Incidental Mutation 'R0698:Krtap9-3'
ID 62923
Institutional Source Beutler Lab
Gene Symbol Krtap9-3
Ensembl Gene ENSMUSG00000049809
Gene Name keratin associated protein 9-3
Synonyms 2310040M23Rik
MMRRC Submission 038882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R0698 (G1)
Quality Score 123
Status Not validated
Chromosome 11
Chromosomal Location 99488174-99488932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99488663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 73 (C73F)
Ref Sequence ENSEMBL: ENSMUSP00000057445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062683] [ENSMUST00000072306]
AlphaFold Q3V2C1
Predicted Effect probably damaging
Transcript: ENSMUST00000062683
AA Change: C73F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057445
Gene: ENSMUSG00000049809
AA Change: C73F

DomainStartEndE-ValueType
Pfam:Keratin_B2 1 51 1.9e-14 PFAM
Pfam:Keratin_B2_2 1 51 9.4e-7 PFAM
Pfam:Keratin_B2 35 131 1.4e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072306
SMART Domains Protein: ENSMUSP00000072150
Gene: ENSMUSG00000057674

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
Meta Mutation Damage Score 0.8119 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 C T 16: 35,110,452 (GRCm39) T873M possibly damaging Het
Ap4e1 G A 2: 126,905,283 (GRCm39) E985K probably benign Het
Arhgap18 T C 10: 26,788,625 (GRCm39) I579T probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Atm T C 9: 53,426,539 (GRCm39) E573G probably damaging Het
Baz1b T C 5: 135,227,075 (GRCm39) V92A probably damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Cpne4 T C 9: 104,802,994 (GRCm39) S213P probably damaging Het
Dock10 T A 1: 80,507,895 (GRCm39) Q1672L probably damaging Het
Grm8 C T 6: 27,363,913 (GRCm39) C534Y probably damaging Het
Ints7 A G 1: 191,326,576 (GRCm39) M183V probably damaging Het
Invs T G 4: 48,396,364 (GRCm39) S346A probably benign Het
Lrrtm4 T C 6: 79,999,911 (GRCm39) L441P probably damaging Het
Map4 C T 9: 109,897,856 (GRCm39) R81* probably null Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Necab1 T C 4: 15,005,041 (GRCm39) N141S probably benign Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Pcdhb2 A T 18: 37,430,419 (GRCm39) E797D probably benign Het
Pclo T C 5: 14,762,530 (GRCm39) Y3668H unknown Het
Peg10 T A 6: 4,756,835 (GRCm39) probably benign Het
Psd2 A G 18: 36,145,764 (GRCm39) I723V probably benign Het
Ptprn2 C T 12: 116,685,750 (GRCm39) R70* probably null Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab13 C T 3: 90,132,043 (GRCm39) T69M probably damaging Het
Rpl32 T C 6: 115,782,551 (GRCm39) N126S probably benign Het
Sis C A 3: 72,817,831 (GRCm39) A1461S probably damaging Het
Slc2a13 T C 15: 91,205,870 (GRCm39) D439G probably benign Het
Spta1 T C 1: 174,008,670 (GRCm39) L258P probably damaging Het
Synj1 T C 16: 90,757,503 (GRCm39) T882A probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tet2 A T 3: 133,173,145 (GRCm39) S1706T probably benign Het
Ttc6 G A 12: 57,720,002 (GRCm39) V858I probably benign Het
Tut4 T A 4: 108,412,730 (GRCm39) M1477K probably benign Het
Vps13c C A 9: 67,797,005 (GRCm39) A464E probably benign Het
Zbtb17 T C 4: 141,193,407 (GRCm39) probably null Het
Zcwpw1 G A 5: 137,815,783 (GRCm39) E429K probably benign Het
Other mutations in Krtap9-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02358:Krtap9-3 APN 11 99,488,885 (GRCm39) unclassified probably benign
FR4737:Krtap9-3 UTSW 11 99,488,830 (GRCm39) unclassified probably benign
FR4976:Krtap9-3 UTSW 11 99,488,830 (GRCm39) unclassified probably benign
R0206:Krtap9-3 UTSW 11 99,488,663 (GRCm39) missense probably damaging 1.00
R0208:Krtap9-3 UTSW 11 99,488,663 (GRCm39) missense probably damaging 1.00
R5098:Krtap9-3 UTSW 11 99,488,816 (GRCm39) missense probably benign
R5190:Krtap9-3 UTSW 11 99,488,808 (GRCm39) missense probably benign
R7252:Krtap9-3 UTSW 11 99,488,796 (GRCm39) missense probably benign 0.01
R9463:Krtap9-3 UTSW 11 99,488,526 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GATGTTGGCTCTTCCACCCCAAATG -3'
(R):5'- ATGGCCTGCTGTGCTACAAGCTTC -3'

Sequencing Primer
(F):5'- AGCCGTGTCAATAGCTGAGTTATC -3'
(R):5'- ACTTGCTCCACAGGTGGC -3'
Posted On 2013-07-30