Incidental Mutation 'R6766:Insm1'
Institutional Source Beutler Lab
Gene Symbol Insm1
Ensembl Gene ENSMUSG00000068154
Gene Nameinsulinoma-associated 1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6766 (G1)
Quality Score184.009
Status Not validated
Chromosomal Location146221921-146225020 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 146223426 bp
Amino Acid Change Tyrosine to Stop codon at position 387 (Y387*)
Ref Sequence ENSEMBL: ENSMUSP00000092048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089257]
Predicted Effect probably null
Transcript: ENSMUST00000089257
AA Change: Y387*
SMART Domains Protein: ENSMUSP00000092048
Gene: ENSMUSG00000068154
AA Change: Y387*

low complexity region 41 88 N/A INTRINSIC
low complexity region 137 164 N/A INTRINSIC
low complexity region 190 230 N/A INTRINSIC
ZnF_C2H2 272 292 1.49e2 SMART
ZnF_C2H2 300 322 3.78e-1 SMART
low complexity region 324 348 N/A INTRINSIC
low complexity region 358 371 N/A INTRINSIC
ZnF_C2H2 373 395 4.4e-2 SMART
ZnF_C2H2 452 475 2.09e-3 SMART
ZnF_C2H2 480 503 1.18e-2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display perinatal and neonatal lethality, respiratory failure, and impaired pancreatic and intestinal endocrine cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 G A 8: 24,872,630 S17L probably damaging Het
Akt3 A T 1: 177,050,190 Y337* probably null Het
Ankrd34c A G 9: 89,729,328 V320A probably benign Het
Aox2 C A 1: 58,349,068 L1112I possibly damaging Het
Arap2 A C 5: 62,677,100 probably null Het
Atm A T 9: 53,490,282 I1429N probably damaging Het
Ccdc68 A G 18: 69,966,790 N290D probably damaging Het
Chst1 T C 2: 92,613,197 W5R probably damaging Het
Clip1 G T 5: 123,614,764 probably benign Het
Crebbp T C 16: 4,117,500 T842A probably damaging Het
Cyp2b13 T C 7: 26,081,811 probably null Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Dock1 T A 7: 134,756,793 probably null Het
Dst A G 1: 34,294,483 I4800V probably damaging Het
Efcab7 CAAGTAAAGTAA CAAGTAA 4: 99,877,959 probably null Het
Epb41l2 C T 10: 25,473,092 Q382* probably null Het
Fam83e A G 7: 45,726,646 D261G probably damaging Het
Ifnk T G 4: 35,152,134 S21A possibly damaging Het
Ift122 A G 6: 115,926,243 H1157R probably benign Het
Ighv1-67 T C 12: 115,604,034 K67R possibly damaging Het
Inpp4a C A 1: 37,372,341 A97D probably damaging Het
Irgm1 T C 11: 48,866,101 I294M possibly damaging Het
Isoc2b C T 7: 4,851,062 V104M probably damaging Het
Kif2c A C 4: 117,167,083 S311R probably benign Het
Morn3 G A 5: 123,041,207 A60V probably damaging Het
Oit3 T C 10: 59,438,712 N89D probably damaging Het
Olfr1174-ps T A 2: 88,311,751 Q15L noncoding transcript Het
Olfr1221 G T 2: 89,112,296 T72N possibly damaging Het
Olfr1262 T C 2: 90,002,532 V42A probably benign Het
Olfr293 A T 7: 86,664,085 N141I probably damaging Het
Olfr912 A C 9: 38,581,773 R165S probably damaging Het
Pan2 C A 10: 128,314,512 N708K possibly damaging Het
Parp1 T A 1: 180,598,362 V886E probably damaging Het
Pcdha8 C A 18: 36,994,700 A745E probably benign Het
Pcyox1 C T 6: 86,394,408 probably null Het
Prl2c2 A T 13: 13,002,128 probably null Het
Samd1 T C 8: 83,999,732 S473P possibly damaging Het
Slc26a1 A T 5: 108,671,907 D475E probably damaging Het
Slco1c1 T C 6: 141,547,809 V239A possibly damaging Het
Smo T A 6: 29,736,045 L12Q unknown Homo
Srpk1 C T 17: 28,602,753 R229Q possibly damaging Het
Syn2 T A 6: 115,239,401 F191L probably damaging Het
Syngr2 T C 11: 117,813,435 V182A probably benign Het
Tarbp1 G A 8: 126,447,400 A889V probably benign Het
Tbc1d2b T C 9: 90,226,209 T430A probably benign Het
Tmem217 T A 17: 29,526,510 Y82F probably damaging Het
Ttll9 T A 2: 152,999,300 Y272* probably null Het
Uts2r A G 11: 121,161,207 Y299C probably damaging Het
Vsig8 T A 1: 172,560,576 M37K probably benign Het
Vwf G T 6: 125,639,376 D1218Y unknown Het
Wdr11 T G 7: 129,624,312 M727R probably benign Het
Wwc2 A G 8: 47,900,791 Y103H possibly damaging Het
Yod1 T A 1: 130,719,271 L295* probably null Het
Zfp113 G T 5: 138,145,346 S214* probably null Het
Zfp438 T A 18: 5,213,780 M393L probably benign Het
Zfp946 G A 17: 22,455,771 C502Y probably benign Het
Other mutations in Insm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4276:Insm1 UTSW 2 146222968 missense probably benign 0.02
R4737:Insm1 UTSW 2 146222902 missense probably benign
R7237:Insm1 UTSW 2 146222528 missense possibly damaging 0.79
R7408:Insm1 UTSW 2 146222791 missense probably benign 0.01
R7486:Insm1 UTSW 2 146223818 missense probably damaging 1.00
R7634:Insm1 UTSW 2 146223107 missense probably damaging 1.00
Z1176:Insm1 UTSW 2 146223556 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-08-29