Incidental Mutation 'R2940:Isl1'
ID 255150
Institutional Source Beutler Lab
Gene Symbol Isl1
Ensembl Gene ENSMUSG00000042258
Gene Name ISL1 transcription factor, LIM/homeodomain
Synonyms Islet 1
MMRRC Submission 040517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2940 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 116434817-116446225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116444835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 65 (T65A)
Ref Sequence ENSEMBL: ENSMUSP00000135567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036060] [ENSMUST00000176044]
AlphaFold P61372
Predicted Effect possibly damaging
Transcript: ENSMUST00000036060
AA Change: T65A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044879
Gene: ENSMUSG00000042258
AA Change: T65A

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 possibly damaging
Transcript: ENSMUST00000176044
AA Change: T65A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135567
Gene: ENSMUSG00000042258
AA Change: T65A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,878,424 (GRCm39) W405R probably damaging Het
Apc G A 18: 34,409,723 (GRCm39) R221H probably damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Bltp1 A G 3: 37,012,954 (GRCm39) D1878G probably damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cngb1 T C 8: 95,978,735 (GRCm39) I573V probably benign Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dmap1 G A 4: 117,533,202 (GRCm39) T284M possibly damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif3a T C 19: 60,762,115 (GRCm39) T487A probably benign Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fam180a A T 6: 35,290,564 (GRCm39) S140T possibly damaging Het
Fibcd1 T C 2: 31,707,276 (GRCm39) Y327C probably damaging Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Igfbp1 A G 11: 7,151,970 (GRCm39) T258A probably benign Het
Khdrbs3 T A 15: 68,921,239 (GRCm39) D185E probably damaging Het
Klc1 C T 12: 111,772,451 (GRCm39) R157C possibly damaging Het
Lamc3 A G 2: 31,830,714 (GRCm39) S1484G probably benign Het
Lman1 G T 18: 66,117,344 (GRCm39) P466Q possibly damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbea C G 3: 55,842,045 (GRCm39) E1879Q probably benign Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pigc T C 1: 161,798,239 (GRCm39) Y74H possibly damaging Het
Plek C T 11: 16,942,887 (GRCm39) probably null Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rasgrf1 C T 9: 89,873,767 (GRCm39) A692V possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Sh3rf2 G A 18: 42,244,505 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,122,757 (GRCm39) D506G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Sorbs1 T C 19: 40,362,015 (GRCm39) D123G probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Tubb6 A G 18: 67,534,994 (GRCm39) N298D probably damaging Het
Xpo7 G T 14: 70,904,577 (GRCm39) L1020I probably benign Het
Xpo7 A T 14: 70,904,576 (GRCm39) L1020Q probably damaging Het
Zswim4 A T 8: 84,950,377 (GRCm39) L611Q probably damaging 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
R4062:Isl1 UTSW 13 116,439,626 (GRCm39) missense probably benign 0.27
R4795:Isl1 UTSW 13 116,441,966 (GRCm39) missense probably benign 0.41
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'- TGTCCTTAGGGAAGTTTAAAGAGGG -3'
(R):5'- GAAGTAAACGGTTAGTCAATCATGC -3'

Sequencing Primer
(F):5'- TTTATGAAACACAGCGACACC -3'
(R):5'- GCGGCAATCAAATTCACG -3'
Posted On 2014-12-29