Incidental Mutation 'IGL03092:Klf13'
ID418424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf13
Ensembl Gene ENSMUSG00000052040
Gene NameKruppel-like factor 13
SynonymsBteb3, 9430029L20Rik, Klf13, FKLF-2, RFLAT1, NSLP1, RFLAT-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.278) question?
Stock #IGL03092
Quality Score
Status
Chromosome7
Chromosomal Location63886351-63938915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63891669 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 237 (F237L)
Ref Sequence ENSEMBL: ENSMUSP00000067680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063694] [ENSMUST00000183817] [ENSMUST00000185175]
Predicted Effect probably damaging
Transcript: ENSMUST00000063694
AA Change: F237L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067680
Gene: ENSMUSG00000052040
AA Change: F237L

DomainStartEndE-ValueType
low complexity region 26 43 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 98 133 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
ZnF_C2H2 168 192 3.83e-2 SMART
ZnF_C2H2 198 222 1.82e-3 SMART
ZnF_C2H2 228 250 2.75e-3 SMART
low complexity region 260 289 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183782
Predicted Effect silent
Transcript: ENSMUST00000183817
SMART Domains Protein: ENSMUSP00000139049
Gene: ENSMUSG00000052040

DomainStartEndE-ValueType
ZnF_C2H2 29 53 1.82e-3 SMART
ZnF_C2H2 59 81 2.75e-3 SMART
low complexity region 91 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185175
SMART Domains Protein: ENSMUSP00000140381
Gene: ENSMUSG00000052040

DomainStartEndE-ValueType
low complexity region 23 52 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene are grossly normal. Prolonged thymocyte survival leads to an enlarged thymus and spleen. Mice homozygous for a different allele exhibit splenomegaly and abnormal erythropoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,406,470 L491P probably damaging Het
5430419D17Rik G T 7: 131,201,798 probably null Het
Abcc6 T A 7: 45,986,470 D1051V probably damaging Het
Aqr T A 2: 114,158,943 E133V probably benign Het
Bag6 A G 17: 35,145,627 N911D probably damaging Het
BC024978 T C 7: 27,201,136 M180T probably damaging Het
Ces4a C T 8: 105,148,204 probably benign Het
Clec3b A T 9: 123,151,035 probably benign Het
Cnot1 T C 8: 95,769,615 probably benign Het
Ctsg T A 14: 56,099,960 *262L probably null Het
Cyp17a1 T A 19: 46,672,611 H78L possibly damaging Het
Dcaf13 C A 15: 39,127,976 probably benign Het
Dcun1d1 G T 3: 35,920,992 Q52K possibly damaging Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dock1 A G 7: 134,765,216 probably benign Het
Dsel A G 1: 111,860,063 L914P probably damaging Het
Fbxo31 A G 8: 121,560,018 F174L probably benign Het
Gm9116 A G 3: 93,910,206 noncoding transcript Het
Gspt1 C T 16: 11,238,899 V211I probably benign Het
Hmgb1 A T 5: 149,050,698 S14T probably benign Het
Igsf8 A G 1: 172,312,529 probably benign Het
Mon2 A T 10: 123,018,100 I962N probably damaging Het
Nfx1 A G 4: 41,024,851 D1108G probably damaging Het
Nr2e1 T C 10: 42,571,482 Y178C probably damaging Het
Olfr1426 C A 19: 12,087,866 E309* probably null Het
Olfr646 A T 7: 104,106,647 I123F probably damaging Het
Pde3b A T 7: 114,523,348 H717L probably damaging Het
Polr1b T C 2: 129,123,129 Y712H probably damaging Het
Pramef25 C A 4: 143,950,197 K112N probably damaging Het
Rnf157 T A 11: 116,347,969 probably null Het
Ros1 T C 10: 52,098,806 E1561G probably damaging Het
Serpina6 A G 12: 103,653,895 probably null Het
St18 A G 1: 6,768,894 probably benign Het
Ugp2 A G 11: 21,329,722 probably benign Het
Vmn1r70 T C 7: 10,634,259 S225P probably benign Het
Zfp641 T C 15: 98,290,516 D161G probably damaging Het
Other mutations in Klf13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0027:Klf13 UTSW 7 63891761 missense probably benign 0.01
R0690:Klf13 UTSW 7 63938071 missense possibly damaging 0.80
R0762:Klf13 UTSW 7 63891623 missense probably benign 0.00
R1757:Klf13 UTSW 7 63891765 missense probably damaging 1.00
R2298:Klf13 UTSW 7 63891756 missense probably damaging 1.00
R4584:Klf13 UTSW 7 63937970 missense possibly damaging 0.51
R5644:Klf13 UTSW 7 63891560 utr 3 prime probably benign
R5645:Klf13 UTSW 7 63891600 utr 3 prime probably benign
R7400:Klf13 UTSW 7 63938248 missense probably benign 0.00
R7431:Klf13 UTSW 7 63891756 nonsense probably null
R8085:Klf13 UTSW 7 63891749 missense probably damaging 1.00
Posted On2016-08-02