Incidental Mutation 'IGL01089:Krt32'
ID 52262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt32
Ensembl Gene ENSMUSG00000046095
Gene Name keratin 32
Synonyms mHa2, Krt1-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01089
Quality Score
Status
Chromosome 11
Chromosomal Location 100080848-100088226 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100087779 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 150 (S150P)
Ref Sequence ENSEMBL: ENSMUSP00000103042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103127] [ENSMUST00000107419]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103127
SMART Domains Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013

DomainStartEndE-ValueType
low complexity region 33 43 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
Filament 96 407 3.32e-159 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107419
AA Change: S150P

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: S150P

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
Filament 100 411 5.4e-150 SMART
low complexity region 435 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173988
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,337 E180G possibly damaging Het
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Bmt2 A G 6: 13,663,271 M76T probably damaging Het
Clca3b A T 3: 144,823,522 V797D probably benign Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Lrtm2 C T 6: 119,320,792 R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 V199I probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null Het
Other mutations in Krt32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01454:Krt32 APN 11 100084081 missense probably damaging 1.00
IGL02268:Krt32 APN 11 100088141 missense probably benign 0.21
IGL02502:Krt32 APN 11 100087923 missense probably damaging 1.00
IGL02967:Krt32 APN 11 100084050 missense possibly damaging 0.93
IGL02799:Krt32 UTSW 11 100087907 missense possibly damaging 0.54
R0840:Krt32 UTSW 11 100081242 missense probably benign 0.00
R1503:Krt32 UTSW 11 100084110 critical splice acceptor site probably null
R1944:Krt32 UTSW 11 100084844 critical splice acceptor site probably null
R1945:Krt32 UTSW 11 100084844 critical splice acceptor site probably null
R2426:Krt32 UTSW 11 100086366 missense possibly damaging 0.76
R3774:Krt32 UTSW 11 100088121 missense probably benign 0.00
R3775:Krt32 UTSW 11 100088121 missense probably benign 0.00
R3776:Krt32 UTSW 11 100088121 missense probably benign 0.00
R5522:Krt32 UTSW 11 100086671 critical splice donor site probably null
R5794:Krt32 UTSW 11 100084986 missense probably damaging 0.99
R6109:Krt32 UTSW 11 100087965 missense probably benign 0.01
R6994:Krt32 UTSW 11 100086445 missense probably damaging 1.00
R7375:Krt32 UTSW 11 100081224 missense probably benign 0.18
R7577:Krt32 UTSW 11 100081221 missense probably benign 0.00
R8249:Krt32 UTSW 11 100086722 missense probably benign 0.00
R9207:Krt32 UTSW 11 100086754 missense possibly damaging 0.61
R9303:Krt32 UTSW 11 100081203 missense probably benign 0.00
R9305:Krt32 UTSW 11 100081203 missense probably benign 0.00
R9684:Krt32 UTSW 11 100086482 missense probably damaging 1.00
Z1088:Krt32 UTSW 11 100088216 missense probably benign
Z1177:Krt32 UTSW 11 100084069 missense possibly damaging 0.95
Posted On 2013-06-21