Incidental Mutation 'R8881:Kdf1'
ID 676898
Institutional Source Beutler Lab
Gene Symbol Kdf1
Ensembl Gene ENSMUSG00000037600
Gene Name keratinocyte differentiation factor 1
Synonyms 1810019J16Rik
MMRRC Submission 068749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8881 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133246274-133258101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133257654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 390 (A390T)
Ref Sequence ENSEMBL: ENSMUSP00000048768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030665] [ENSMUST00000042919] [ENSMUST00000105901] [ENSMUST00000121797] [ENSMUST00000149807] [ENSMUST00000153811]
AlphaFold A2A9F4
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 possibly damaging
Transcript: ENSMUST00000042919
AA Change: A390T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: A390T

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 34 397 5.4e-182 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105901
AA Change: A390T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: A390T

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 397 4e-216 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121797
SMART Domains Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 375 1.4e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149807
SMART Domains Protein: ENSMUSP00000119014
Gene: ENSMUSG00000037600

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 265 3e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153811
SMART Domains Protein: ENSMUSP00000122170
Gene: ENSMUSG00000037600

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 173 4.6e-74 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (69/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,074,794 (GRCm39) C612Y probably benign Het
Adam21 T C 12: 81,606,650 (GRCm39) T371A probably benign Het
Akap9 T C 5: 4,011,279 (GRCm39) S661P Het
Anxa11 C T 14: 25,874,687 (GRCm39) R233C probably damaging Het
Capza3 A C 6: 139,987,521 (GRCm39) D40A probably damaging Het
Caskin1 C A 17: 24,718,273 (GRCm39) N294K probably damaging Het
Cdh1 T C 8: 107,392,904 (GRCm39) V796A probably benign Het
Cfap251 C T 5: 123,462,438 (GRCm39) P1249L probably damaging Het
Cped1 A T 6: 22,119,578 (GRCm39) T346S possibly damaging Het
Crisp4 A T 1: 18,185,902 (GRCm39) V278D probably damaging Het
Ddx60 A C 8: 62,474,343 (GRCm39) D1477A possibly damaging Het
Dmrtb1 T C 4: 107,537,922 (GRCm39) D82G possibly damaging Het
Dnah11 T C 12: 118,077,647 (GRCm39) N1282S probably benign Het
Dnah11 C T 12: 118,090,550 (GRCm39) V1104M probably benign Het
Dot1l A G 10: 80,621,429 (GRCm39) E630G probably damaging Het
Dppa4 C A 16: 48,108,299 (GRCm39) T28K Het
Dusp5 T A 19: 53,529,745 (GRCm39) S383T probably benign Het
Eef2k C T 7: 120,472,548 (GRCm39) A87V probably damaging Het
Epha1 T C 6: 42,337,961 (GRCm39) Y828C probably damaging Het
Erbb4 A C 1: 68,382,997 (GRCm39) probably null Het
Fam151b T A 13: 92,604,630 (GRCm39) M120L probably benign Het
Fam237b A C 5: 5,625,379 (GRCm39) D25A possibly damaging Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Frmd4b G T 6: 97,272,735 (GRCm39) H886N probably benign Het
Galnt17 T C 5: 130,906,635 (GRCm39) H511R probably benign Het
Grpel1 C A 5: 36,626,816 (GRCm39) Q33K possibly damaging Het
Gzmm A C 10: 79,530,819 (GRCm39) probably null Het
Hmcn1 C A 1: 150,525,723 (GRCm39) L3333F probably damaging Het
Il21r A T 7: 125,231,498 (GRCm39) T309S probably benign Het
Itgal G A 7: 126,929,541 (GRCm39) V1153M probably benign Het
Lcn11 G T 2: 25,669,296 (GRCm39) R151L probably benign Het
Lgi3 T A 14: 70,770,282 (GRCm39) Y116N probably damaging Het
Llgl2 A G 11: 115,743,866 (GRCm39) H731R probably benign Het
Lrp5 A T 19: 3,641,015 (GRCm39) S1482T probably damaging Het
Meis2 T C 2: 115,889,116 (GRCm39) D212G probably benign Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
Mrgprf A G 7: 144,861,999 (GRCm39) H187R probably benign Het
Mvd A G 8: 123,164,564 (GRCm39) probably null Het
Neb T C 2: 52,096,999 (GRCm39) I4938M possibly damaging Het
Nipal4 A T 11: 46,042,177 (GRCm39) M168K probably benign Het
Nr1h4 A G 10: 89,319,351 (GRCm39) Y158H probably damaging Het
Nrxn2 T C 19: 6,554,920 (GRCm39) I1133T probably benign Het
Numa1 T C 7: 101,650,684 (GRCm39) Y1472H probably benign Het
Or10ak8 A G 4: 118,774,571 (GRCm39) V31A probably benign Het
Or12j3 A G 7: 139,952,698 (GRCm39) V275A probably benign Het
Or2y10 G A 11: 49,455,209 (GRCm39) V154M probably benign Het
Or3a1d T C 11: 74,237,471 (GRCm39) D313G probably benign Het
Or52h7 A G 7: 104,213,619 (GRCm39) M64V possibly damaging Het
Pate7 T A 9: 35,689,384 (GRCm39) probably benign Het
Pcdha6 G T 18: 37,101,484 (GRCm39) V226F probably damaging Het
Pnpla6 G A 8: 3,581,489 (GRCm39) M605I probably benign Het
Ppp1r13l G A 7: 19,105,194 (GRCm39) R322H probably damaging Het
Sgtb T C 13: 104,258,046 (GRCm39) probably null Het
Skint6 T C 4: 112,672,716 (GRCm39) K1086E possibly damaging Het
Slc4a11 T C 2: 130,527,457 (GRCm39) E646G probably damaging Het
Speg G T 1: 75,377,795 (GRCm39) R851L possibly damaging Het
Spns3 T G 11: 72,429,912 (GRCm39) D172A probably damaging Het
Srgap3 A G 6: 112,700,098 (GRCm39) V984A probably benign Het
Syne1 A T 10: 5,223,639 (GRCm39) D3080E probably damaging Het
Taf5l T C 8: 124,730,101 (GRCm39) H196R possibly damaging Het
Tmem229a G C 6: 24,955,587 (GRCm39) R56G probably damaging Het
Tmprss6 A C 15: 78,327,987 (GRCm39) *582G probably null Het
Trip13 C A 13: 74,077,795 (GRCm39) R173L possibly damaging Het
Trpm7 A T 2: 126,661,883 (GRCm39) V1055E probably damaging Het
Utrn A G 10: 12,423,737 (GRCm39) I2T possibly damaging Het
V1rd19 T A 7: 23,703,081 (GRCm39) S182R possibly damaging Het
Vmn2r58 C A 7: 41,486,609 (GRCm39) G762V probably benign Het
Zfp874b T C 13: 67,622,141 (GRCm39) K386E probably damaging Het
Other mutations in Kdf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Kdf1 APN 4 133,255,468 (GRCm39) missense probably damaging 1.00
R2860:Kdf1 UTSW 4 133,255,852 (GRCm39) missense probably damaging 1.00
R2861:Kdf1 UTSW 4 133,255,852 (GRCm39) missense probably damaging 1.00
R2862:Kdf1 UTSW 4 133,255,852 (GRCm39) missense probably damaging 1.00
R3035:Kdf1 UTSW 4 133,255,373 (GRCm39) missense probably benign 0.03
R4851:Kdf1 UTSW 4 133,255,676 (GRCm39) missense probably damaging 1.00
R5267:Kdf1 UTSW 4 133,256,258 (GRCm39) missense probably damaging 1.00
R6980:Kdf1 UTSW 4 133,256,138 (GRCm39) missense probably damaging 1.00
R7162:Kdf1 UTSW 4 133,257,229 (GRCm39) missense unknown
R7779:Kdf1 UTSW 4 133,255,796 (GRCm39) missense probably damaging 1.00
R8554:Kdf1 UTSW 4 133,256,188 (GRCm39) missense probably damaging 0.97
R8885:Kdf1 UTSW 4 133,255,505 (GRCm39) missense probably damaging 1.00
R9135:Kdf1 UTSW 4 133,256,140 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTCTACTGCTGTCTCTAGGAGC -3'
(R):5'- ATGGCCCTGTGAAATGTATGTG -3'

Sequencing Primer
(F):5'- GTCTCTAGGAGCAAGGTCCTTAC -3'
(R):5'- ATGTGGTCTAAGGGGATTCAAC -3'
Posted On 2021-07-15