Incidental Mutation 'IGL03365:Synj2'
ID 420063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Synj2
Ensembl Gene ENSMUSG00000023805
Gene Name synaptojanin 2
Synonyms SJ2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL03365
Quality Score
Status
Chromosome 17
Chromosomal Location 5991555-6094565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6069679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 602 (T602A)
Ref Sequence ENSEMBL: ENSMUSP00000111456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000115784] [ENSMUST00000115785] [ENSMUST00000115786] [ENSMUST00000115787] [ENSMUST00000115788] [ENSMUST00000142409] [ENSMUST00000115790] [ENSMUST00000154114] [ENSMUST00000115791] [ENSMUST00000146009] [ENSMUST00000115789] [ENSMUST00000134767]
AlphaFold Q9D2G5
Predicted Effect possibly damaging
Transcript: ENSMUST00000061091
AA Change: T602A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805
AA Change: T602A

DomainStartEndE-ValueType
Pfam:Syja_N 1 263 2.5e-72 PFAM
Blast:IPPc 394 423 3e-6 BLAST
IPPc 443 785 3.72e-128 SMART
DUF1866 778 923 1.04e-73 SMART
low complexity region 926 940 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 1012 1027 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080283
AA Change: T687A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: T687A

DomainStartEndE-ValueType
Pfam:Syja_N 60 348 5.5e-78 PFAM
Blast:IPPc 479 508 3e-6 BLAST
IPPc 528 870 3.72e-128 SMART
DUF1866 863 1008 1.04e-73 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1050 1061 N/A INTRINSIC
low complexity region 1167 1179 N/A INTRINSIC
low complexity region 1217 1234 N/A INTRINSIC
low complexity region 1263 1277 N/A INTRINSIC
low complexity region 1293 1306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115784
SMART Domains Protein: ENSMUSP00000111450
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
PDB:3LWT|X 9 171 3e-12 PDB
Blast:IPPc 163 192 2e-6 BLAST
IPPc 212 554 3.72e-128 SMART
DUF1866 547 692 1.04e-73 SMART
low complexity region 695 709 N/A INTRINSIC
low complexity region 734 745 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115785
AA Change: T371A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111451
Gene: ENSMUSG00000023805
AA Change: T371A

DomainStartEndE-ValueType
PDB:3LWT|X 9 171 4e-12 PDB
Blast:IPPc 163 192 2e-6 BLAST
IPPc 212 554 3.72e-128 SMART
DUF1866 547 692 1.04e-73 SMART
low complexity region 695 709 N/A INTRINSIC
low complexity region 734 745 N/A INTRINSIC
low complexity region 851 863 N/A INTRINSIC
low complexity region 901 918 N/A INTRINSIC
low complexity region 947 961 N/A INTRINSIC
low complexity region 977 990 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115786
AA Change: T447A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111452
Gene: ENSMUSG00000023805
AA Change: T447A

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 5.3e-29 PFAM
Blast:IPPc 239 268 1e-6 BLAST
IPPc 288 525 6e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115787
SMART Domains Protein: ENSMUSP00000111453
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 5.7e-28 PFAM
Blast:IPPc 239 268 2e-6 BLAST
IPPc 288 630 3.72e-128 SMART
DUF1866 623 768 1.04e-73 SMART
low complexity region 771 785 N/A INTRINSIC
low complexity region 810 821 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
low complexity region 977 994 N/A INTRINSIC
low complexity region 1023 1037 N/A INTRINSIC
low complexity region 1053 1066 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115788
SMART Domains Protein: ENSMUSP00000111454
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 4.8e-28 PFAM
Blast:IPPc 239 268 2e-6 BLAST
IPPc 288 630 3.72e-128 SMART
DUF1866 623 768 1.04e-73 SMART
low complexity region 771 785 N/A INTRINSIC
low complexity region 810 821 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000142409
AA Change: T447A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120006
Gene: ENSMUSG00000023805
AA Change: T447A

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 2.5e-28 PFAM
Blast:IPPc 239 268 2e-6 BLAST
IPPc 288 630 3.72e-128 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115790
AA Change: T602A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: T602A

DomainStartEndE-ValueType
Pfam:Syja_N 1 263 3e-72 PFAM
Blast:IPPc 394 423 3e-6 BLAST
IPPc 443 785 3.72e-128 SMART
DUF1866 778 923 1.04e-73 SMART
low complexity region 926 940 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 1012 1027 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
low complexity region 1177 1194 N/A INTRINSIC
low complexity region 1223 1237 N/A INTRINSIC
low complexity region 1253 1266 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154114
AA Change: T165A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122316
Gene: ENSMUSG00000023805
AA Change: T165A

DomainStartEndE-ValueType
IPPc 6 348 3.72e-128 SMART
DUF1866 341 486 1.04e-73 SMART
low complexity region 489 503 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 645 657 N/A INTRINSIC
low complexity region 678 694 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115791
AA Change: T687A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: T687A

DomainStartEndE-ValueType
Pfam:Syja_N 61 343 8.5e-67 PFAM
Blast:IPPc 479 508 3e-6 BLAST
IPPc 528 870 3.72e-128 SMART
DUF1866 863 1008 1.04e-73 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1050 1061 N/A INTRINSIC
low complexity region 1097 1112 N/A INTRINSIC
low complexity region 1212 1224 N/A INTRINSIC
low complexity region 1262 1279 N/A INTRINSIC
low complexity region 1308 1322 N/A INTRINSIC
low complexity region 1338 1351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146009
AA Change: T687A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122381
Gene: ENSMUSG00000023805
AA Change: T687A

DomainStartEndE-ValueType
Pfam:Syja_N 60 348 3.6e-78 PFAM
Blast:IPPc 479 508 3e-6 BLAST
IPPc 528 870 3.72e-128 SMART
DUF1866 863 1008 1.04e-73 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1050 1061 N/A INTRINSIC
low complexity region 1097 1112 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115789
SMART Domains Protein: ENSMUSP00000111455
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 187 2.3e-60 PFAM
Blast:IPPc 318 347 2e-6 BLAST
IPPc 367 709 3.72e-128 SMART
DUF1866 702 847 1.04e-73 SMART
low complexity region 850 864 N/A INTRINSIC
low complexity region 889 900 N/A INTRINSIC
low complexity region 1006 1018 N/A INTRINSIC
low complexity region 1056 1073 N/A INTRINSIC
low complexity region 1102 1116 N/A INTRINSIC
low complexity region 1132 1145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232567
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, other(1) Gene trapped(4)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Adipor1 A G 1: 134,359,380 (GRCm39) D371G possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Ecsit A C 9: 21,987,822 (GRCm39) H72Q probably damaging Het
Eif1b T A 9: 120,323,186 (GRCm39) D15E probably benign Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Lrp12 A T 15: 39,735,917 (GRCm39) S672T probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Parp12 G A 6: 39,079,581 (GRCm39) R310W probably damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Ptprz1 T A 6: 23,030,581 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L possibly damaging Het
Other mutations in Synj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Synj2 APN 17 6,088,201 (GRCm39) missense possibly damaging 0.48
IGL01399:Synj2 APN 17 6,060,046 (GRCm39) missense probably damaging 1.00
IGL01793:Synj2 APN 17 6,088,321 (GRCm39) missense probably benign 0.01
IGL01793:Synj2 APN 17 6,077,500 (GRCm39) nonsense probably null
IGL02096:Synj2 APN 17 6,040,628 (GRCm39) missense probably damaging 1.00
IGL02115:Synj2 APN 17 6,067,865 (GRCm39) missense probably damaging 1.00
IGL02222:Synj2 APN 17 6,087,755 (GRCm39) missense probably benign 0.04
IGL02478:Synj2 APN 17 6,088,199 (GRCm39) missense probably benign 0.00
IGL02634:Synj2 APN 17 6,080,035 (GRCm39) missense probably damaging 1.00
IGL02652:Synj2 APN 17 6,067,868 (GRCm39) missense probably damaging 1.00
IGL02681:Synj2 APN 17 6,040,611 (GRCm39) missense probably damaging 1.00
IGL02719:Synj2 APN 17 6,047,192 (GRCm39) missense probably benign 0.02
IGL03253:Synj2 APN 17 6,053,434 (GRCm39) splice site probably null
I2288:Synj2 UTSW 17 6,072,542 (GRCm39) splice site probably benign
I2289:Synj2 UTSW 17 6,072,542 (GRCm39) splice site probably benign
R0389:Synj2 UTSW 17 6,080,058 (GRCm39) missense probably benign 0.35
R0433:Synj2 UTSW 17 6,084,123 (GRCm39) missense probably damaging 1.00
R0530:Synj2 UTSW 17 6,058,380 (GRCm39) missense possibly damaging 0.88
R0539:Synj2 UTSW 17 6,047,163 (GRCm39) start codon destroyed probably null 0.63
R0556:Synj2 UTSW 17 6,088,230 (GRCm39) nonsense probably null
R1263:Synj2 UTSW 17 6,069,634 (GRCm39) missense probably damaging 0.99
R1443:Synj2 UTSW 17 6,073,940 (GRCm39) missense probably damaging 0.99
R1450:Synj2 UTSW 17 6,077,599 (GRCm39) splice site probably benign
R1532:Synj2 UTSW 17 6,084,194 (GRCm39) missense probably benign 0.00
R1542:Synj2 UTSW 17 6,075,292 (GRCm39) missense probably benign 0.01
R1809:Synj2 UTSW 17 6,076,826 (GRCm39) missense possibly damaging 0.95
R1875:Synj2 UTSW 17 6,078,825 (GRCm39) missense possibly damaging 0.69
R1897:Synj2 UTSW 17 6,072,412 (GRCm39) nonsense probably null
R1928:Synj2 UTSW 17 6,040,542 (GRCm39) missense probably damaging 0.99
R2008:Synj2 UTSW 17 6,047,221 (GRCm39) missense probably damaging 1.00
R2060:Synj2 UTSW 17 6,087,755 (GRCm39) missense probably benign 0.04
R2109:Synj2 UTSW 17 6,063,966 (GRCm39) missense probably benign 0.00
R2332:Synj2 UTSW 17 6,074,069 (GRCm39) missense probably damaging 0.99
R2413:Synj2 UTSW 17 6,078,849 (GRCm39) missense probably damaging 1.00
R3684:Synj2 UTSW 17 6,078,718 (GRCm39) missense probably damaging 0.97
R4111:Synj2 UTSW 17 6,058,240 (GRCm39) missense probably benign 0.02
R4113:Synj2 UTSW 17 6,058,240 (GRCm39) missense probably benign 0.02
R4654:Synj2 UTSW 17 6,063,813 (GRCm39) missense probably damaging 1.00
R4797:Synj2 UTSW 17 6,084,163 (GRCm39) missense probably damaging 1.00
R4812:Synj2 UTSW 17 6,060,939 (GRCm39) missense probably damaging 1.00
R4873:Synj2 UTSW 17 6,038,343 (GRCm39) intron probably benign
R4875:Synj2 UTSW 17 6,038,343 (GRCm39) intron probably benign
R5110:Synj2 UTSW 17 6,087,990 (GRCm39) missense probably benign 0.06
R5205:Synj2 UTSW 17 5,991,793 (GRCm39) missense probably damaging 1.00
R5504:Synj2 UTSW 17 6,086,750 (GRCm39) missense possibly damaging 0.85
R5593:Synj2 UTSW 17 6,088,390 (GRCm39) makesense probably null
R5690:Synj2 UTSW 17 6,085,802 (GRCm39) missense probably benign 0.00
R5870:Synj2 UTSW 17 6,088,128 (GRCm39) missense probably benign 0.00
R6084:Synj2 UTSW 17 6,088,373 (GRCm39) missense probably damaging 1.00
R6084:Synj2 UTSW 17 6,067,889 (GRCm39) missense probably damaging 0.98
R6158:Synj2 UTSW 17 6,036,487 (GRCm39) missense probably benign 0.00
R6159:Synj2 UTSW 17 6,036,327 (GRCm39) missense probably damaging 1.00
R6160:Synj2 UTSW 17 6,058,336 (GRCm39) missense possibly damaging 0.92
R6278:Synj2 UTSW 17 6,026,149 (GRCm39) missense probably damaging 1.00
R6406:Synj2 UTSW 17 6,069,846 (GRCm39) intron probably benign
R6531:Synj2 UTSW 17 6,084,114 (GRCm39) missense probably damaging 1.00
R6729:Synj2 UTSW 17 6,036,289 (GRCm39) start codon destroyed probably null 1.00
R6774:Synj2 UTSW 17 6,088,290 (GRCm39) missense possibly damaging 0.87
R6792:Synj2 UTSW 17 6,040,565 (GRCm39) missense probably benign 0.01
R6844:Synj2 UTSW 17 6,026,081 (GRCm39) missense probably damaging 0.96
R6865:Synj2 UTSW 17 6,067,844 (GRCm39) nonsense probably null
R7178:Synj2 UTSW 17 6,076,754 (GRCm39) missense possibly damaging 0.95
R7286:Synj2 UTSW 17 6,088,220 (GRCm39) missense possibly damaging 0.79
R7403:Synj2 UTSW 17 6,088,005 (GRCm39) missense possibly damaging 0.76
R7451:Synj2 UTSW 17 6,080,066 (GRCm39) missense possibly damaging 0.68
R7501:Synj2 UTSW 17 6,040,514 (GRCm39) missense possibly damaging 0.79
R7730:Synj2 UTSW 17 6,066,562 (GRCm39) missense probably benign 0.33
R7799:Synj2 UTSW 17 6,088,098 (GRCm39) missense probably benign 0.10
R7804:Synj2 UTSW 17 6,069,809 (GRCm39) missense unknown
R7841:Synj2 UTSW 17 6,094,419 (GRCm39) missense unknown
R8347:Synj2 UTSW 17 6,060,060 (GRCm39) missense probably damaging 1.00
R8358:Synj2 UTSW 17 6,074,080 (GRCm39) nonsense probably null
R8391:Synj2 UTSW 17 5,991,796 (GRCm39) missense probably damaging 0.99
R8725:Synj2 UTSW 17 6,088,015 (GRCm39) missense possibly damaging 0.48
R8787:Synj2 UTSW 17 6,036,514 (GRCm39) missense possibly damaging 0.57
R8877:Synj2 UTSW 17 6,087,941 (GRCm39) missense probably damaging 1.00
R9091:Synj2 UTSW 17 6,067,875 (GRCm39) missense possibly damaging 0.88
R9121:Synj2 UTSW 17 6,040,599 (GRCm39) missense probably damaging 1.00
R9147:Synj2 UTSW 17 6,084,172 (GRCm39) missense probably damaging 1.00
R9148:Synj2 UTSW 17 6,084,172 (GRCm39) missense probably damaging 1.00
R9270:Synj2 UTSW 17 6,067,875 (GRCm39) missense possibly damaging 0.88
R9489:Synj2 UTSW 17 6,063,794 (GRCm39) missense probably benign 0.00
R9605:Synj2 UTSW 17 6,063,794 (GRCm39) missense probably benign 0.00
R9720:Synj2 UTSW 17 6,040,584 (GRCm39) missense probably benign
R9773:Synj2 UTSW 17 6,094,232 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02