Incidental Mutation 'R7949:Krtap31-1'
ID 649475
Institutional Source Beutler Lab
Gene Symbol Krtap31-1
Ensembl Gene ENSMUSG00000070334
Gene Name keratin associated protein 31-1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R7949 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99907920-99908892 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99908318 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 116 (T116A)
Ref Sequence ENSEMBL: ENSMUSP00000091467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093935]
AlphaFold Q9D644
Predicted Effect possibly damaging
Transcript: ENSMUST00000093935
AA Change: T116A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: T116A

DomainStartEndE-ValueType
low complexity region 18 28 N/A INTRINSIC
low complexity region 40 56 N/A INTRINSIC
Pfam:Keratin_B2_2 64 107 1.9e-9 PFAM
Pfam:Keratin_B2_2 111 157 2.4e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik G A 7: 131,293,595 probably null Het
Adgrv1 G A 13: 81,155,234 T6111M probably damaging Het
Adprhl1 T G 8: 13,224,225 R844S possibly damaging Het
Aldh1b1 A G 4: 45,802,807 E115G possibly damaging Het
Anp32a A G 9: 62,373,666 E170G unknown Het
Arhgap27 A G 11: 103,337,769 S349P probably damaging Het
Asns T A 6: 7,685,328 I110F probably damaging Het
Atad3a T C 4: 155,748,695 H437R possibly damaging Het
Atl2 C A 17: 79,859,860 R244L probably damaging Het
Bcl2l14 A T 6: 134,430,120 D222V probably damaging Het
Ccdc102a G T 8: 94,905,285 Q498K probably damaging Het
Cdc14b T C 13: 64,190,398 probably null Het
Cep162 T A 9: 87,206,848 M994L probably benign Het
Ddx18 A G 1: 121,555,318 Y580H probably damaging Het
Entpd6 C A 2: 150,770,277 probably null Het
Fer T A 17: 64,133,508 S707T probably damaging Het
Gabra6 A G 11: 42,316,999 V215A probably benign Het
Gm20671 A G 5: 32,819,944 V142A probably benign Het
Gm6614 C A 6: 141,994,265 G171C probably damaging Het
Gtf3c1 G T 7: 125,651,081 N1439K probably benign Het
Igbp1b T C 6: 138,658,416 K10R probably benign Het
Ighv5-8 TATATATATATATATATATATATA TATATATATATATATATATATATATA 12: 113,654,943 probably null Het
Igkv12-44 A T 6: 69,814,890 S30T probably benign Het
Immt A T 6: 71,874,343 R563* probably null Het
Jakmip1 A T 5: 37,182,148 Q1231L probably damaging Het
Jsrp1 T C 10: 80,812,072 T51A probably benign Het
Lrp8 T A 4: 107,803,327 D61E probably damaging Het
Mark2 T C 19: 7,284,716 D311G probably benign Het
Men1 C T 19: 6,338,293 S314L possibly damaging Het
Nxpe2 T C 9: 48,323,097 N290S possibly damaging Het
Olfr1458 T A 19: 13,103,246 probably null Het
Olfr452 T C 6: 42,790,654 V205A possibly damaging Het
Pcolce2 A T 9: 95,694,635 T320S probably benign Het
Phc2 C T 4: 128,709,608 T177M probably damaging Het
Phf21b G T 15: 84,791,835 P337H probably damaging Het
Pinlyp G T 7: 24,545,950 T15K probably damaging Het
Ppox A T 1: 171,277,948 S307R probably benign Het
Ptk7 T A 17: 46,586,461 E315V possibly damaging Het
Pxk T C 14: 8,144,233 I327T probably damaging Het
Rabgap1 A T 2: 37,563,479 K973I probably benign Het
Rbbp8 A T 18: 11,718,835 I238L probably benign Het
Runx2 T A 17: 44,735,555 D109V possibly damaging Het
Serpinb6a G A 13: 33,923,020 S183L probably benign Het
Sptlc3 T C 2: 139,625,875 I451T possibly damaging Het
Sugp1 A T 8: 70,056,503 Y142F possibly damaging Het
Sumf2 T C 5: 129,852,918 F98S probably damaging Het
Tmem120a C T 5: 135,742,366 E39K possibly damaging Het
Tnxb C T 17: 34,717,129 P2680L probably damaging Het
Zfp78 C G 7: 6,379,366 R472G possibly damaging Het
Other mutations in Krtap31-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1608:Krtap31-1 UTSW 11 99908093 missense probably benign 0.18
R2284:Krtap31-1 UTSW 11 99908255 nonsense probably null
R2343:Krtap31-1 UTSW 11 99908021 missense possibly damaging 0.86
R4072:Krtap31-1 UTSW 11 99908232 missense possibly damaging 0.52
R4074:Krtap31-1 UTSW 11 99908232 missense possibly damaging 0.52
R4076:Krtap31-1 UTSW 11 99908232 missense possibly damaging 0.52
R4086:Krtap31-1 UTSW 11 99908319 missense possibly damaging 0.93
R4884:Krtap31-1 UTSW 11 99908484 missense unknown
R7644:Krtap31-1 UTSW 11 99908222 missense possibly damaging 0.71
R7670:Krtap31-1 UTSW 11 99908432 missense not run
R7897:Krtap31-1 UTSW 11 99908123 missense possibly damaging 0.73
R8158:Krtap31-1 UTSW 11 99908075 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TTGCAAGTCTATCTGCTGCC -3'
(R):5'- TTAAGAGGTGGCTTCGTGCAC -3'

Sequencing Primer
(F):5'- TGCCACAGCACCAAGACTG -3'
(R):5'- TTCGTGCACACAGGGCATG -3'
Posted On 2020-09-15