably damaging Het
Muc5b A G 7: 141,403,304 (GRCm39) E755G unknown Het
Ncaph2 T G 15: 89,255,010 (GRCm39) V478G probably damaging Het
Ncbp1 A G 4: 46,152,967 (GRCm39) R247G possibly damaging Het
Necab1 G T 4: 15,111,208 (GRCm39) D73E possibly damaging Het
Nedd9 T C 13: 41,471,376 (GRCm39) K208E probably benign Het
Nfyb A T 10: 82,588,202 (GRCm39) probably benign Het
Nol4 T C 18: 23,054,944 (GRCm39) Q162R probably damaging Het
Nwd2 G A 5: 63,962,776 (GRCm39) D787N probably benign Het
Olfr908 T A 9: 38,427,799 (GRCm39) M157K probably damaging Het
Or10a5 A T 7: 106,636,121 (GRCm39) Y253F probably benign Het
Or11g7 A C 14: 50,690,874 (GRCm39) M122L probably damaging Het
Or13a22 A G 7: 140,072,920 (GRCm39) D123G probably damaging Het
Or5ac23 C T 16: 59,149,213 (GRCm39) V220I probably benign Het
Or6a2 C T 7: 106,600,542 (GRCm39) G175D probably damaging Het
Or6e1 A G 14: 54,520,004 (GRCm39) M116T probably damaging Het
Orai3 T C 7: 127,373,060 (GRCm39) V187A probably benign Het
Parn T C 16: 13,424,066 (GRCm39) T444A probably benign Het
Pcdh11x A C X: 119,309,937 (GRCm39) N460T probably damaging Het
Pcnt C T 10: 76,205,858 (GRCm39) R2516H probably benign Het
Pde4d T A 13: 110,074,705 (GRCm39) probably benign Het
Pdgfra A G 5: 75,349,972 (GRCm39) N952S probably benign Het
Pgm2 A G 5: 64,261,217 (GRCm39) Y237C probably damaging Het
Plcb2 A G 2: 118,541,605 (GRCm39) V975A probably benign Het
Polk T C 13: 96,625,764 (GRCm39) T347A probably benign Het
Ppp6r1 C T 7: 4,644,053 (GRCm39) V430M possibly damaging Het
Ptges2 C A 2: 32,286,334 (GRCm39) C16* probably null Het
Relb A T 7: 19,353,764 (GRCm39) I38N probably damaging Het
Runx1t1 T A 4: 13,837,767 (GRCm39) N51K probably damaging Het
Samsn1 A G 16: 75,680,733 (GRCm39) probably benign Het
Scrn1 A G 6: 54,497,754 (GRCm39) V279A possibly damaging Het
Sec31b A G 19: 44,520,185 (GRCm39) S200P probably benign Het
Selp A G 1: 163,972,475 (GRCm39) T705A probably benign Het
Slc2a1 G A 4: 118,989,642 (GRCm39) R61Q probably damaging Het
Slit3 G A 11: 35,542,647 (GRCm39) probably null Het
Smo T A 6: 29,755,573 (GRCm39) V415E probably damaging Het
Spag8 C A 4: 43,652,035 (GRCm39) V350L possibly damaging Het
Tbck T G 3: 132,413,559 (GRCm39) L132R possibly damaging Het
Thnsl1 T A 2: 21,216,856 (GRCm39) C203* probably null Het
Tm9sf2 T A 14: 122,387,252 (GRCm39) probably null Het
Tmem131 A G 1: 36,880,757 (GRCm39) V171A probably damaging Het
Tmem209 T C 6: 30,501,954 (GRCm39) T83A probably benign Het
Tmem63a T C 1: 180,782,416 (GRCm39) Y138H probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Trpv2 A G 11: 62,472,006 (GRCm39) D66G possibly damaging Het
Trrap T A 5: 144,769,298 (GRCm39) I2620N probably benign Het
Ttyh3 A T 5: 140,620,541 (GRCm39) I232N probably damaging Het
Ube2dnl1 G A X: 113,815,482 (GRCm39) C119Y possibly damaging Het
Unc13c T A 9: 73,839,469 (GRCm39) S461C probably damaging Het
Unc80 T G 1: 66,567,100 (GRCm39) I902S probably damaging Het
Usp42 C A 5: 143,709,692 (GRCm39) G170W probably damaging Het
Vldlr T C 19: 27,216,252 (GRCm39) probably null Het
Ywhab A G 2: 163,857,265 (GRCm39) Y180C probably damaging Het
Zan A T 5: 137,379,112 (GRCm39) C5329* probably null Het
Zbtb40 C T 4: 136,725,953 (GRCm39) M535I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp318 A G 17: 46,722,988 (GRCm39) T1664A probably benign Het
Zfp7 T A 15: 76,775,546 (GRCm39) C529* probably null Het
Zfp768 T C 7: 126,942,547 (GRCm39) Q527R possibly damaging Het
Zfp975 T A 7: 42,314,570 (GRCm39) probably null Het
Other mutations in Isl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00676:Isl1 APN 13 116,439,589 (GRCm39) missense probably benign 0.02
IGL03251:Isl1 APN 13 116,441,985 (GRCm39) missense probably benign
R1897:Isl1 UTSW 13 116,439,866 (GRCm39) missense probably benign 0.12
R1928:Isl1 UTSW 13 116,444,953 (GRCm39) missense probably damaging 1.00
R2940:Isl1 UTSW 13 116,444,835 (GRCm39) missense possibly damaging 0.53
R4062:Isl1 UTSW 13 116,439,626 (GRCm39) missense probably benign 0.27
R4796:Isl1 UTSW 13 116,441,966 (GRCm39) missense probably benign 0.41
R4836:Isl1 UTSW 13 116,439,619 (GRCm39) missense probably benign 0.06
R4839:Isl1 UTSW 13 116,438,220 (GRCm39) missense probably damaging 1.00
R4870:Isl1 UTSW 13 116,444,806 (GRCm39) splice site probably benign
R5231:Isl1 UTSW 13 116,438,193 (GRCm39) missense probably benign 0.17
R6220:Isl1 UTSW 13 116,439,803 (GRCm39) missense probably benign 0.24
R7231:Isl1 UTSW 13 116,439,826 (GRCm39) missense probably benign 0.06
R8191:Isl1 UTSW 13 116,441,954 (GRCm39) missense probably benign
R8493:Isl1 UTSW 13 116,441,835 (GRCm39) missense possibly damaging 0.88
R8969:Isl1 UTSW 13 116,439,857 (GRCm39) missense possibly damaging 0.70
R9273:Isl1 UTSW 13 116,444,902 (GRCm39) nonsense probably null
R9325:Isl1 UTSW 13 116,436,105 (GRCm39) missense probably damaging 1.00
R9614:Isl1 UTSW 13 116,441,924 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTATGATTTAGCCCCGCCTG -3'
(R):5'- CAGGCAGGTCAGGTTTATGG -3'

Sequencing Primer
(F):5'- AGGAGTACCTGCCATTTGC -3'
(R):5'- CAGGTTTATGGCCCGGGTCTC -3'
Posted On 2016-02-04