Incidental Mutation 'IGL02512:Ints13'
ID296611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints13
Ensembl Gene ENSMUSG00000040250
Gene Nameintegrator complex subunit 13
SynonymsSpata30, 4933424B01Rik, Asun
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL02512
Quality Score
Status
Chromosome6
Chromosomal Location146549632-146577835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 146576357 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 31 (D31E)
Ref Sequence ENSEMBL: ENSMUSP00000032427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032427] [ENSMUST00000037836] [ENSMUST00000058245] [ENSMUST00000067404] [ENSMUST00000111663]
Predicted Effect probably damaging
Transcript: ENSMUST00000032427
AA Change: D31E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
AA Change: D31E

DomainStartEndE-ValueType
Pfam:DUF2151 4 692 8.2e-292 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037836
SMART Domains Protein: ENSMUSP00000037316
Gene: ENSMUSG00000040242

DomainStartEndE-ValueType
Pfam:DUF837 1 142 4e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058245
SMART Domains Protein: ENSMUSP00000107289
Gene: ENSMUSG00000040242

DomainStartEndE-ValueType
Pfam:DUF837 1 142 4e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067404
SMART Domains Protein: ENSMUSP00000098352
Gene: ENSMUSG00000040242

DomainStartEndE-ValueType
Pfam:DUF837 1 185 8.6e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111663
SMART Domains Protein: ENSMUSP00000107292
Gene: ENSMUSG00000040242

DomainStartEndE-ValueType
Pfam:DUF837 2 221 2e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131662
SMART Domains Protein: ENSMUSP00000118000
Gene: ENSMUSG00000040250

DomainStartEndE-ValueType
Pfam:DUF2151 1 394 7.2e-171 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205231
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,227,549 H199N probably benign Het
Ankrd13a T A 5: 114,786,766 M104K probably benign Het
Ankrd37 A G 8: 45,999,288 L48P probably damaging Het
Ankzf1 T A 1: 75,192,578 L43M probably damaging Het
Ano10 A C 9: 122,272,474 V77G possibly damaging Het
Arg2 G A 12: 79,147,743 V114I probably benign Het
Asah1 A C 8: 41,360,307 probably benign Het
Clpx A C 9: 65,310,251 I34L probably benign Het
Cnga2 G A X: 72,008,925 V469I probably damaging Het
D230025D16Rik G A 8: 105,234,478 probably benign Het
Dock9 A T 14: 121,619,538 probably benign Het
Eaf1 A G 14: 31,497,786 T61A possibly damaging Het
Exoc3l T A 8: 105,290,483 D624V probably damaging Het
Fancd2 A G 6: 113,570,943 D927G probably damaging Het
Fbn1 A T 2: 125,338,460 Y1801N probably damaging Het
Garnl3 A G 2: 33,031,138 Y292H probably damaging Het
Gpr174 A T X: 107,292,971 K130* probably null Het
Greb1 C T 12: 16,692,712 V1379I possibly damaging Het
Grik2 A T 10: 49,355,912 D507E probably benign Het
Gsn A T 2: 35,283,950 K24* probably null Het
Ift80 A G 3: 68,927,725 probably null Het
Inpp5j T A 11: 3,499,661 Y707F probably damaging Het
Kcnh1 T C 1: 192,505,381 F717L possibly damaging Het
Klhdc8a T C 1: 132,303,157 probably null Het
Klkb1 G A 8: 45,276,240 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Myo6 T A 9: 80,292,519 probably null Het
Nampt T A 12: 32,830,269 Y54N possibly damaging Het
Neurog2 G T 3: 127,633,855 E43* probably null Het
Obscn C T 11: 59,028,517 R6887H probably damaging Het
Olfr1124 A G 2: 87,435,058 I190M possibly damaging Het
Olfr209 T C 16: 59,361,808 N137D possibly damaging Het
Olfr772 A G 10: 129,174,250 I257T possibly damaging Het
Pdss1 A G 2: 22,912,646 I166V probably damaging Het
Ptpn21 T C 12: 98,679,392 T1096A probably benign Het
Reln A G 5: 22,040,427 Y728H probably benign Het
Sec31a T C 5: 100,407,193 D56G probably damaging Het
Shroom1 T A 11: 53,466,559 V683E probably damaging Het
Slc5a11 A G 7: 123,265,255 D358G probably damaging Het
Slfn3 T A 11: 83,213,025 S241T possibly damaging Het
Slitrk3 G A 3: 73,050,402 P346S probably benign Het
Specc1 T A 11: 62,118,389 S324T probably damaging Het
Sptlc3 T C 2: 139,547,203 Y168H probably damaging Het
St3gal6 C T 16: 58,473,459 E236K probably benign Het
Tet2 A T 3: 133,469,308 M1426K probably benign Het
Tinag A T 9: 77,031,787 probably benign Het
Tjp1 A G 7: 65,343,667 S53P probably damaging Het
Uimc1 T C 13: 55,040,618 T543A possibly damaging Het
Wdfy4 A G 14: 33,042,491 W2147R probably benign Het
Zmym1 C T 4: 127,048,672 C641Y probably damaging Het
Other mutations in Ints13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Ints13 APN 6 146565676 missense probably damaging 1.00
IGL02085:Ints13 APN 6 146549939 utr 3 prime probably benign
IGL02439:Ints13 APN 6 146554223 splice site probably benign
IGL02523:Ints13 APN 6 146557611 missense probably benign 0.09
IGL02988:Ints13 APN 6 146556148 missense possibly damaging 0.49
R0083:Ints13 UTSW 6 146550664 missense probably benign 0.06
R0085:Ints13 UTSW 6 146574787 splice site probably benign
R0184:Ints13 UTSW 6 146555044 missense probably benign 0.26
R0656:Ints13 UTSW 6 146552461 missense probably benign 0.19
R1808:Ints13 UTSW 6 146554197 missense probably damaging 1.00
R1838:Ints13 UTSW 6 146566611 missense possibly damaging 0.92
R1906:Ints13 UTSW 6 146552370 critical splice donor site probably null
R2140:Ints13 UTSW 6 146576431 missense probably damaging 1.00
R3082:Ints13 UTSW 6 146574707 missense possibly damaging 0.92
R5568:Ints13 UTSW 6 146576357 missense probably damaging 1.00
R5757:Ints13 UTSW 6 146550106 missense probably benign 0.01
R5770:Ints13 UTSW 6 146555073 missense probably damaging 0.98
R5809:Ints13 UTSW 6 146576349 missense probably benign 0.06
R6273:Ints13 UTSW 6 146565681 missense probably damaging 1.00
R6882:Ints13 UTSW 6 146563441 missense probably null 0.18
R6908:Ints13 UTSW 6 146555033 missense probably damaging 0.99
R7089:Ints13 UTSW 6 146574718 missense probably damaging 1.00
R7425:Ints13 UTSW 6 146574700 critical splice donor site probably null
R7660:Ints13 UTSW 6 146557338 missense probably benign 0.24
RF011:Ints13 UTSW 6 146556240 missense probably damaging 0.99
Posted On2015-04-16