Mutagenetix > Incidental Mutation

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

A130067F06Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

31375670-31493746 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31469726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123048 (fasta)

Gene Model

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

AlphaFold

O89050

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
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	probably benign	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Mkln1	APN	6	31,409,925 (GRCm39)	missense	probably damaging	0.99
IGL01569:Mkln1	APN	6	31,405,063 (GRCm39)	splice site	probably benign
IGL01882:Mkln1	APN	6	31,428,469 (GRCm39)	missense	probably benign
IGL02009:Mkln1	APN	6	31,426,455 (GRCm39)	missense	probably benign	0.02
IGL02994:Mkln1	APN	6	31,467,378 (GRCm39)	missense	probably damaging	1.00
IGL03105:Mkln1	APN	6	31,435,994 (GRCm39)	nonsense	probably null
PIT4377001:Mkln1	UTSW	6	31,451,289 (GRCm39)	missense	probably damaging	1.00
R0376:Mkln1	UTSW	6	31,454,953 (GRCm39)	missense	probably benign	0.00
R0446:Mkln1	UTSW	6	31,426,439 (GRCm39)	missense	probably damaging	0.98
R0518:Mkln1	UTSW	6	31,445,067 (GRCm39)	missense	probably benign	0.00
R0600:Mkln1	UTSW	6	31,409,862 (GRCm39)	splice site	probably benign
R1066:Mkln1	UTSW	6	31,395,922 (GRCm39)	missense	possibly damaging	0.85
R1248:Mkln1	UTSW	6	31,466,303 (GRCm39)	missense	probably damaging	1.00
R1717:Mkln1	UTSW	6	31,484,579 (GRCm39)	missense	probably benign
R1921:Mkln1	UTSW	6	31,405,113 (GRCm39)	missense	probably benign	0.22
R1978:Mkln1	UTSW	6	31,467,465 (GRCm39)	nonsense	probably null
R3836:Mkln1	UTSW	6	31,445,271 (GRCm39)	missense	probably damaging	1.00
R3895:Mkln1	UTSW	6	31,484,602 (GRCm39)	missense	probably damaging	1.00
R4456:Mkln1	UTSW	6	31,403,707 (GRCm39)	missense	probably damaging	1.00
R4513:Mkln1	UTSW	6	31,410,093 (GRCm39)	intron	probably benign
R4737:Mkln1	UTSW	6	31,403,734 (GRCm39)	missense	probably damaging	1.00
R4819:Mkln1	UTSW	6	31,451,421 (GRCm39)	missense	probably benign	0.00
R4960:Mkln1	UTSW	6	31,435,941 (GRCm39)	missense	probably damaging	1.00
R5291:Mkln1	UTSW	6	31,467,416 (GRCm39)	missense	possibly damaging	0.78
R5364:Mkln1	UTSW	6	31,473,647 (GRCm39)	missense	probably damaging	1.00
R5739:Mkln1	UTSW	6	31,473,637 (GRCm39)	missense	probably benign	0.00
R5797:Mkln1	UTSW	6	31,410,004 (GRCm39)	missense	probably benign	0.21
R5890:Mkln1	UTSW	6	31,467,482 (GRCm39)	missense	probably benign	0.02
R5940:Mkln1	UTSW	6	31,466,307 (GRCm39)	missense	probably damaging	1.00
R6132:Mkln1	UTSW	6	31,408,155 (GRCm39)	missense	probably damaging	0.98
R6521:Mkln1	UTSW	6	31,467,479 (GRCm39)	missense	probably damaging	1.00
R7362:Mkln1	UTSW	6	31,445,103 (GRCm39)	missense	probably benign	0.31
R7711:Mkln1	UTSW	6	31,469,584 (GRCm39)	missense	probably damaging	0.99
R8094:Mkln1	UTSW	6	31,469,588 (GRCm39)	nonsense	probably null
R8340:Mkln1	UTSW	6	31,409,878 (GRCm39)	missense	possibly damaging	0.53
R8379:Mkln1	UTSW	6	31,435,900 (GRCm39)	nonsense	probably null
R8972:Mkln1	UTSW	6	31,473,681 (GRCm39)	missense	probably damaging	1.00
R9403:Mkln1	UTSW	6	31,409,905 (GRCm39)	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31,428,489 (GRCm39)	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31,375,856 (GRCm39)	missense	possibly damaging	0.74

Posted On

2015-04-16