Incidental Mutation 'R3980:Krt31'
ID 311275
Institutional Source Beutler Lab
Gene Symbol Krt31
Ensembl Gene ENSMUSG00000048981
Gene Name keratin 31
Synonyms Kha1, Ha1, MKHA-1, Krt1-1
MMRRC Submission 040843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3980 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 99937472-99941377 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99939030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 264 (Q264K)
Ref Sequence ENSEMBL: ENSMUSP00000007318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007318]
AlphaFold Q61765
Predicted Effect probably damaging
Transcript: ENSMUST00000007318
AA Change: Q264K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007318
Gene: ENSMUSG00000048981
AA Change: Q264K

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Filament 55 366 2.14e-153 SMART
low complexity region 384 411 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136820
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,454,792 (GRCm39) G268R probably damaging Het
Amacr T A 15: 10,989,015 (GRCm39) Y240* probably null Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Arhgef25 C A 10: 127,023,089 (GRCm39) C106F probably damaging Het
Bean1 A T 8: 104,937,730 (GRCm39) Q103L possibly damaging Het
Ccr9 A T 9: 123,608,441 (GRCm39) N41I probably benign Het
Ceacam16 A G 7: 19,592,558 (GRCm39) F117L probably benign Het
Col4a1 T C 8: 11,289,155 (GRCm39) probably benign Het
Csk A G 9: 57,538,063 (GRCm39) Y48H probably damaging Het
Csmd1 T A 8: 15,956,056 (GRCm39) K3384* probably null Het
Ctnnd2 T A 15: 30,669,589 (GRCm39) H399Q probably benign Het
Cutal T C 2: 34,772,325 (GRCm39) Y30H possibly damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Defb30 C A 14: 63,273,421 (GRCm39) C64F probably damaging Het
Eif2a T C 3: 58,446,960 (GRCm39) I45T probably benign Het
Esyt1 T A 10: 128,347,393 (GRCm39) D1044V probably damaging Het
Gabpb2 A T 3: 95,096,081 (GRCm39) V382E probably damaging Het
Glb1 T A 9: 114,246,132 (GRCm39) I61K probably damaging Het
Insyn2b G A 11: 34,352,678 (GRCm39) C240Y probably benign Het
Kcnt1 T C 2: 25,783,226 (GRCm39) V263A possibly damaging Het
Kdm5b A G 1: 134,547,408 (GRCm39) D1019G probably benign Het
Klhl2 A T 8: 65,196,109 (GRCm39) L545M probably damaging Het
Klhl2 C A 8: 65,196,115 (GRCm39) G543C probably damaging Het
Lmnb1 A G 18: 56,864,091 (GRCm39) D232G probably damaging Het
Loxhd1 T C 18: 77,501,855 (GRCm39) F859L probably damaging Het
Map7 C A 10: 20,143,099 (GRCm39) T416K unknown Het
Med18 T A 4: 132,190,251 (GRCm39) I45F probably benign Het
Mn1 A T 5: 111,569,636 (GRCm39) H1202L possibly damaging Het
Mpp7 T C 18: 7,444,062 (GRCm39) D120G probably benign Het
Nlrp1b A T 11: 71,072,437 (GRCm39) F469I possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Nrap G A 19: 56,369,984 (GRCm39) A206V probably benign Het
Nuggc T C 14: 65,856,542 (GRCm39) probably null Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or10ak12 T A 4: 118,666,500 (GRCm39) Y187F probably benign Het
Or51a25 T C 7: 102,372,959 (GRCm39) N246S probably damaging Het
Parp3 T C 9: 106,351,267 (GRCm39) D278G probably damaging Het
Phc3 T A 3: 30,991,080 (GRCm39) Q346L probably damaging Het
Pigo A G 4: 43,019,231 (GRCm39) L1029P probably damaging Het
Plcb3 A G 19: 6,943,803 (GRCm39) I66T probably damaging Het
Plch2 T C 4: 155,069,255 (GRCm39) S1019G probably benign Het
Plekhg6 C A 6: 125,350,146 (GRCm39) C264F probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pou4f2 G T 8: 79,162,067 (GRCm39) H179N possibly damaging Het
Prpf39 T C 12: 65,108,231 (GRCm39) probably benign Het
Rapgef1 G A 2: 29,609,662 (GRCm39) V700I probably benign Het
Rdh14 A G 12: 10,444,703 (GRCm39) I185V probably benign Het
Rnf111 A T 9: 70,349,607 (GRCm39) H785Q probably damaging Het
Rttn C T 18: 89,035,399 (GRCm39) R758W probably benign Het
Sik3 G A 9: 46,113,361 (GRCm39) V601M probably damaging Het
Slc22a14 T C 9: 119,007,552 (GRCm39) T286A probably benign Het
Slc36a3 G A 11: 55,026,209 (GRCm39) T203I probably benign Het
Spata31 A T 13: 65,070,468 (GRCm39) Q872L probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Sphkap A T 1: 83,245,215 (GRCm39) probably null Het
Stat6 T C 10: 127,491,248 (GRCm39) V463A probably damaging Het
Stx7 T C 10: 24,060,947 (GRCm39) S225P probably damaging Het
Sult2a7 A T 7: 14,207,334 (GRCm39) probably benign Het
Tada2a A T 11: 83,993,946 (GRCm39) F179L probably benign Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tfap2d A G 1: 19,236,187 (GRCm39) I382V possibly damaging Het
Tshr C A 12: 91,504,517 (GRCm39) A485D probably damaging Het
Vmn1r32 T A 6: 66,530,698 (GRCm39) Y26F probably damaging Het
Vmn1r5 A G 6: 56,962,636 (GRCm39) T104A probably damaging Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Other mutations in Krt31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Krt31 APN 11 99,939,222 (GRCm39) missense probably damaging 1.00
IGL02433:Krt31 APN 11 99,939,221 (GRCm39) missense probably damaging 1.00
R0393:Krt31 UTSW 11 99,941,079 (GRCm39) missense probably damaging 1.00
R0667:Krt31 UTSW 11 99,938,951 (GRCm39) missense probably benign 0.02
R1224:Krt31 UTSW 11 99,940,690 (GRCm39) critical splice donor site probably null
R1544:Krt31 UTSW 11 99,938,699 (GRCm39) missense possibly damaging 0.48
R1891:Krt31 UTSW 11 99,938,634 (GRCm39) missense probably damaging 0.98
R1940:Krt31 UTSW 11 99,939,069 (GRCm39) missense probably benign 0.03
R1987:Krt31 UTSW 11 99,940,406 (GRCm39) missense probably benign 0.00
R2761:Krt31 UTSW 11 99,938,691 (GRCm39) missense probably benign 0.01
R2870:Krt31 UTSW 11 99,938,699 (GRCm39) missense possibly damaging 0.82
R2870:Krt31 UTSW 11 99,938,699 (GRCm39) missense possibly damaging 0.82
R4809:Krt31 UTSW 11 99,940,748 (GRCm39) missense possibly damaging 0.89
R4822:Krt31 UTSW 11 99,938,610 (GRCm39) missense possibly damaging 0.63
R4931:Krt31 UTSW 11 99,940,983 (GRCm39) missense probably benign 0.05
R6146:Krt31 UTSW 11 99,939,056 (GRCm39) missense probably benign 0.21
R6722:Krt31 UTSW 11 99,939,254 (GRCm39) missense probably damaging 1.00
R6811:Krt31 UTSW 11 99,939,242 (GRCm39) missense probably damaging 1.00
R6996:Krt31 UTSW 11 99,938,558 (GRCm39) missense probably benign 0.19
R7300:Krt31 UTSW 11 99,938,612 (GRCm39) missense probably damaging 0.96
R7548:Krt31 UTSW 11 99,940,346 (GRCm39) missense probably damaging 0.98
R8375:Krt31 UTSW 11 99,938,603 (GRCm39) missense probably benign 0.10
X0028:Krt31 UTSW 11 99,938,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGAAGTCACAGGCTTCAAAAG -3'
(R):5'- AGGCCATGGTGGAAACCAAC -3'

Sequencing Primer
(F):5'- CTTCAAAAGCTAAGAAGAGAGACAG -3'
(R):5'- TGGAAACCAACCGCCGG -3'
Posted On 2015-04-29