Incidental Mutation 'R6465:Krtap2-4'
ID517787
Institutional Source Beutler Lab
Gene Symbol Krtap2-4
Ensembl Gene ENSMUSG00000060756
Gene Namekeratin associated protein 2-4
Synonyms5530401P19Rik, KAP2.4, KRTAP2.4
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R6465 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location99614019-99614846 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 99614759 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073853] [ENSMUST00000074926] [ENSMUST00000076478]
Predicted Effect probably benign
Transcript: ENSMUST00000073853
SMART Domains Protein: ENSMUSP00000073519
Gene: ENSMUSG00000062278

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 58 1.5e-4 PFAM
Pfam:Keratin_B2_2 58 106 1.6e-5 PFAM
Pfam:Keratin_B2_2 97 136 6.6e-4 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000074926
AA Change: F9L
SMART Domains Protein: ENSMUSP00000074461
Gene: ENSMUSG00000060756
AA Change: F9L

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 56 5.8e-4 PFAM
Pfam:Keratin_B2 1 72 2.6e-12 PFAM
Pfam:Keratin_B2_2 53 101 1.3e-5 PFAM
Pfam:Keratin_B2_2 92 131 6.1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076478
SMART Domains Protein: ENSMUSP00000075802
Gene: ENSMUSG00000058725

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 56 5.8e-4 PFAM
Pfam:Keratin_B2 1 72 2.6e-12 PFAM
Pfam:Keratin_B2_2 53 101 1.3e-5 PFAM
Pfam:Keratin_B2_2 92 131 6.1e-4 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230113P08Rik A T 9: 35,908,625 N25Y possibly damaging Het
A2ml1 G A 6: 128,541,078 T1415I probably damaging Het
Acvr2b T A 9: 119,433,303 W461R probably damaging Het
Adam23 G T 1: 63,566,668 C637F probably damaging Het
Apol8 T G 15: 77,749,948 T143P probably benign Het
Asna1 A T 8: 85,018,565 M291K probably benign Het
Bfsp1 A C 2: 143,858,055 probably null Het
Cytl1 T C 5: 37,737,670 V99A probably benign Het
Dock2 A T 11: 34,503,413 V793E probably damaging Het
Fxyd5 G T 7: 31,037,880 T81K probably damaging Het
Gcm1 A G 9: 78,064,869 Y364C probably damaging Het
Gm37596 A G 3: 93,692,996 I22T probably damaging Het
Gm9992 G T 17: 7,374,443 T202K probably damaging Het
Haghl T C 17: 25,783,819 N190S possibly damaging Het
Inpp5j C A 11: 3,502,293 R319L possibly damaging Het
Ints10 A G 8: 68,807,536 N304S probably benign Het
Isoc1 T A 18: 58,671,256 C119S probably damaging Het
Klhl18 A G 9: 110,428,920 M414T probably benign Het
Krtap3-1 G A 11: 99,566,451 P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,232,257 probably null Het
Myo7a A G 7: 98,062,680 V1754A possibly damaging Het
Nedd4l T A 18: 65,155,264 D119E probably benign Het
Nsun7 T C 5: 66,295,586 V548A probably benign Het
Olfr1024 A T 2: 85,904,539 S172T probably benign Het
Olfr711 A T 7: 106,972,212 V44E possibly damaging Het
Parvg A G 15: 84,328,940 D127G probably damaging Het
Piezo2 T A 18: 63,041,663 M2007L possibly damaging Het
Pou2f3 A C 9: 43,139,867 F175V probably damaging Het
Ptprn2 T C 12: 117,269,589 I958T probably damaging Het
Pwwp2b T C 7: 139,256,035 V464A probably benign Het
Pzp A G 6: 128,491,619 Y982H probably damaging Het
Rad17 T A 13: 100,637,080 N202I probably benign Het
Rtel1 T A 2: 181,335,940 D271E possibly damaging Het
Sos2 T C 12: 69,596,775 S943G probably benign Het
Tm9sf2 A G 14: 122,141,207 H241R probably benign Het
Ttc8 A G 12: 98,964,570 E291G probably damaging Het
Wfikkn1 A G 17: 25,878,718 C211R probably damaging Het
Ylpm1 T A 12: 85,049,802 D1219E probably damaging Het
Zc3hav1 T C 6: 38,331,849 Y586C possibly damaging Het
Zcchc4 T A 5: 52,819,276 F471I probably benign Het
Zfp719 C A 7: 43,590,684 Y565* probably null Het
Other mutations in Krtap2-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1782:Krtap2-4 UTSW 11 99614527 missense probably damaging 1.00
R1883:Krtap2-4 UTSW 11 99614679 unclassified probably benign
R1884:Krtap2-4 UTSW 11 99614679 unclassified probably benign
R2102:Krtap2-4 UTSW 11 99614780 unclassified probably benign
R6937:Krtap2-4 UTSW 11 99614473 unclassified probably benign
R7361:Krtap2-4 UTSW 11 99614594 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCACAGCTGTGCAAGAG -3'
(R):5'- AACTGAATCCAGGGCTCTCTTTTC -3'

Sequencing Primer
(F):5'- CTGTGCAAGAGGTGGGGC -3'
(R):5'- CAGGGCTCTCTTTTCATTGGGTAAC -3'
Posted On2018-05-21