Incidental Mutation 'R7162:Kdf1'
ID 557638
Institutional Source Beutler Lab
Gene Symbol Kdf1
Ensembl Gene ENSMUSG00000037600
Gene Name keratinocyte differentiation factor 1
Synonyms 1810019J16Rik
MMRRC Submission 045261-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7162 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133246274-133258101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133257229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 375 (T375I)
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 benign
Transcript: ENSMUST00000042919
SMART Domains Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 34 397 5.4e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105901
SMART Domains Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:DUF4656 29 397 4e-216 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000121797
AA Change: T375I
SMART Domains Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: T375I

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (85/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C T 1: 87,055,471 (GRCm39) T506I unknown Het
Ank1 T C 8: 23,622,370 (GRCm39) W1640R possibly damaging Het
Atp2a2 A G 5: 122,627,387 (GRCm39) M126T probably benign Het
Bptf A T 11: 106,934,457 (GRCm39) probably null Het
Brat1 T C 5: 140,696,004 (GRCm39) V125A probably benign Het
Cables1 T C 18: 12,059,423 (GRCm39) probably null Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Cacna1b A C 2: 24,590,034 (GRCm39) I558S probably benign Het
Ccdc166 A G 15: 75,853,044 (GRCm39) S308P probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfhr2 A G 1: 139,741,264 (GRCm39) V237A probably benign Het
Clybl C A 14: 122,608,732 (GRCm39) S108* probably null Het
Cubn A G 2: 13,347,309 (GRCm39) Y2070H probably damaging Het
Cyp8b1 A G 9: 121,744,777 (GRCm39) F185S probably damaging Het
Dennd2c T A 3: 103,063,423 (GRCm39) V620D probably damaging Het
Dis3l2 T C 1: 86,971,752 (GRCm39) F597L possibly damaging Het
Eif3f G A 7: 108,539,938 (GRCm39) R282H probably benign Het
Ell C A 8: 71,031,559 (GRCm39) R86S possibly damaging Het
Eppk1 A G 15: 75,990,809 (GRCm39) V2024A possibly damaging Het
Exoc6 T C 19: 37,565,566 (GRCm39) I214T probably damaging Het
Faim2 A G 15: 99,419,048 (GRCm39) probably null Het
Gli1 A G 10: 127,168,306 (GRCm39) S516P probably benign Het
Gm18596 A T 10: 77,578,034 (GRCm39) S147T unknown Het
Gm19965 A G 1: 116,750,095 (GRCm39) Y592C unknown Het
Gng12 T C 6: 66,994,285 (GRCm39) S36P unknown Het
Gramd2b G A 18: 56,618,529 (GRCm39) probably null Het
Hmcn1 T A 1: 150,624,744 (GRCm39) T1054S probably benign Het
Ifngr1 A G 10: 19,485,101 (GRCm39) T367A probably benign Het
Il21r G T 7: 125,231,483 (GRCm39) V304L probably benign Het
Ino80d G A 1: 63,104,894 (GRCm39) T394M probably damaging Het
Itfg2 C T 6: 128,387,546 (GRCm39) V380M probably damaging Het
Kcna5 C T 6: 126,510,806 (GRCm39) V441I possibly damaging Het
Kcp T A 6: 29,497,199 (GRCm39) probably null Het
Klk1b1 A T 7: 43,618,671 (GRCm39) D16V probably damaging Het
Krtap5-4 A C 7: 141,857,335 (GRCm39) T2P unknown Het
Lamtor1 A G 7: 101,555,243 (GRCm39) D13G probably benign Het
Lrp10 T C 14: 54,703,163 (GRCm39) V72A possibly damaging Het
Lrrc1 C A 9: 77,339,472 (GRCm39) A503S probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Myo5b C G 18: 74,828,498 (GRCm39) L717V probably benign Het
Myoz3 T A 18: 60,709,485 (GRCm39) R225S probably damaging Het
Myrf A G 19: 10,196,010 (GRCm39) F335L possibly damaging Het
Nfib A C 4: 82,268,677 (GRCm39) S292A probably damaging Het
Notch3 G T 17: 32,365,423 (GRCm39) H1096Q probably damaging Het
Nt5c1a A G 4: 123,107,898 (GRCm39) R194G probably benign Het
Or10d3 A G 9: 39,461,525 (GRCm39) I214T probably damaging Het
Or5a1 A G 19: 12,097,501 (GRCm39) F192L possibly damaging Het
Parp4 A G 14: 56,886,333 (GRCm39) E1804G unknown Het
Pcdhac2 A T 18: 37,278,840 (GRCm39) I607L probably benign Het
Pcdhb5 A G 18: 37,454,739 (GRCm39) D373G probably benign Het
Pcf11 A T 7: 92,313,221 (GRCm39) V154E probably damaging Het
Pdia3 T G 2: 121,260,002 (GRCm39) D180E probably benign Het
Piezo2 C A 18: 63,257,780 (GRCm39) V313F possibly damaging Het
Pik3ap1 C A 19: 41,309,965 (GRCm39) A452S probably benign Het
Plb1 A G 5: 32,507,007 (GRCm39) K1194R probably benign Het
Pld3 A C 7: 27,231,899 (GRCm39) W431G probably damaging Het
Plekha3 T C 2: 76,523,110 (GRCm39) probably null Het
Ppm1f G T 16: 16,732,057 (GRCm39) R169L probably damaging Het
Ppp2r3d A G 9: 124,439,673 (GRCm38) V60A Het
Prop1 T A 11: 50,842,881 (GRCm39) D102V probably damaging Het
Rbm27 G A 18: 42,447,092 (GRCm39) G446R unknown Het
Rc3h2 C A 2: 37,299,617 (GRCm39) V138L possibly damaging Het
Rorc G A 3: 94,284,915 (GRCm39) probably null Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sart3 A G 5: 113,900,896 (GRCm39) Y181H probably damaging Het
Sbpl A T 17: 24,172,439 (GRCm39) M160K possibly damaging Het
Sh3gl3 A G 7: 81,933,350 (GRCm39) S238G probably benign Het
Slc22a30 A G 19: 8,314,081 (GRCm39) probably null Het
Slc3a1 A T 17: 85,371,442 (GRCm39) R665* probably null Het
Stk32a C A 18: 43,430,649 (GRCm39) Y186* probably null Het
Stxbp6 T C 12: 44,949,663 (GRCm39) N89D probably benign Het
Svep1 A G 4: 58,070,262 (GRCm39) F2508S possibly damaging Het
Tas1r1 A G 4: 152,116,695 (GRCm39) V313A possibly damaging Het
Tmem81 T C 1: 132,435,355 (GRCm39) Y54H probably damaging Het
Tmtc1 T C 6: 148,172,985 (GRCm39) N582S probably damaging Het
Top2b T C 14: 16,416,653 (GRCm38) S1138P probably benign Het
Trim24 T A 6: 37,942,456 (GRCm39) N989K possibly damaging Het
Trim72 T A 7: 127,606,821 (GRCm39) M145K probably benign Het
Ttll9 T A 2: 152,831,523 (GRCm39) S154T probably damaging Het
Tusc3 T C 8: 39,593,741 (GRCm39) V286A probably benign Het
Vat1l C A 8: 114,963,518 (GRCm39) H185N probably damaging Het
Vmn1r209 A T 13: 22,990,128 (GRCm39) D187E probably damaging Het
Vmn2r87 T C 10: 130,313,416 (GRCm39) N450S probably benign Het
Wdr7 T A 18: 63,857,210 (GRCm39) D95E possibly damaging Het
Zfp937 C T 2: 150,081,439 (GRCm39) H490Y probably benign Het
Zfp974 A T 7: 27,610,944 (GRCm39) H260Q possibly 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
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
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'- CGCTTTTGTACAGTAAGCACCC -3'
(R):5'- GGGAGCTCTTGTAGATGCAG -3'

Sequencing Primer
(F):5'- CTTCTTCACTGAGCTGCAATAGGG -3'
(R):5'- GCTGGATGGCCACCTTACTC -3'
Posted On 2019-06-26