Incidental Mutation 'IGL00401:Kptn'
ID5327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kptn
Ensembl Gene ENSMUSG00000006021
Gene Namekaptin
Synonymsactin-binding protein, C030013F01Rik, 2E4, 2310042D10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00401
Quality Score
Status
Chromosome7
Chromosomal Location16119895-16127516 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16120125 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000006178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006178] [ENSMUST00000006181]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006178
AA Change: D56G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: D56G

DomainStartEndE-ValueType
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000006181
SMART Domains Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024

DomainStartEndE-ValueType
Pfam:SNAP 8 288 4.5e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152044
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 71,895,748 D1164V probably damaging Het
Baiap3 T G 17: 25,244,328 L964F probably damaging Het
Cacna2d2 T A 9: 107,514,873 V471E probably damaging Het
Carmil3 C T 14: 55,498,298 T569M probably damaging Het
Dapk2 G T 9: 66,268,778 probably benign Het
Eps15l1 A T 8: 72,384,838 Y291* probably null Het
Fancd2 T C 6: 113,564,396 probably null Het
Fmnl2 T G 2: 53,114,917 D674E probably damaging Het
Foxq1 A T 13: 31,559,277 I121F probably damaging Het
Galnt13 C T 2: 54,516,535 probably benign Het
Git1 T C 11: 77,498,956 probably benign Het
Gm10220 A T 5: 26,118,611 F146Y possibly damaging Het
Gm7353 A G 7: 3,110,630 noncoding transcript Het
Hspa9 G A 18: 34,938,580 probably benign Het
Krtap4-13 A T 11: 99,809,717 C39S unknown Het
Lgsn A G 1: 31,203,566 K243R possibly damaging Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Mettl3 T A 14: 52,296,967 probably benign Het
Myh6 T A 14: 54,953,417 M934L probably benign Het
Nmnat2 A G 1: 153,094,117 probably null Het
Pias2 T A 18: 77,133,211 C381S probably damaging Het
Psme4 T C 11: 30,821,079 probably benign Het
Smc4 T A 3: 69,030,379 D887E probably damaging Het
Sorcs2 C A 5: 36,037,401 probably null Het
Tet2 T C 3: 133,466,882 E1873G possibly damaging Het
Txlng T A X: 162,782,309 K341* probably null Het
Ugt2b37 T A 5: 87,242,481 T369S possibly damaging Het
Usp46 C A 5: 74,003,171 V302F probably damaging Het
Zfp292 A G 4: 34,808,683 C1454R probably benign Het
Other mutations in Kptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Kptn APN 7 16123972 missense probably benign 0.05
IGL01938:Kptn APN 7 16124789 missense probably damaging 1.00
IGL02268:Kptn APN 7 16123861 missense probably benign 0.03
IGL02382:Kptn APN 7 16124020 missense probably benign 0.00
IGL02399:Kptn APN 7 16127113 unclassified probably benign
IGL03237:Kptn APN 7 16120125 missense probably damaging 0.97
captain UTSW 7 16125784 missense probably damaging 1.00
commander UTSW 7 16125785 nonsense probably null
mate UTSW 7 16123103 missense probably damaging 1.00
PIT4687001:Kptn UTSW 7 16125826 missense probably damaging 0.96
R0344:Kptn UTSW 7 16125741 missense probably damaging 1.00
R0726:Kptn UTSW 7 16120722 missense probably damaging 0.99
R1421:Kptn UTSW 7 16123024 splice site probably benign
R1545:Kptn UTSW 7 16123963 missense probably benign 0.12
R2357:Kptn UTSW 7 16125784 missense probably damaging 1.00
R5068:Kptn UTSW 7 16123102 missense probably damaging 1.00
R5127:Kptn UTSW 7 16125785 nonsense probably null
R5195:Kptn UTSW 7 16123103 missense probably damaging 1.00
R5714:Kptn UTSW 7 16120758 unclassified probably null
R7121:Kptn UTSW 7 16123098 missense probably damaging 1.00
R7213:Kptn UTSW 7 16120779 missense possibly damaging 0.55
Z1088:Kptn UTSW 7 16123070 missense probably damaging 1.00
Posted On2012-04-20