Mutagenetix > Incidental Mutations

Incidental Mutation 'RF041:Dmkn'

604820

Institutional Source

Beutler Lab

Gene Symbol

Dmkn

Ensembl Gene

ENSMUSG00000060962

Gene Name

dermokine

Synonyms

sk30, 1110014F24Rik, sk89, Dmkn, cI-36, dermokine

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

RF041 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

30763756-30781063 bp(+) (GRCm38)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

GGGGTGGAAG to GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG at 30767173 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,881,276		probably benign	Het
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,552,873		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,552,892		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,894		probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,905,100		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,229		probably benign	Het
Arid1b	CGG	CGGTGG	17: 4,995,595		probably benign	Het
AY761185	CACTGTGGG	C	8: 20,943,912		probably null	Het
Btnl1	C	T	17: 34,381,368	T246M	probably benign	Het
Cdc40	C	T	10: 40,843,123	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cul9	CCT	CCTACT	17: 46,500,854		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,485,823		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,762,177		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 72,270,049		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,758		probably benign	Het
Gykl1	G	A	18: 52,694,416	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,570,613		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,171,425		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,315,775		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 93,018,141		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,826		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,829		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,275,985		probably benign	Het
Med12l	GC	GCACC	3: 59,275,995		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,941,039		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Ngfr	CAGG	C	11: 95,587,511		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,627,579		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,627,593		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,627,607		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,785,332		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,732,868		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,614,866		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,631,021		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,833,576		probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,100		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,190,532		probably benign	Het
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,493,988		unknown	Het

Other mutations in Dmkn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Dmkn	APN	7	30778270	critical splice donor site	probably null
IGL03084:Dmkn	APN	7	30771056	missense	possibly damaging	0.82
IGL03376:Dmkn	APN	7	30771242	missense	possibly damaging	0.92
R0077:Dmkn	UTSW	7	30765294	missense	probably benign	0.00
R0718:Dmkn	UTSW	7	30764786	unclassified	probably benign
R0892:Dmkn	UTSW	7	30767404	missense	probably damaging	1.00
R1163:Dmkn	UTSW	7	30765051	missense	probably damaging	1.00
R1858:Dmkn	UTSW	7	30764565	missense	probably benign	0.08
R2915:Dmkn	UTSW	7	30765316	missense	unknown
R4705:Dmkn	UTSW	7	30763981	missense	probably damaging	1.00
R4806:Dmkn	UTSW	7	30771242	missense	possibly damaging	0.92
R4921:Dmkn	UTSW	7	30771233	missense	probably damaging	0.99
R5031:Dmkn	UTSW	7	30764236	missense	probably benign	0.09
R5056:Dmkn	UTSW	7	30764104	missense	probably damaging	1.00
R5577:Dmkn	UTSW	7	30764546	missense	probably damaging	1.00
R5780:Dmkn	UTSW	7	30777615	missense	probably damaging	1.00
R6233:Dmkn	UTSW	7	30779679	missense	probably damaging	0.99
R6504:Dmkn	UTSW	7	30776429	missense	possibly damaging	0.82
R7383:Dmkn	UTSW	7	30765368	missense	unknown
R7526:Dmkn	UTSW	7	30777651	missense	possibly damaging	0.90
R7667:Dmkn	UTSW	7	30777609	missense	probably damaging	1.00
R8790:Dmkn	UTSW	7	30764024	missense	probably benign	0.33
RF007:Dmkn	UTSW	7	30769704	splice site	probably null
RF022:Dmkn	UTSW	7	30767175	small insertion	probably benign
RF027:Dmkn	UTSW	7	30767194	small insertion	probably benign
RF030:Dmkn	UTSW	7	30767182	small insertion	probably benign
RF032:Dmkn	UTSW	7	30767182	small insertion	probably benign
RF038:Dmkn	UTSW	7	30767194	small insertion	probably benign
RF054:Dmkn	UTSW	7	30767188	small insertion	probably benign
RF055:Dmkn	UTSW	7	30767191	small insertion	probably benign
RF056:Dmkn	UTSW	7	30767207	small insertion	probably benign
RF057:Dmkn	UTSW	7	30767188	small insertion	probably benign
RF062:Dmkn	UTSW	7	30767175	small insertion	probably benign
X0067:Dmkn	UTSW	7	30778227	missense	possibly damaging	0.86
Z1176:Dmkn	UTSW	7	30776497	missense	possibly damaging	0.82
Z1186:Dmkn	UTSW	7	30765393	small deletion	probably benign
Z1186:Dmkn	UTSW	7	30765401	small deletion	probably benign
Z1186:Dmkn	UTSW	7	30767171	small insertion	probably benign
Z1186:Dmkn	UTSW	7	30767174	small insertion	probably benign
Z1186:Dmkn	UTSW	7	30767177	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTATTTTCAAAGCCTGGGCCAG -3'
(R):5'- ATCATTCCCTGGGTTGTTACAC -3'

Sequencing Primer
(F):5'- GGCCTGGCCTTCTATTGCTG -3'
(R):5'- CATTCCCTGGGTTGTTACACTGTAG -3'

Posted On

2019-12-04