Incidental Mutation 'R4321:Itsn1'
ID 323848
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 041662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4321 (G1)
Quality Score 212
Status Validated
Chromosome 16
Chromosomal Location 91526198-91717479 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 91615440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056482] [ENSMUST00000064797] [ENSMUST00000095909] [ENSMUST00000113993] [ENSMUST00000113996] [ENSMUST00000113999] [ENSMUST00000114001] [ENSMUST00000114002] [ENSMUST00000135057] [ENSMUST00000159295]
AlphaFold Q9Z0R4
Predicted Effect unknown
Transcript: ENSMUST00000056482
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000056011
Gene: ENSMUSG00000022957
AA Change: R395Q

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
Predicted Effect unknown
Transcript: ENSMUST00000064797
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: R395Q

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: ENSMUST00000095909
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000093598
Gene: ENSMUSG00000022957
AA Change: R395Q

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 561 607 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113993
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000109626
Gene: ENSMUSG00000022957
AA Change: R395Q

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 1004 1064 2.46e-16 SMART
SH3 1085 1140 7.97e-25 SMART
Predicted Effect unknown
Transcript: ENSMUST00000113996
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000109629
Gene: ENSMUSG00000022957
AA Change: R395Q

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 999 1059 2.46e-16 SMART
SH3 1080 1135 7.97e-25 SMART
Predicted Effect unknown
Transcript: ENSMUST00000113999
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000109632
Gene: ENSMUSG00000022957
AA Change: R395Q

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
Predicted Effect unknown
Transcript: ENSMUST00000114001
AA Change: R358Q
SMART Domains Protein: ENSMUSP00000109634
Gene: ENSMUSG00000022957
AA Change: R358Q

DomainStartEndE-ValueType
EH 14 108 1.34e-43 SMART
EFh 57 85 2.14e-1 SMART
low complexity region 145 155 N/A INTRINSIC
EH 177 272 2.55e-49 SMART
EFh 221 249 1.77e-2 SMART
low complexity region 293 305 N/A INTRINSIC
coiled coil region 315 410 N/A INTRINSIC
coiled coil region 431 478 N/A INTRINSIC
low complexity region 489 500 N/A INTRINSIC
coiled coil region 524 624 N/A INTRINSIC
low complexity region 650 659 N/A INTRINSIC
SH3 704 761 1.05e-19 SMART
SH3 872 926 2.64e-16 SMART
SH3 961 1015 1.82e-19 SMART
SH3 1033 1093 2.46e-16 SMART
SH3 1114 1169 7.97e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151044
Predicted Effect unknown
Transcript: ENSMUST00000114002
AA Change: R395Q
SMART Domains Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: R395Q

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: ENSMUST00000135057
AA Change: R334Q
SMART Domains Protein: ENSMUSP00000117018
Gene: ENSMUSG00000022957
AA Change: R334Q

DomainStartEndE-ValueType
EH 14 108 1.34e-43 SMART
EFh 57 85 2.14e-1 SMART
low complexity region 121 131 N/A INTRINSIC
EH 153 248 2.55e-49 SMART
EFh 197 225 1.77e-2 SMART
low complexity region 269 281 N/A INTRINSIC
coiled coil region 291 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133389
Predicted Effect probably benign
Transcript: ENSMUST00000159295
SMART Domains Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933

DomainStartEndE-ValueType
Pfam:OSCP 1 89 1.1e-16 PFAM
Meta Mutation Damage Score 0.1872 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (56/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,100,887 (GRCm39) D420V probably damaging Het
Als2 A C 1: 59,206,613 (GRCm39) probably benign Het
Ankrd9 A G 12: 110,943,074 (GRCm39) L287P probably damaging Het
Aoc1l1 T A 6: 48,953,456 (GRCm39) D460E probably damaging Het
Bbof1 A T 12: 84,473,902 (GRCm39) R411* probably null Het
Camta2 A T 11: 70,569,151 (GRCm39) L598Q probably damaging Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Cep85 G A 4: 133,859,596 (GRCm39) T689I probably damaging Het
Clvs1 T C 4: 9,282,029 (GRCm39) probably benign Het
Cpped1 T C 16: 11,705,610 (GRCm39) T65A probably benign Het
Daxx T C 17: 34,130,380 (GRCm39) Y132H possibly damaging Het
Dock7 T C 4: 98,960,691 (GRCm39) E279G probably damaging Het
Dok7 A T 5: 35,237,141 (GRCm39) probably benign Het
Dthd1 A T 5: 62,976,033 (GRCm39) I236F probably damaging Het
Egf A G 3: 129,499,783 (GRCm39) C285R probably damaging Het
Epha4 T A 1: 77,483,850 (GRCm39) probably null Het
Fbxw13 A C 9: 109,010,503 (GRCm39) I378M probably benign Het
Gaa A T 11: 119,160,963 (GRCm39) N2I probably benign Het
Gad1 G A 2: 70,420,174 (GRCm39) D353N probably damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm2663 G T 6: 40,974,530 (GRCm39) Q87K probably damaging Het
Golga4 A G 9: 118,385,503 (GRCm39) E847G probably damaging Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Ibtk T C 9: 85,617,125 (GRCm39) D149G possibly damaging Het
Ice1 A T 13: 70,751,229 (GRCm39) V1619E possibly damaging Het
Itpr3 A G 17: 27,330,948 (GRCm39) E1752G probably benign Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Lama1 G A 17: 68,078,078 (GRCm39) G1171D probably benign Het
Lonp2 A G 8: 87,392,356 (GRCm39) H474R probably damaging Het
Mark1 G T 1: 184,630,871 (GRCm39) D746E possibly damaging Het
Mlxipl C T 5: 135,164,304 (GRCm39) Q167* probably null Het
Myo3a A T 2: 22,271,966 (GRCm39) N162Y probably damaging Het
Myo5a T G 9: 75,124,812 (GRCm39) V1787G probably damaging Het
Myorg C T 4: 41,498,767 (GRCm39) V288I probably benign Het
Nrxn3 A T 12: 90,166,005 (GRCm39) E227V probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy2 A G 10: 62,818,459 (GRCm39) D5G probably damaging Het
Rufy4 A T 1: 74,171,943 (GRCm39) D222V possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Slamf1 T C 1: 171,602,694 (GRCm39) probably null Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Spef2 A T 15: 9,679,429 (GRCm39) I636K possibly damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Txnl1 T C 18: 63,812,561 (GRCm39) T78A possibly damaging Het
Ulk4 T G 9: 120,903,062 (GRCm39) R1138S probably benign Het
Vamp8 A C 6: 72,362,536 (GRCm39) V88G possibly damaging Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp850 A C 7: 27,688,825 (GRCm39) F461C 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
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
R5122:Itsn1 UTSW 16 91,690,732 (GRCm39) intron 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'- AATGACTTTCCCATCGCTGG -3'
(R):5'- GTGAAGACTGAGCAACTCTGG -3'

Sequencing Primer
(F):5'- CCATCGCTGGTGTGTCC -3'
(R):5'- TGAAGACTGAGCAACTCTGGATACC -3'
Posted On 2015-06-24