Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02160:Mkln1'

282459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31492791 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026699] [ENSMUST00000130108]

Predicted Effect

probably benign
Transcript: ENSMUST00000026699

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609

Domain	Start	End	E-Value	Type
Pfam:F5_F8_type_C	20	150	5.8e-11	PFAM
LisH	172	204	4.68e-3	SMART
CTLH	206	258	5.29e-2	SMART
Pfam:Kelch_4	270	324	5.8e-7	PFAM
Pfam:Kelch_1	279	315	2.2e-8	PFAM
Pfam:Kelch_3	282	334	7.6e-13	PFAM
Pfam:Kelch_1	459	498	2.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130108

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609

Domain	Start	End	E-Value	Type
SCOP:d1k3ia3	1	93	8e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150949

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	T	11: 29,823,593	Y621*	probably null	Het
Acat1	A	G	9: 53,591,987	V184A	probably benign	Het
Adam19	G	A	11: 46,139,695	C750Y	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabp2	T	A	19: 4,084,868		probably benign	Het
Carmil3	T	C	14: 55,493,558	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736	D213G	probably damaging	Het
Cdh23	T	C	10: 60,597,765		probably benign	Het
Cfhr2	T	A	1: 139,810,926	D299V	probably benign	Het
Clcn7	T	C	17: 25,149,030		probably benign	Het
Clspn	G	A	4: 126,581,510	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,250,698	T350A	probably benign	Het
Dmbt1	G	A	7: 131,082,688	G638E	probably damaging	Het
Ext2	A	T	2: 93,813,584	D117E	probably benign	Het
Ffar4	T	A	19: 38,097,455	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,955,650	Q147K	probably benign	Het
Gm960	T	C	19: 4,663,584	D276G	probably damaging	Het
Heatr9	T	C	11: 83,518,825	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,171,236	A94V	probably damaging	Het
Htr5b	A	T	1: 121,528,045	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,461,837	M458L	probably benign	Het
Il23r	A	T	6: 67,423,578	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,028,801	V467M	probably damaging	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Kif27	T	A	13: 58,325,998	E728D	probably damaging	Het
Lum	T	C	10: 97,568,581	S113P	probably damaging	Het
Mmp17	A	G	5: 129,595,569	D195G	possibly damaging	Het
Naa38	T	A	11: 69,396,368		probably benign	Het
Naalad2	G	A	9: 18,379,937	A191V	probably damaging	Het
Naip6	A	T	13: 100,299,425	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,421,083	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,474,417	Y153*	probably null	Het
Olfr1259	G	T	2: 89,943,805	H103Q	probably damaging	Het
Olfr1279	G	A	2: 111,306,798	V198I	probably benign	Het
Olfr1413	T	A	1: 92,573,357	L62Q	probably damaging	Het
Olfr270	A	G	4: 52,971,194	D191G	probably damaging	Het
Olfr982	A	T	9: 40,075,186	N297I	probably damaging	Het
Pik3c2a	G	A	7: 116,388,064	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,310,435	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,360,051		probably benign	Het
Prcp	G	A	7: 92,917,761	S227N	probably benign	Het
Ptprq	T	A	10: 107,653,565	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,348,440		probably benign	Het
Rcsd1	A	G	1: 165,657,579	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,273,075	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,505,771		probably null	Het
Scn2a	A	G	2: 65,730,116	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,818,575		probably benign	Het
Slc27a4	G	T	2: 29,805,962	D170Y	probably benign	Het
Tcof1	A	G	18: 60,848,743		probably benign	Het
Ticam1	T	A	17: 56,270,560	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,694,019	C1211R	probably benign	Het
Tlr2	A	T	3: 83,837,371	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,129,113		probably benign	Het
Tnxb	T	C	17: 34,714,745	S2380P	probably benign	Het
Tox	A	G	4: 6,711,537	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,140,580	F175L	possibly damaging	Het
Trim43b	A	G	9: 89,091,630	S17P	probably benign	Het
Ttc21a	G	T	9: 119,956,923	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,192,137	N261K	probably damaging	Het
Umodl1	T	C	17: 30,986,117	V562A	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vars	T	A	17: 35,001,502	I20N	probably damaging	Het
Vcan	T	C	13: 89,684,493	N3092D	probably damaging	Het
Wdr66	A	T	5: 123,256,018	E323D	unknown	Het
Zc3h6	G	T	2: 128,997,685	E139D	probably benign	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Mkln1	APN	6	31432990	missense	probably damaging	0.99
IGL01569:Mkln1	APN	6	31428128	splice site	probably benign
IGL01882:Mkln1	APN	6	31451534	missense	probably benign
IGL02009:Mkln1	APN	6	31449520	missense	probably benign	0.02
IGL02994:Mkln1	APN	6	31490443	missense	probably damaging	1.00
IGL03105:Mkln1	APN	6	31459059	nonsense	probably null
PIT4377001:Mkln1	UTSW	6	31474354	missense	probably damaging	1.00
R0376:Mkln1	UTSW	6	31478018	missense	probably benign	0.00
R0446:Mkln1	UTSW	6	31449504	missense	probably damaging	0.98
R0518:Mkln1	UTSW	6	31468132	missense	probably benign	0.00
R0600:Mkln1	UTSW	6	31432927	splice site	probably benign
R1066:Mkln1	UTSW	6	31418987	missense	possibly damaging	0.85
R1248:Mkln1	UTSW	6	31489368	missense	probably damaging	1.00
R1717:Mkln1	UTSW	6	31507644	missense	probably benign
R1921:Mkln1	UTSW	6	31428178	missense	probably benign	0.22
R1978:Mkln1	UTSW	6	31490530	nonsense	probably null
R3836:Mkln1	UTSW	6	31468336	missense	probably damaging	1.00
R3895:Mkln1	UTSW	6	31507667	missense	probably damaging	1.00
R4456:Mkln1	UTSW	6	31426772	missense	probably damaging	1.00
R4513:Mkln1	UTSW	6	31433158	intron	probably benign
R4737:Mkln1	UTSW	6	31426799	missense	probably damaging	1.00
R4819:Mkln1	UTSW	6	31474486	missense	probably benign	0.00
R4960:Mkln1	UTSW	6	31459006	missense	probably damaging	1.00
R5291:Mkln1	UTSW	6	31490481	missense	possibly damaging	0.78
R5364:Mkln1	UTSW	6	31496712	missense	probably damaging	1.00
R5739:Mkln1	UTSW	6	31496702	missense	probably benign	0.00
R5797:Mkln1	UTSW	6	31433069	missense	probably benign	0.21
R5890:Mkln1	UTSW	6	31490547	missense	probably benign	0.02
R5940:Mkln1	UTSW	6	31489372	missense	probably damaging	1.00
R6132:Mkln1	UTSW	6	31431220	missense	probably damaging	0.98
R6521:Mkln1	UTSW	6	31490544	missense	probably damaging	1.00
R7362:Mkln1	UTSW	6	31468168	missense	probably benign	0.31
R7711:Mkln1	UTSW	6	31492649	missense	probably damaging	0.99
R8094:Mkln1	UTSW	6	31492653	nonsense	probably null
R8340:Mkln1	UTSW	6	31432943	missense	possibly damaging	0.53
R8379:Mkln1	UTSW	6	31458965	nonsense	probably null
Z1176:Mkln1	UTSW	6	31398921	missense	possibly damaging	0.74
Z1176:Mkln1	UTSW	6	31451554	missense	probably damaging	1.00

Posted On

2015-04-16