Incidental Mutation 'RF027:Dmkn'
ID 604190
Institutional Source Beutler Lab
Gene Symbol Dmkn
Ensembl Gene ENSMUSG00000060962
Gene Name dermokine
Synonyms dermokine, sk30, sk89, Dmkn, cI-36, 1110014F24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # RF027 (G1)
Quality Score 217.468
Status Not validated
Chromosome 7
Chromosomal Location 30463181-30480488 bp(+) (GRCm39)
Type of Mutation small insertion (9 aa in frame mutation)
DNA Base Change (assembly) GTGGA to GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA at 30466619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054427] [ENSMUST00000085688] [ENSMUST00000085691] [ENSMUST00000165887] [ENSMUST00000188578]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000054427
SMART Domains Protein: ENSMUSP00000060362
Gene: ENSMUSG00000060962

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
internal_repeat_3 22 50 5.96e-5 PROSPERO
internal_repeat_2 25 53 3.87e-5 PROSPERO
internal_repeat_2 45 73 3.87e-5 PROSPERO
internal_repeat_3 65 94 5.96e-5 PROSPERO
low complexity region 123 151 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
low complexity region 211 290 N/A INTRINSIC
low complexity region 312 331 N/A INTRINSIC
low complexity region 347 359 N/A INTRINSIC
internal_repeat_1 387 414 3.28e-7 PROSPERO
internal_repeat_1 422 449 3.28e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000085688
SMART Domains Protein: ENSMUSP00000082831
Gene: ENSMUSG00000060962

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
internal_repeat_3 22 50 6.61e-5 PROSPERO
internal_repeat_2 25 53 4.31e-5 PROSPERO
internal_repeat_2 45 73 4.31e-5 PROSPERO
internal_repeat_3 65 94 6.61e-5 PROSPERO
low complexity region 123 151 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
low complexity region 211 308 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
internal_repeat_1 363 390 3.84e-7 PROSPERO
internal_repeat_1 398 425 3.84e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000085691
SMART Domains Protein: ENSMUSP00000082834
Gene: ENSMUSG00000060962

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
internal_repeat_3 22 50 6.12e-5 PROSPERO
internal_repeat_2 25 53 3.97e-5 PROSPERO
internal_repeat_2 45 73 3.97e-5 PROSPERO
internal_repeat_3 65 94 6.12e-5 PROSPERO
low complexity region 123 151 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
low complexity region 211 290 N/A INTRINSIC
low complexity region 300 322 N/A INTRINSIC
low complexity region 338 350 N/A INTRINSIC
internal_repeat_1 378 405 3.43e-7 PROSPERO
internal_repeat_1 413 440 3.43e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000165887
SMART Domains Protein: ENSMUSP00000129031
Gene: ENSMUSG00000060962

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
internal_repeat_2 25 53 9.56e-5 PROSPERO
internal_repeat_2 45 73 9.56e-5 PROSPERO
low complexity region 123 151 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
low complexity region 211 290 N/A INTRINSIC
low complexity region 300 322 N/A INTRINSIC
low complexity region 338 349 N/A INTRINSIC
internal_repeat_1 394 421 1.01e-6 PROSPERO
internal_repeat_1 429 456 1.01e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000188578
SMART Domains Protein: ENSMUSP00000140196
Gene: ENSMUSG00000060962

DomainStartEndE-ValueType
low complexity region 5 102 N/A INTRINSIC
low complexity region 117 128 N/A INTRINSIC
internal_repeat_1 173 200 3.77e-7 PROSPERO
internal_repeat_1 208 235 3.77e-7 PROSPERO
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign Het
Other mutations in Dmkn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Dmkn APN 7 30,477,695 (GRCm39) critical splice donor site probably null
IGL03084:Dmkn APN 7 30,470,481 (GRCm39) missense possibly damaging 0.82
IGL03376:Dmkn APN 7 30,470,667 (GRCm39) missense possibly damaging 0.92
R0077:Dmkn UTSW 7 30,464,719 (GRCm39) missense probably benign 0.00
R0718:Dmkn UTSW 7 30,464,211 (GRCm39) unclassified probably benign
R0892:Dmkn UTSW 7 30,466,829 (GRCm39) missense probably damaging 1.00
R1163:Dmkn UTSW 7 30,464,476 (GRCm39) missense probably damaging 1.00
R1858:Dmkn UTSW 7 30,463,990 (GRCm39) missense probably benign 0.08
R2915:Dmkn UTSW 7 30,464,741 (GRCm39) missense unknown
R4705:Dmkn UTSW 7 30,463,406 (GRCm39) missense probably damaging 1.00
R4806:Dmkn UTSW 7 30,470,667 (GRCm39) missense possibly damaging 0.92
R4921:Dmkn UTSW 7 30,470,658 (GRCm39) missense probably damaging 0.99
R5031:Dmkn UTSW 7 30,463,661 (GRCm39) missense probably benign 0.09
R5056:Dmkn UTSW 7 30,463,529 (GRCm39) missense probably damaging 1.00
R5577:Dmkn UTSW 7 30,463,971 (GRCm39) missense probably damaging 1.00
R5780:Dmkn UTSW 7 30,477,040 (GRCm39) missense probably damaging 1.00
R6233:Dmkn UTSW 7 30,479,104 (GRCm39) missense probably damaging 0.99
R6504:Dmkn UTSW 7 30,475,854 (GRCm39) missense possibly damaging 0.82
R7383:Dmkn UTSW 7 30,464,793 (GRCm39) missense unknown
R7526:Dmkn UTSW 7 30,477,076 (GRCm39) missense possibly damaging 0.90
R7667:Dmkn UTSW 7 30,477,034 (GRCm39) missense probably damaging 1.00
R8790:Dmkn UTSW 7 30,463,449 (GRCm39) missense probably benign 0.33
R9792:Dmkn UTSW 7 30,464,845 (GRCm39) missense unknown
RF007:Dmkn UTSW 7 30,469,129 (GRCm39) splice site probably null
RF022:Dmkn UTSW 7 30,466,600 (GRCm39) small insertion probably benign
RF030:Dmkn UTSW 7 30,466,607 (GRCm39) small insertion probably benign
RF032:Dmkn UTSW 7 30,466,607 (GRCm39) small insertion probably benign
RF038:Dmkn UTSW 7 30,466,619 (GRCm39) small insertion probably benign
RF041:Dmkn UTSW 7 30,466,598 (GRCm39) small insertion probably benign
RF054:Dmkn UTSW 7 30,466,613 (GRCm39) small insertion probably benign
RF055:Dmkn UTSW 7 30,466,616 (GRCm39) small insertion probably benign
RF056:Dmkn UTSW 7 30,466,632 (GRCm39) small insertion probably benign
RF057:Dmkn UTSW 7 30,466,613 (GRCm39) small insertion probably benign
RF062:Dmkn UTSW 7 30,466,600 (GRCm39) small insertion probably benign
X0067:Dmkn UTSW 7 30,477,652 (GRCm39) missense possibly damaging 0.86
Z1176:Dmkn UTSW 7 30,475,922 (GRCm39) missense possibly damaging 0.82
Z1186:Dmkn UTSW 7 30,466,596 (GRCm39) small insertion probably benign
Z1186:Dmkn UTSW 7 30,464,826 (GRCm39) small deletion probably benign
Z1186:Dmkn UTSW 7 30,464,818 (GRCm39) small deletion probably benign
Z1186:Dmkn UTSW 7 30,466,602 (GRCm39) small insertion probably benign
Z1186:Dmkn UTSW 7 30,466,599 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- ATTTTCAAAGCCTGGGCCAG -3'
(R):5'- ACATCATTCCCTGGGTTGTTAC -3'

Sequencing Primer
(F):5'- GGCCTGGCCTTCTATTGCTG -3'
(R):5'- CATTCCCTGGGTTGTTACACTGTAG -3'
Posted On 2019-12-04