Mutagenetix > Incidental Mutation

Incidental Mutation 'R7383:Dmkn'

572871

Institutional Source

Beutler Lab

Gene Symbol

Dmkn

Ensembl Gene

ENSMUSG00000060962

Gene Name

dermokine

Synonyms

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

MMRRC Submission

045465-MU

Accession Numbers

Essential gene?

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

Stock #

R7383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30463181-30480488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30464793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 255 (N255K)

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

unknown
Transcript: ENSMUST00000054427
AA Change: N255K

SMART Domains

Protein: ENSMUSP00000060362
Gene: ENSMUSG00000060962
AA Change: N255K

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: N255K

SMART Domains

Protein: ENSMUSP00000082831
Gene: ENSMUSG00000060962
AA Change: N255K

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: N255K

SMART Domains

Protein: ENSMUSP00000082834
Gene: ENSMUSG00000060962
AA Change: N255K

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: N255K

SMART Domains

Protein: ENSMUSP00000129031
Gene: ENSMUSG00000060962
AA Change: N255K

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: N49K

SMART Domains

Protein: ENSMUSP00000140196
Gene: ENSMUSG00000060962
AA Change: N49K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,818,548 (GRCm39)	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,311,653 (GRCm39)	V241G	possibly damaging	Het
BC049715	T	A	6: 136,817,453 (GRCm39)	I231N	probably damaging	Het
Bckdhb	T	G	9: 83,835,766 (GRCm39)	V90G	possibly damaging	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,452,776 (GRCm39)	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,364,148 (GRCm39)	V305E	probably damaging	Het
Clasrp	C	A	7: 19,319,198 (GRCm39)	R489L	unknown	Het
Col24a1	A	G	3: 145,004,599 (GRCm39)	I26V	probably benign	Het
Cort	C	T	4: 149,209,861 (GRCm39)	A64T	possibly damaging	Het
Dph2	A	T	4: 117,748,566 (GRCm39)	L69Q	probably damaging	Het
Fbxo11	A	G	17: 88,310,282 (GRCm39)	I432T		Het
Fgd3	T	C	13: 49,421,785 (GRCm39)	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,964,099 (GRCm39)	K111E	probably benign	Het
Gdf6	T	A	4: 9,859,537 (GRCm39)	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,600,354 (GRCm39)	L429Q	probably damaging	Het
Hk2	A	G	6: 82,726,276 (GRCm39)	F90S	probably damaging	Het
Hrnr	A	T	3: 93,239,098 (GRCm39)	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,297,917 (GRCm39)	K402T	probably benign	Het
Htr1f	T	C	16: 64,747,206 (GRCm39)	T29A	probably benign	Het
Ikbkb	C	A	8: 23,159,066 (GRCm39)	A471S	probably benign	Het
Inpp5f	A	G	7: 128,296,310 (GRCm39)	D887G	probably damaging	Het
Ipo9	A	G	1: 135,316,411 (GRCm39)	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,025,537 (GRCm39)	N118I	probably benign	Het
Kif26b	T	G	1: 178,358,275 (GRCm39)	C129G	probably damaging	Het
Mga	G	A	2: 119,790,821 (GRCm39)	A2236T	probably damaging	Het
Micu2	T	C	14: 58,154,810 (GRCm39)	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,204,577 (GRCm39)	V59D	probably damaging	Het
Nav3	A	G	10: 109,552,532 (GRCm39)	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,392,183 (GRCm39)	I190N	probably damaging	Het
Niban3	A	C	8: 72,056,470 (GRCm39)	E390A	possibly damaging	Het
Npat	T	A	9: 53,474,078 (GRCm39)	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,167,777 (GRCm39)	T1005A	probably benign	Het
Or10ag58	A	G	2: 87,265,721 (GRCm39)	S297G	possibly damaging	Het
Or14c39	A	T	7: 86,343,960 (GRCm39)	I99F	probably damaging	Het
Or1e22	A	G	11: 73,376,715 (GRCm39)	*312Q	probably null	Het
Or2b4	A	G	17: 38,116,972 (GRCm39)	K312R	probably benign	Het
Or2w3	T	C	11: 58,557,011 (GRCm39)	S209P	possibly damaging	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Or8s8	C	G	15: 98,354,578 (GRCm39)	P129R	probably damaging	Het
Pafah1b2	C	T	9: 45,880,147 (GRCm39)	G177R	probably benign	Het
Phc1	A	G	6: 122,300,317 (GRCm39)	S521P	unknown	Het
Plpp2	A	T	10: 79,366,841 (GRCm39)	L25Q	probably null	Het
Plxna4	A	G	6: 32,129,734 (GRCm39)		probably null	Het
Ppl	G	T	16: 4,915,835 (GRCm39)	P576Q	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 6,887,899 (GRCm39)	G13S	probably benign	Het
Rhot1	C	G	11: 80,114,760 (GRCm39)	P56R	probably damaging	Het
Sipa1l2	A	G	8: 126,174,385 (GRCm39)	W1298R	probably damaging	Het
Slc16a14	G	A	1: 84,890,292 (GRCm39)	H338Y	probably damaging	Het
Slc8a3	T	G	12: 81,362,579 (GRCm39)	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,003,608 (GRCm39)	Y513*	probably null	Het
Smarcd2	A	G	11: 106,155,602 (GRCm39)	C405R	probably damaging	Het
Szt2	G	A	4: 118,222,411 (GRCm39)	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841 (GRCm39)	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,844,358 (GRCm39)	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,577,892 (GRCm39)	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Togaram2	A	T	17: 72,007,512 (GRCm39)	I354F	probably damaging	Het
Uchl5	T	A	1: 143,659,753 (GRCm39)	S42R	probably benign	Het
Virma	C	A	4: 11,514,026 (GRCm39)	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,240,684 (GRCm39)	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,660,734 (GRCm39)	V382G	probably benign	Het
Wipf3	G	T	6: 54,462,263 (GRCm39)	A158S	probably benign	Het
Ylpm1	T	G	12: 85,091,242 (GRCm39)	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,524,748 (GRCm39)	C191S	probably benign	Het
Zer1	G	A	2: 30,001,253 (GRCm39)	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,305,710 (GRCm39)	V991D	probably benign	Het
Zscan4b	C	A	7: 10,637,960 (GRCm39)	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,745,672 (GRCm39)	S589T	possibly damaging	Het

Other mutations in Dmkn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
RF027:Dmkn	UTSW	7	30,466,619 (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'- AAGGCGGGATACAATGCTTTC -3'
(R):5'- AAACCTCAGTGCCAGTGTCC -3'

Sequencing Primer
(F):5'- AGCTATGCAGGGCCCTGTAAG -3'
(R):5'- CCCACCACCGGAACTGTG -3'

Posted On

2019-09-13