Incidental Mutation 'R5122:Itsn1'
ID 393372
Institutional Source Beutler Lab
Gene Symbol Itsn1
Ensembl Gene ENSMUSG00000022957
Gene Name intersectin 1 (SH3 domain protein 1A)
Synonyms Eh domain, SH3 domain regulator of endocytosis 1, Sh3p17, Ese1, Intersectin-L, EHSH1
MMRRC Submission 042710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5122 (G1)
Quality Score 181
Status Not validated
Chromosome 16
Chromosomal Location 91526198-91717479 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 91690732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064797] [ENSMUST00000114002] [ENSMUST00000159295]
AlphaFold Q9Z0R4
Predicted Effect unknown
Transcript: ENSMUST00000064797
AA Change: I1313V
SMART Domains Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: I1313V

DomainStartEndE-ValueType
EH 14 108 1.34e-43 SMART
EFh 57 85 2.14e-1 SMART
low complexity region 138 165 N/A INTRINSIC
low complexity region 182 192 N/A INTRINSIC
EH 214 309 2.55e-49 SMART
EFh 258 286 1.77e-2 SMART
low complexity region 330 342 N/A INTRINSIC
coiled coil region 352 447 N/A INTRINSIC
coiled coil region 468 515 N/A INTRINSIC
low complexity region 526 537 N/A INTRINSIC
coiled coil region 561 661 N/A INTRINSIC
low complexity region 687 696 N/A INTRINSIC
SH3 741 803 1.62e-16 SMART
SH3 914 968 2.64e-16 SMART
SH3 1003 1057 1.82e-19 SMART
SH3 1075 1135 2.46e-16 SMART
SH3 1156 1211 7.97e-25 SMART
RhoGEF 1239 1420 1e-63 SMART
PH 1461 1571 6.07e-13 SMART
C2 1595 1692 1.58e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000114002
AA Change: I1308V
SMART Domains Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: I1308V

DomainStartEndE-ValueType
EH 14 108 1.34e-43 SMART
EFh 57 85 2.14e-1 SMART
low complexity region 138 165 N/A INTRINSIC
low complexity region 182 192 N/A INTRINSIC
EH 214 309 2.55e-49 SMART
EFh 258 286 1.77e-2 SMART
low complexity region 330 342 N/A INTRINSIC
coiled coil region 352 447 N/A INTRINSIC
coiled coil region 468 515 N/A INTRINSIC
low complexity region 526 537 N/A INTRINSIC
coiled coil region 561 661 N/A INTRINSIC
low complexity region 687 696 N/A INTRINSIC
SH3 741 798 1.05e-19 SMART
SH3 909 963 2.64e-16 SMART
SH3 998 1052 1.82e-19 SMART
SH3 1070 1130 2.46e-16 SMART
SH3 1151 1206 7.97e-25 SMART
RhoGEF 1234 1415 1e-63 SMART
PH 1456 1566 6.07e-13 SMART
C2 1590 1687 1.58e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125052
AA Change: I79V
SMART Domains Protein: ENSMUSP00000115985
Gene: ENSMUSG00000022957
AA Change: I79V

DomainStartEndE-ValueType
RhoGEF 6 185 1.19e-38 SMART
PH 172 282 6.07e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141073
Predicted Effect probably benign
Transcript: ENSMUST00000159295
SMART Domains Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933

DomainStartEndE-ValueType
Pfam:OSCP 1 89 1.1e-16 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a gene trapped allele exhibit embryonic lethal. Mice homozygous for a null allele exhibit some postnatal lethality and impaired vesicle recycling in surviving mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,750,409 (GRCm39) S1727P probably damaging Het
Actr8 A T 14: 29,704,672 (GRCm39) K57N possibly damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Bltp1 A G 3: 37,088,906 (GRCm39) probably null Het
Bmp2k A G 5: 97,234,874 (GRCm39) probably benign Het
Cd274 A G 19: 29,357,965 (GRCm39) H219R possibly damaging Het
Cdc16 A T 8: 13,814,570 (GRCm39) Y118F probably damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Chchd3 T C 6: 32,945,240 (GRCm39) R89G probably benign Het
Clstn2 C T 9: 97,343,474 (GRCm39) V658M probably damaging Het
Cpt1b A G 15: 89,308,226 (GRCm39) S160P probably benign Het
Crym T C 7: 119,794,718 (GRCm39) N167S probably benign Het
Dhx16 T A 17: 36,194,202 (GRCm39) Y438N probably damaging Het
Dnah12 A G 14: 26,439,155 (GRCm39) R536G probably benign Het
Dnajc11 A G 4: 152,061,454 (GRCm39) D382G possibly damaging Het
Dync1h1 G A 12: 110,596,114 (GRCm39) G1547D probably damaging Het
Eml3 T A 19: 8,915,060 (GRCm39) probably null Het
Ep400 G A 5: 110,816,036 (GRCm39) P2799S probably damaging Het
Ephb6 T C 6: 41,590,338 (GRCm39) V30A probably benign Het
Fam53b T A 7: 132,380,991 (GRCm39) probably benign Het
Fcrl1 A G 3: 87,293,081 (GRCm39) K246R probably benign Het
Focad G A 4: 88,325,602 (GRCm39) probably null Het
Glipr1l2 T C 10: 111,942,961 (GRCm39) I272T possibly damaging Het
Gm8104 A G 14: 42,966,550 (GRCm39) I101V probably benign Het
Grm5 A G 7: 87,724,028 (GRCm39) I773V probably damaging Het
Hyal1 A T 9: 107,455,268 (GRCm39) T193S probably benign Het
Igkv10-94 C A 6: 68,681,655 (GRCm39) G62* probably null Het
Kank4 A G 4: 98,644,804 (GRCm39) S983P probably damaging Het
Krtap16-1 C A 11: 99,876,523 (GRCm39) V294F probably damaging Het
Lama3 T G 18: 12,672,823 (GRCm39) V866G possibly damaging Het
Lrba C T 3: 86,256,461 (GRCm39) R1268* probably null Het
Lrriq1 C T 10: 103,023,314 (GRCm39) V984I probably damaging Het
Macf1 A C 4: 123,346,085 (GRCm39) V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 (GRCm39) E419D probably damaging Het
Nedd4l A G 18: 65,324,518 (GRCm39) Y473C probably damaging Het
Nod2 G T 8: 89,390,748 (GRCm39) D330Y probably damaging Het
Nt5c2 C T 19: 46,878,360 (GRCm39) C458Y probably damaging Het
Numa1 T C 7: 101,662,976 (GRCm39) I681T probably damaging Het
Or10a5 C A 7: 106,636,055 (GRCm39) S231* probably null Het
Papolg C T 11: 23,817,501 (GRCm39) probably null Het
Parn A G 16: 13,472,311 (GRCm39) probably null Het
Pgap2 T C 7: 101,880,598 (GRCm39) F42S probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pofut2 G C 10: 77,104,399 (GRCm39) R392P probably damaging Het
Prpf18 T C 2: 4,648,520 (GRCm39) D102G probably damaging Het
Rreb1 T A 13: 38,114,744 (GRCm39) I701N probably benign Het
Slc26a5 T C 5: 22,052,194 (GRCm39) K45R probably damaging Het
Slc8a3 A G 12: 81,361,032 (GRCm39) probably null Het
Slf1 T A 13: 77,198,106 (GRCm39) M723L probably benign Het
Spata31e5 A G 1: 28,819,141 (GRCm39) S47P probably benign Het
Sra1 T C 18: 36,800,647 (GRCm39) T187A probably benign Het
Stk17b A C 1: 53,815,717 (GRCm39) N27K probably damaging Het
Tbc1d9 T A 8: 83,963,172 (GRCm39) Y295N probably damaging Het
Tubgcp6 A G 15: 89,000,306 (GRCm39) V353A probably damaging Het
Unc80 A T 1: 66,718,749 (GRCm39) T2991S possibly damaging Het
Urb1 G A 16: 90,548,983 (GRCm39) R2242* probably null Het
Vasp T C 7: 18,998,697 (GRCm39) N20S probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in Itsn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Itsn1 APN 16 91,603,089 (GRCm39) unclassified probably benign
IGL01799:Itsn1 APN 16 91,645,770 (GRCm39) missense probably damaging 1.00
IGL02328:Itsn1 APN 16 91,612,295 (GRCm39) missense probably damaging 1.00
IGL02333:Itsn1 APN 16 91,617,564 (GRCm39) intron probably benign
IGL02503:Itsn1 APN 16 91,686,092 (GRCm39) missense possibly damaging 0.62
IGL02628:Itsn1 APN 16 91,696,511 (GRCm39) missense possibly damaging 0.79
IGL02666:Itsn1 APN 16 91,617,606 (GRCm39) intron probably benign
IGL03007:Itsn1 APN 16 91,581,050 (GRCm39) splice site probably benign
IGL03223:Itsn1 APN 16 91,702,194 (GRCm39) missense probably benign 0.00
raphael UTSW 16 91,617,684 (GRCm39) intron probably benign
Sector UTSW 16 91,705,375 (GRCm39) critical splice donor site probably null
Weevil UTSW 16 91,615,440 (GRCm39) intron probably benign
R0234:Itsn1 UTSW 16 91,625,168 (GRCm39) nonsense probably null
R0234:Itsn1 UTSW 16 91,625,168 (GRCm39) nonsense probably null
R0255:Itsn1 UTSW 16 91,602,978 (GRCm39) unclassified probably benign
R0432:Itsn1 UTSW 16 91,612,408 (GRCm39) missense probably damaging 1.00
R0455:Itsn1 UTSW 16 91,665,036 (GRCm39) intron probably benign
R0471:Itsn1 UTSW 16 91,696,477 (GRCm39) missense probably damaging 1.00
R0558:Itsn1 UTSW 16 91,696,511 (GRCm39) missense possibly damaging 0.79
R0563:Itsn1 UTSW 16 91,617,684 (GRCm39) intron probably benign
R1657:Itsn1 UTSW 16 91,706,111 (GRCm39) missense probably damaging 1.00
R1671:Itsn1 UTSW 16 91,609,038 (GRCm39) missense probably damaging 1.00
R1742:Itsn1 UTSW 16 91,613,847 (GRCm39) critical splice donor site probably null
R1859:Itsn1 UTSW 16 91,686,042 (GRCm39) intron probably benign
R1898:Itsn1 UTSW 16 91,696,468 (GRCm39) missense probably damaging 1.00
R2016:Itsn1 UTSW 16 91,702,389 (GRCm39) critical splice donor site probably null
R2221:Itsn1 UTSW 16 91,650,656 (GRCm39) intron probably benign
R2244:Itsn1 UTSW 16 91,650,659 (GRCm39) missense probably null
R3160:Itsn1 UTSW 16 91,649,932 (GRCm39) nonsense probably null
R3162:Itsn1 UTSW 16 91,649,932 (GRCm39) nonsense probably null
R3814:Itsn1 UTSW 16 91,649,809 (GRCm39) missense possibly damaging 0.96
R4162:Itsn1 UTSW 16 91,649,790 (GRCm39) missense probably benign 0.00
R4254:Itsn1 UTSW 16 91,615,440 (GRCm39) intron probably benign
R4319:Itsn1 UTSW 16 91,615,440 (GRCm39) intron probably benign
R4321:Itsn1 UTSW 16 91,615,440 (GRCm39) intron probably benign
R4323:Itsn1 UTSW 16 91,615,440 (GRCm39) intron probably benign
R4326:Itsn1 UTSW 16 91,650,743 (GRCm39) intron probably benign
R4515:Itsn1 UTSW 16 91,696,537 (GRCm39) missense probably damaging 0.99
R4584:Itsn1 UTSW 16 91,617,471 (GRCm39) intron probably benign
R4600:Itsn1 UTSW 16 91,696,475 (GRCm39) missense probably damaging 1.00
R4649:Itsn1 UTSW 16 91,638,476 (GRCm39) missense probably damaging 1.00
R4834:Itsn1 UTSW 16 91,703,677 (GRCm39) nonsense probably null
R4868:Itsn1 UTSW 16 91,582,205 (GRCm39) missense probably damaging 0.98
R5036:Itsn1 UTSW 16 91,579,123 (GRCm39) splice site probably benign
R5161:Itsn1 UTSW 16 91,705,726 (GRCm39) missense possibly damaging 0.95
R5437:Itsn1 UTSW 16 91,615,479 (GRCm39) intron probably benign
R5538:Itsn1 UTSW 16 91,580,990 (GRCm39) missense probably damaging 1.00
R5683:Itsn1 UTSW 16 91,702,268 (GRCm39) missense probably benign 0.00
R5697:Itsn1 UTSW 16 91,598,477 (GRCm39) missense possibly damaging 0.56
R5749:Itsn1 UTSW 16 91,703,743 (GRCm39) missense probably damaging 0.99
R6083:Itsn1 UTSW 16 91,649,899 (GRCm39) missense probably benign 0.01
R6148:Itsn1 UTSW 16 91,613,740 (GRCm39) missense probably damaging 1.00
R6291:Itsn1 UTSW 16 91,664,984 (GRCm39) intron probably benign
R6524:Itsn1 UTSW 16 91,708,883 (GRCm39) missense probably damaging 0.96
R7175:Itsn1 UTSW 16 91,664,938 (GRCm39) missense unknown
R7261:Itsn1 UTSW 16 91,702,194 (GRCm39) missense probably benign 0.00
R7320:Itsn1 UTSW 16 91,636,587 (GRCm39) missense unknown
R7366:Itsn1 UTSW 16 91,705,338 (GRCm39) missense unknown
R7462:Itsn1 UTSW 16 91,650,073 (GRCm39) missense possibly damaging 0.53
R7665:Itsn1 UTSW 16 91,638,491 (GRCm39) missense unknown
R7720:Itsn1 UTSW 16 91,664,971 (GRCm39) missense unknown
R7856:Itsn1 UTSW 16 91,705,375 (GRCm39) critical splice donor site probably null
R7864:Itsn1 UTSW 16 91,598,454 (GRCm39) missense possibly damaging 0.47
R7896:Itsn1 UTSW 16 91,615,446 (GRCm39) missense unknown
R7897:Itsn1 UTSW 16 91,615,446 (GRCm39) missense unknown
R7980:Itsn1 UTSW 16 91,702,182 (GRCm39) missense unknown
R7998:Itsn1 UTSW 16 91,647,824 (GRCm39) missense unknown
R8075:Itsn1 UTSW 16 91,686,097 (GRCm39) missense unknown
R8144:Itsn1 UTSW 16 91,708,893 (GRCm39) missense unknown
R8160:Itsn1 UTSW 16 91,615,446 (GRCm39) missense unknown
R8161:Itsn1 UTSW 16 91,615,446 (GRCm39) missense unknown
R8176:Itsn1 UTSW 16 91,645,597 (GRCm39) splice site probably null
R8215:Itsn1 UTSW 16 91,608,996 (GRCm39) missense probably damaging 0.99
R8385:Itsn1 UTSW 16 91,690,699 (GRCm39) missense unknown
R8725:Itsn1 UTSW 16 91,636,721 (GRCm39) missense unknown
R9012:Itsn1 UTSW 16 91,645,849 (GRCm39) missense unknown
R9039:Itsn1 UTSW 16 91,703,658 (GRCm39) missense unknown
R9092:Itsn1 UTSW 16 91,609,002 (GRCm39) missense possibly damaging 0.86
R9134:Itsn1 UTSW 16 91,666,514 (GRCm39) missense unknown
R9401:Itsn1 UTSW 16 91,612,408 (GRCm39) missense probably damaging 1.00
R9449:Itsn1 UTSW 16 91,625,264 (GRCm39) makesense probably null
R9568:Itsn1 UTSW 16 91,649,782 (GRCm39) missense probably benign
R9616:Itsn1 UTSW 16 91,650,055 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCCCAAATAGATGCTCTAGCG -3'
(R):5'- TAGTGGAAAGATGCCTGTGGAC -3'

Sequencing Primer
(F):5'- AAATAGATGCTCTAGCGGCTCTC -3'
(R):5'- TGGACTTTTGATGAGCCCC -3'
Posted On 2016-06-15