Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Dmkn'

604313

Institutional Source

Beutler Lab

Gene Symbol

Dmkn

Ensembl Gene

ENSMUSG00000060962

Gene Name

dermokine

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

RF030 (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)

GTG to GTGTTGGAAGTGGTGGAAGTGGTGGAAATG at 30767182 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: 99.5%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,425,226		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,235		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,560,913		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,560,927		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 20,943,900		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,386,848		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,141,253		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,502,722		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,500,869		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,409		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 156,045,529		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gab3	CTTTT	CT	X: 74,999,977		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,005		probably benign	Het
Gab3	TCT	TCTCCT	X: 75,000,008		probably benign	Het
Gab3	TTC	TTCGTC	X: 75,000,025		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,026		probably benign	Het
Gm35339	AGGAGGAGG	AG	15: 76,363,165		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,427,156		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,408,641		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,459,034		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647		probably benign	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,586,377		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 93,018,141		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 93,018,344		probably benign	Het
Lrmp	ATTG	ATTGAGCACGTTG	6: 145,173,788		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Mamld1	CAG	CAGTAG	X: 71,118,828		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,306,311		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,306,317		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,989		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,076,111		probably null	Het
Pdik1l	C	CCACCAA	4: 134,279,516		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,558,502		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,858,480		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,301		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,785,311		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,833,568		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,833,574		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,835,723		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,113		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Thegl	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,016,401		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,801,325		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,560,067		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	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
R9792:Dmkn	UTSW	7	30765420	missense	unknown
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
RF032:Dmkn	UTSW	7	30767182	small insertion	probably benign
RF038:Dmkn	UTSW	7	30767194	small insertion	probably benign
RF041:Dmkn	UTSW	7	30767173	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