Incidental Mutation 'IGL02801:Isl2'
ID360213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isl2
Ensembl Gene ENSMUSG00000032318
Gene Nameinsulin related protein 2 (islet 2)
Synonyms3110001N10Rik, islet-2, islet 2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02801
Quality Score
Status
Chromosome9
Chromosomal Location55538672-55546180 bp(+) (GRCm38)
Type of Mutationsplice site (2962 bp from exon)
DNA Base Change (assembly) A to G at 55545532 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000037408] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950] [ENSMUST00000214747]
Predicted Effect probably damaging
Transcript: ENSMUST00000034869
AA Change: E358G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: E358G

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
LIM 88 142 2.67e-15 SMART
HOX 191 253 3.41e-20 SMART
low complexity region 323 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037408
SMART Domains Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007

DomainStartEndE-ValueType
Pfam:SCAPER_N 88 185 3.4e-47 PFAM
low complexity region 323 338 N/A INTRINSIC
coiled coil region 415 466 N/A INTRINSIC
coiled coil region 535 597 N/A INTRINSIC
SCOP:d1eq1a_ 605 769 3e-6 SMART
ZnF_C2H2 791 815 1.16e1 SMART
low complexity region 866 883 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114290
SMART Domains Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
low complexity region 123 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164373
SMART Domains Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
low complexity region 123 141 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171441
Predicted Effect probably null
Transcript: ENSMUST00000175950
SMART Domains Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318

DomainStartEndE-ValueType
LIM 37 91 4.09e-11 SMART
LIM 99 152 1.53e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214747
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations of this gene result in neonatal lethality, motor neuron migration defects and impaired visceral motor neuron differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Isl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Isl2 APN 9 55544969 missense possibly damaging 0.90
IGL01123:Isl2 APN 9 55545462 missense probably damaging 1.00
IGL01773:Isl2 APN 9 55544220 missense probably damaging 1.00
R0578:Isl2 UTSW 9 55545035 missense probably damaging 0.99
R3737:Isl2 UTSW 9 55542470 missense probably benign 0.17
R4035:Isl2 UTSW 9 55542470 missense probably benign 0.17
R4750:Isl2 UTSW 9 55544312 missense probably benign 0.21
R4851:Isl2 UTSW 9 55544987 missense possibly damaging 0.64
R5107:Isl2 UTSW 9 55542286 missense probably benign 0.17
R5181:Isl2 UTSW 9 55542277 missense probably benign 0.33
R6724:Isl2 UTSW 9 55541288 missense possibly damaging 0.92
R7235:Isl2 UTSW 9 55544171 missense probably benign
R7418:Isl2 UTSW 9 55544352 missense probably benign 0.00
R7457:Isl2 UTSW 9 55544956 missense probably benign 0.03
R7632:Isl2 UTSW 9 55541156 splice site probably null
R7705:Isl2 UTSW 9 55542401 missense probably benign 0.03
R7898:Isl2 UTSW 9 55542439 missense probably benign 0.18
R8266:Isl2 UTSW 9 55544124 missense probably benign 0.00
R8409:Isl2 UTSW 9 55542500 missense possibly damaging 0.61
R8738:Isl2 UTSW 9 55545438 missense probably benign 0.00
X0067:Isl2 UTSW 9 55542271 missense probably damaging 1.00
Z1176:Isl2 UTSW 9 55542215 nonsense probably null
Posted On2015-12-18