Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01932:Mdk'

180457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mdk

Ensembl Gene

ENSMUSG00000027239

Gene Name

midkine

Synonyms

MK, Mek

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01932

Quality Score

Status

Chromosome

Chromosomal Location

91760149-91762348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91761461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 72 (N72S)

Ref Sequence

ENSEMBL: ENSMUSP00000106941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000045537] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000111309] [ENSMUST00000128152] [ENSMUST00000142231]

AlphaFold

P12025

Predicted Effect

probably benign
Transcript: ENSMUST00000028667

SMART Domains

Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
C1	96	153	2.67e-1	SMART
C1	173	231	8.18e-7	SMART
low complexity region	257	274	N/A	INTRINSIC
DAGKc	296	420	4.61e-65	SMART
DAGKa	447	604	2.75e-95	SMART
low complexity region	762	780	N/A	INTRINSIC
ANK	823	853	8.52e-4	SMART
ANK	858	887	2.18e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000028672
AA Change: N72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239
AA Change: N72S

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045537

SMART Domains

Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	42	248	5.7e-7	PFAM
Pfam:7tm_1	48	453	5.5e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069423
AA Change: N72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068413
Gene: ENSMUSG00000027239
AA Change: N72S

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090602
AA Change: N72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088090
Gene: ENSMUSG00000027239
AA Change: N72S

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099709

SMART Domains

Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	2	38	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
C1	113	170	2.67e-1	SMART
C1	190	248	8.18e-7	SMART
low complexity region	274	291	N/A	INTRINSIC
DAGKc	313	437	4.61e-65	SMART
DAGKa	464	621	2.75e-95	SMART
low complexity region	779	797	N/A	INTRINSIC
ANK	840	870	8.52e-4	SMART
ANK	875	904	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111303

SMART Domains

Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	39	58	N/A	INTRINSIC
low complexity region	66	81	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
low complexity region	118	133	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
C1	290	347	2.67e-1	SMART
C1	367	425	8.18e-7	SMART
low complexity region	451	468	N/A	INTRINSIC
DAGKc	490	614	4.61e-65	SMART
DAGKa	641	798	2.75e-95	SMART
low complexity region	956	974	N/A	INTRINSIC
ANK	1017	1047	8.52e-4	SMART
ANK	1052	1081	2.18e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111309
AA Change: N72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106941
Gene: ENSMUSG00000027239
AA Change: N72S

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148297

Predicted Effect

probably benign
Transcript: ENSMUST00000128152

SMART Domains

Protein: ENSMUSP00000118684
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	32	41	N/A	INTRINSIC
Blast:C1	62	114	9e-33	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142231

SMART Domains

Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted growth factor that belongs to the pleiotrophin/midkine heparin-binding protein family and functions in a variety of biological processes. The encoded cytokine promotes the growth, differentiation, survival and migration of several target cells including leucocytes involved in inflammation. This protein plays a role in the formation of scar tissue and intraperitoneal adhesions, and promotes neurite outgrowth and neuron survival. The protein encoded by this gene is associated with obesity and inhibition of insulin signaling in fat cells. A pseudogene of this gene is present on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal except for some delayed development of the hippocampus and behavioral abnormalities when young. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,050,565 (GRCm39)		probably benign	Het
Adipor2	G	A	6: 119,338,825 (GRCm39)	H143Y	probably damaging	Het
Ankar	A	G	1: 72,738,146 (GRCm39)	I12T	probably benign	Het
Ankdd1a	C	T	9: 65,414,893 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,373,609 (GRCm38)		probably benign	Het
Cdh22	G	A	2: 165,012,728 (GRCm39)	T119M	probably benign	Het
Col6a6	T	A	9: 105,566,825 (GRCm39)	K2223N	probably benign	Het
Dnah11	G	A	12: 118,156,005 (GRCm39)		probably benign	Het
Ezh2	T	C	6: 47,508,982 (GRCm39)	T674A	probably damaging	Het
Ffar4	A	G	19: 38,085,978 (GRCm39)	E135G	probably damaging	Het
Fsip2	G	A	2: 82,824,349 (GRCm39)	R6694Q	possibly damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4222	A	G	2: 89,978,801 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,301,326 (GRCm39)	N289Y	probably damaging	Het
Kndc1	T	C	7: 139,503,705 (GRCm39)	L1003P	probably damaging	Het
Or2at4	T	A	7: 99,384,707 (GRCm39)	I119N	probably damaging	Het
Or52n2	T	A	7: 104,542,425 (GRCm39)	I137F	probably damaging	Het
Pafah1b3	A	T	7: 24,996,516 (GRCm39)	C56S	probably benign	Het
Pdzrn4	A	G	15: 92,644,159 (GRCm39)	I189V	probably damaging	Het
Plekhh2	A	G	17: 84,884,689 (GRCm39)	N801S	probably benign	Het
Pramel7	A	T	2: 87,321,457 (GRCm39)	S193T	possibly damaging	Het
Prkag1	A	G	15: 98,712,412 (GRCm39)	I171T	probably damaging	Het
Prorp	A	G	12: 55,350,910 (GRCm39)	N73S	probably benign	Het
Rap1b	A	T	10: 117,658,765 (GRCm39)	F23I	probably damaging	Het
Scamp2	A	G	9: 57,468,399 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,714,818 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r17	A	T	5: 109,574,916 (GRCm39)	R74S	probably benign	Het
Wif1	G	T	10: 120,931,940 (GRCm39)	C288F	probably damaging	Het

Other mutations in Mdk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5774:Mdk	UTSW	2	91,761,569 (GRCm39)	missense	probably damaging	0.96
R7182:Mdk	UTSW	2	91,761,197 (GRCm39)	missense	unknown
R7873:Mdk	UTSW	2	91,761,773 (GRCm39)	missense	probably benign	0.23
R8313:Mdk	UTSW	2	91,761,178 (GRCm39)	missense	unknown

Posted On

2014-05-07