Incidental Mutation 'IGL00546:Ints14'
ID6166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints14
Ensembl Gene ENSMUSG00000034263
Gene Nameintegrator complex subunit 14
SynonymsVwa9, 2010321M09Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.685) question?
Stock #IGL00546
Quality Score
Status
Chromosome9
Chromosomal Location64960905-64986978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64972792 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 196 (N196I)
Ref Sequence ENSEMBL: ENSMUSP00000127420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037504] [ENSMUST00000170517]
Predicted Effect probably benign
Transcript: ENSMUST00000037504
AA Change: N196I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: N196I

DomainStartEndE-ValueType
VWA 2 181 7.54e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170517
AA Change: N196I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: N196I

DomainStartEndE-ValueType
VWA 2 181 7.54e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215789
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,090,576 V127A possibly damaging Het
9130008F23Rik C A 17: 40,880,113 V142L possibly damaging Het
Adnp2 T C 18: 80,128,867 T776A probably benign Het
Arid4a T A 12: 71,075,671 V942E probably benign Het
Bdnf C T 2: 109,723,547 P89S probably benign Het
Camsap3 A G 8: 3,602,077 D302G probably damaging Het
Cnot6 A T 11: 49,685,266 S158T probably benign Het
Dbt A C 3: 116,539,281 K250Q probably benign Het
Exd2 A G 12: 80,480,547 I171M probably benign Het
Gm5415 A T 1: 32,546,667 M54K probably benign Het
Krt79 G T 15: 101,929,873 N482K probably benign Het
Loxhd1 G A 18: 77,405,976 A678T probably damaging Het
Mkl2 C A 16: 13,403,222 A754D probably benign Het
Mkl2 T G 16: 13,403,225 L766R possibly damaging Het
Mrpl51 A G 6: 125,193,214 probably benign Het
Nipsnap1 A G 11: 4,889,098 E126G possibly damaging Het
Plxnb2 A G 15: 89,162,366 probably benign Het
Slc15a5 A G 6: 138,043,538 Y266H probably damaging Het
Ttn C A 2: 76,867,473 D73Y probably damaging Het
Other mutations in Ints14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0376:Ints14 UTSW 9 64983990 missense probably damaging 0.98
R0589:Ints14 UTSW 9 64979831 missense probably damaging 1.00
R0614:Ints14 UTSW 9 64964433 missense probably benign
R0708:Ints14 UTSW 9 64983984 missense probably benign 0.29
R1192:Ints14 UTSW 9 64966763 missense possibly damaging 0.86
R2114:Ints14 UTSW 9 64979795 missense probably damaging 1.00
R2115:Ints14 UTSW 9 64979795 missense probably damaging 1.00
R2117:Ints14 UTSW 9 64979795 missense probably damaging 1.00
R2484:Ints14 UTSW 9 64986084 missense probably benign
R4811:Ints14 UTSW 9 64964518 missense probably damaging 1.00
R4953:Ints14 UTSW 9 64982058 missense probably damaging 1.00
R5067:Ints14 UTSW 9 64964412 missense probably damaging 1.00
R6080:Ints14 UTSW 9 64966762 missense probably benign 0.02
R6326:Ints14 UTSW 9 64964437 missense probably benign 0.08
R6395:Ints14 UTSW 9 64978124 splice site probably null
R7036:Ints14 UTSW 9 64964545 missense probably benign
R7147:Ints14 UTSW 9 64983985 missense possibly damaging 0.93
R7203:Ints14 UTSW 9 64964419 missense probably damaging 1.00
Posted On2012-04-20