Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Dmkn'

254845

Institutional Source

Beutler Lab

Gene Symbol

Dmkn

Ensembl Gene

ENSMUSG00000060962

Gene Name

dermokine

Synonyms

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

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

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

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30763756-30781063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30765316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 32 (N32S)

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

unknown
Transcript: ENSMUST00000054427
AA Change: N238S

SMART Domains

Protein: ENSMUSP00000060362
Gene: ENSMUSG00000060962
AA Change: N238S

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

unknown
Transcript: ENSMUST00000085688
AA Change: N238S

SMART Domains

Protein: ENSMUSP00000082831
Gene: ENSMUSG00000060962
AA Change: N238S

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

unknown
Transcript: ENSMUST00000085691
AA Change: N238S

SMART Domains

Protein: ENSMUSP00000082834
Gene: ENSMUSG00000060962
AA Change: N238S

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

unknown
Transcript: ENSMUST00000165887
AA Change: N238S

SMART Domains

Protein: ENSMUSP00000129031
Gene: ENSMUSG00000060962
AA Change: N238S

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

unknown
Transcript: ENSMUST00000188578
AA Change: N32S

SMART Domains

Protein: ENSMUSP00000140196
Gene: ENSMUSG00000060962
AA Change: N32S

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

0.0785

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGGCGGGATACAATGCTTTCTG -3'
(R):5'- GAAACCTCAGTGCCAGTGTC -3'

Sequencing Primer
(F):5'- ATACAATGCTTTCTGAGGGTGG -3'
(R):5'- CGGAACTGTGATCCCATTCTAAG -3'

Posted On

2014-12-29