Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03376:Dmkn'

420482

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

30763756-30781063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30771242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 385 (T385I)

Ref Sequence

ENSEMBL: ENSMUSP00000129031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054427] [ENSMUST00000085688] [ENSMUST00000085691] [ENSMUST00000165887] [ENSMUST00000188578]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054427
AA Change: T378I

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060362
Gene: ENSMUSG00000060962
AA Change: T378I

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

possibly damaging
Transcript: ENSMUST00000085688
AA Change: T354I

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082831
Gene: ENSMUSG00000060962
AA Change: T354I

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
AA Change: T369I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082834
Gene: ENSMUSG00000060962
AA Change: T369I

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

possibly damaging
Transcript: ENSMUST00000165887
AA Change: T385I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129031
Gene: ENSMUSG00000060962
AA Change: T385I

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

possibly damaging
Transcript: ENSMUST00000188578
AA Change: T164I

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140196
Gene: ENSMUSG00000060962
AA Change: T164I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,102,159		probably benign	Het
Ccdc122	A	G	14: 77,068,912	E41G	probably damaging	Het
Cdh3	C	T	8: 106,541,404	T357I	probably benign	Het
Cfap57	T	A	4: 118,584,720	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,034,725	T859S	possibly damaging	Het
Cmtr1	C	T	17: 29,691,411	R497C	probably benign	Het
Csmd2	T	C	4: 128,517,671	I2494T	probably benign	Het
Eml3	A	G	19: 8,933,790	D260G	probably damaging	Het
Gbf1	T	C	19: 46,262,521	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,356,255	R32H	probably damaging	Het
Hpx	C	T	7: 105,592,251		probably benign	Het
Ikzf3	T	A	11: 98,488,953	H163L	probably damaging	Het
Irak3	G	A	10: 120,146,636		probably benign	Het
Itih5	G	A	2: 10,206,773	V275I	probably benign	Het
Klc1	G	T	12: 111,775,953	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,078,232	*108W	probably null	Het
Mcph1	T	C	8: 18,596,973	S31P	probably damaging	Het
Mettl4	A	T	17: 94,735,371	S346T	probably damaging	Het
Myo3a	A	T	2: 22,600,074		probably benign	Het
Olfr703	T	A	7: 106,845,470	N286K	probably damaging	Het
Otol1	A	G	3: 70,027,512	E279G	probably damaging	Het
Pappa	T	A	4: 65,196,834	N722K	probably benign	Het
Pramel7	A	G	2: 87,489,603	S449P	probably damaging	Het
Rassf9	A	G	10: 102,545,198	N145S	probably damaging	Het
Robo2	T	C	16: 73,956,492	I158M	probably damaging	Het
Sbf1	A	G	15: 89,289,016		probably benign	Het
Slc30a8	C	T	15: 52,306,457	R27*	probably null	Het
Tmco2	T	A	4: 121,109,052	T36S	probably benign	Het
Tns4	T	C	11: 99,078,556	S360G	probably benign	Het
Vwa8	A	G	14: 79,183,134		probably null	Het
Wwc1	C	T	11: 35,852,294	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,876,551		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
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
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
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

Posted On

2016-08-02