Incidental Mutation 'R6980:Kdf1'
ID 543755
Institutional Source Beutler Lab
Gene Symbol Kdf1
Ensembl Gene ENSMUSG00000037600
Gene Name keratinocyte differentiation factor 1
Synonyms 1810019J16Rik
MMRRC Submission 045088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6980 (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 T at 133256138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 285 (D285V)
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: D285V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: D285V

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: D285V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: D285V

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: D285V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: D285V

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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C A 2: 25,330,878 (GRCm39) R1189S possibly damaging Het
Abcf2 T C 5: 24,770,970 (GRCm39) Q594R probably benign Het
Abhd18 G A 3: 40,888,215 (GRCm39) S353N probably benign Het
Adrb1 G T 19: 56,712,046 (GRCm39) A415S probably benign Het
Art2b T C 7: 101,229,680 (GRCm39) N73S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGT 3: 95,795,480 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Cacna1a A G 8: 85,338,914 (GRCm39) M1753V possibly damaging Het
Cbx8 A T 11: 118,930,287 (GRCm39) I102N possibly damaging Het
Ccdc178 T A 18: 22,238,620 (GRCm39) E332D probably benign Het
Cdhr17 T A 5: 17,031,944 (GRCm39) V533D possibly damaging Het
Cfap74 G A 4: 155,550,809 (GRCm39) probably benign Het
Chat A T 14: 32,146,111 (GRCm39) M354K probably benign Het
Cmas A G 6: 142,702,526 (GRCm39) T10A probably damaging Het
Cyb561d1 A T 3: 108,107,475 (GRCm39) L51H probably benign Het
D030056L22Rik A T 19: 18,694,629 (GRCm39) N128I probably damaging Het
D130043K22Rik G T 13: 25,048,764 (GRCm39) A423S probably damaging Het
Dnah14 T C 1: 181,475,795 (GRCm39) I1349T probably benign Het
Dnajb3 T G 1: 88,132,736 (GRCm39) D222A probably damaging Het
Dtx1 T C 5: 120,819,422 (GRCm39) E592G probably damaging Het
Dzank1 C T 2: 144,332,056 (GRCm39) G427R possibly damaging Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Eif4e1b T A 13: 54,931,916 (GRCm39) probably null Het
Ell2 A G 13: 75,904,495 (GRCm39) M159V probably null Het
Eml4 G A 17: 83,758,446 (GRCm39) V377I probably benign Het
Fryl A T 5: 73,207,773 (GRCm39) S2466T probably benign Het
Gfpt1 C A 6: 87,054,071 (GRCm39) T426K probably damaging Het
Gm49355 T C 14: 12,307,173 (GRCm38) probably benign Het
Gm5114 T C 7: 39,058,624 (GRCm39) I332V probably benign Het
Gpr15 T A 16: 58,539,105 (GRCm39) probably benign Het
Gpr179 T C 11: 97,225,684 (GRCm39) E2157G probably benign Het
Gramd4 A G 15: 86,016,170 (GRCm39) N482S probably benign Het
Hfm1 A T 5: 107,028,343 (GRCm39) I829K probably benign Het
Hydin A T 8: 111,139,916 (GRCm39) E728D possibly damaging Het
Ifngr2 T A 16: 91,356,895 (GRCm39) V143E probably damaging Het
Ift172 T C 5: 31,414,730 (GRCm39) D1390G probably benign Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mdn1 G A 4: 32,726,942 (GRCm39) probably null Het
Megf11 A G 9: 64,613,132 (GRCm39) E1016G probably damaging Het
Mixl1 G A 1: 180,524,453 (GRCm39) A42V possibly damaging Het
Mpp2 A G 11: 101,950,154 (GRCm39) W567R probably damaging Het
Mrgpra6 A G 7: 46,838,697 (GRCm39) L136P probably damaging Het
Mroh7 T A 4: 106,557,434 (GRCm39) I759L probably benign Het
Nrxn2 A G 19: 6,500,609 (GRCm39) D277G probably benign Het
Nup210l A T 3: 90,027,234 (GRCm39) K205N probably benign Het
Or4g17 A G 2: 111,209,620 (GRCm39) I92V possibly damaging Het
Or4p4b-ps1 A G 2: 88,453,939 (GRCm39) *97W probably null Het
Or52e19b T C 7: 103,032,303 (GRCm39) E302G probably benign Het
Or5al6 A T 2: 85,976,681 (GRCm39) Y132* probably null Het
Oxnad1 C T 14: 31,807,576 (GRCm39) probably benign Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcdhgb5 C T 18: 37,866,592 (GRCm39) H796Y possibly damaging Het
Pdlim7 G T 13: 55,656,041 (GRCm39) D126E probably benign Het
Pfdn2 C T 1: 171,185,465 (GRCm39) probably benign Het
Piezo2 T A 18: 63,216,032 (GRCm39) probably null Het
Pms2 A T 5: 143,848,842 (GRCm39) I43L probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Ptpn4 T A 1: 119,671,151 (GRCm39) E202D possibly damaging Het
Rnf40 T A 7: 127,193,849 (GRCm39) V455E probably damaging Het
Rp1l1 A G 14: 64,266,169 (GRCm39) N585S probably benign Het
Rrp12 A G 19: 41,878,582 (GRCm39) S188P probably damaging Het
Rsbn1l T A 5: 21,101,482 (GRCm39) H686L probably benign Het
Runx2 C T 17: 45,046,203 (GRCm39) V107I possibly damaging Het
Rusc2 A G 4: 43,422,846 (GRCm39) I994M probably benign Het
Ryr1 T A 7: 28,808,812 (GRCm39) D420V probably benign Het
Sash1 T C 10: 8,605,612 (GRCm39) Q926R probably benign Het
Scgb3a2 T A 18: 43,897,499 (GRCm39) I6N probably damaging Het
Sdc3 T A 4: 130,544,233 (GRCm39) probably benign Het
Sik2 A G 9: 50,808,755 (GRCm39) V658A probably benign Het
Slc25a39 A G 11: 102,296,601 (GRCm39) V81A probably damaging Het
Snai2 T A 16: 14,526,113 (GRCm39) S255T possibly damaging Het
Sorbs1 A T 19: 40,316,060 (GRCm39) Y371* probably null Het
Spata31d1b A T 13: 59,863,236 (GRCm39) H128L probably benign Het
Spdl1 A T 11: 34,721,706 (GRCm39) M1K probably null Het
Tgm3 T A 2: 129,868,697 (GRCm39) N211K probably benign Het
Tmem116 T C 5: 121,606,050 (GRCm39) probably null Het
Tmem132e T A 11: 82,329,212 (GRCm39) probably null Het
Tmem53 T C 4: 117,125,705 (GRCm39) C251R probably damaging Het
Trcg1 A C 9: 57,152,856 (GRCm39) D551A probably damaging Het
Trp63 T A 16: 25,620,843 (GRCm39) F12I probably benign Het
Ttn C T 2: 76,709,401 (GRCm39) probably null Het
Tubgcp4 T C 2: 121,025,946 (GRCm39) V596A probably benign Het
Ugt2a3 A C 5: 87,473,491 (GRCm39) H475Q probably damaging Het
Unc79 G A 12: 103,025,759 (GRCm39) R382K probably damaging Het
Vmn2r58 T C 7: 41,513,662 (GRCm39) H327R possibly damaging Het
Vmn2r7 G A 3: 64,623,987 (GRCm39) T111I possibly damaging Het
Zfp318 T A 17: 46,708,138 (GRCm39) Y399N 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
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
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'- ATGAATCGGACCTGGACCTG -3'
(R):5'- TAGAACTTCCCTACTCAGGCCC -3'

Sequencing Primer
(F):5'- ACCTGGACCTGCCTGAGATG -3'
(R):5'- ACCTACCGTCCTGGCTGAG -3'
Posted On 2019-05-13