Incidental Mutation 'IGL00503:Kdf1'
ID332486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdf1
Ensembl Gene ENSMUSG00000037600
Gene Namekeratinocyte differentiation factor 1
Synonyms1810019J16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00503
Quality Score
Status
Chromosome4
Chromosomal Location133518963-133530790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 133528157 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 62 (S62P)
Ref Sequence ENSEMBL: ENSMUSP00000113590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030665] [ENSMUST00000042919] [ENSMUST00000105901] [ENSMUST00000121797] [ENSMUST00000149807] [ENSMUST00000153811]
Predicted Effect probably benign
Transcript: ENSMUST00000030665
SMART Domains Protein: ENSMUSP00000030665
Gene: ENSMUSG00000028851

DomainStartEndE-ValueType
Pfam:Nudc_N 9 60 3.7e-16 PFAM
Pfam:NuDC 96 157 9.5e-23 PFAM
Pfam:CS 171 248 3.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000042919
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 34 397 5.4e-182 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105901
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 397 4e-216 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121797
AA Change: S62P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 375 1.4e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141860
Predicted Effect probably damaging
Transcript: ENSMUST00000149807
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119014
Gene: ENSMUSG00000037600
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 265 3e-132 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153811
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122170
Gene: ENSMUSG00000037600
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 173 4.6e-74 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality, short limbs, increased keratinocyte proliferation and impaired keratinocyte differentiation with epidermis overgrowth that covers ear and mouth openings and fuses the hindlimb, tail and genitals. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Kdf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2860:Kdf1 UTSW 4 133528541 missense probably damaging 1.00
R2861:Kdf1 UTSW 4 133528541 missense probably damaging 1.00
R2862:Kdf1 UTSW 4 133528541 missense probably damaging 1.00
R3035:Kdf1 UTSW 4 133528062 missense probably benign 0.03
R4851:Kdf1 UTSW 4 133528365 missense probably damaging 1.00
R5267:Kdf1 UTSW 4 133528947 missense probably damaging 1.00
R6980:Kdf1 UTSW 4 133528827 missense probably damaging 1.00
R7162:Kdf1 UTSW 4 133529918 missense unknown
R7779:Kdf1 UTSW 4 133528485 missense probably damaging 1.00
R8554:Kdf1 UTSW 4 133528877 missense probably damaging 0.97
Posted On2015-08-05