Incidental Mutation 'R8554:Kdf1'
ID 660010
Institutional Source Beutler Lab
Gene Symbol Kdf1
Ensembl Gene ENSMUSG00000037600
Gene Name keratinocyte differentiation factor 1
Synonyms 1810019J16Rik
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 133246274-133258101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133256188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 302 (I302V)
Ref Sequence ENSEMBL: ENSMUSP00000113590 (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 probably damaging
Transcript: ENSMUST00000042919
AA Change: I302V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: I302V

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: I302V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: I302V

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: I302V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: I302V

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign 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
R8881:Kdf1 UTSW 4 133,257,654 (GRCm39) missense possibly damaging 0.82
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'- CGACGTGCTTATTTTCAAGAAGC -3'
(R):5'- TTAAGAGAAGTGCCAGCTGG -3'

Sequencing Primer
(F):5'- CTGACAGAGCTGTTCAGCGTG -3'
(R):5'- AAAGCCCAATCCTTCTCCTGTAG -3'
Posted On 2021-01-18