Mutagenetix > Incidental Mutation

Incidental Mutation 'R3895:Mkln1'

310492

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

040806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R3895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31507667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 710 (L710H)

Ref Sequence

ENSEMBL: ENSMUSP00000026699 (fasta)

Gene Model

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

AlphaFold

O89050

PDB Structure

The crystal structure of discoidin domain from muskelin [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026699
AA Change: L710H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: L710H

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
AA Change: S164T

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: S164T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149859

Meta Mutation Damage Score

0.3347

Coding Region Coverage

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

Validation Efficiency

96% (45/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,972,525		probably benign	Het
C6	T	C	15: 4,808,470	V854A	probably benign	Het
Ccnd1	T	C	7: 144,937,894	E136G	probably damaging	Het
CK137956	A	T	4: 127,946,648	F422I	probably benign	Het
Csta1	T	C	16: 36,131,032	T7A	probably benign	Het
Dock8	A	G	19: 25,051,501	E23G	probably benign	Het
Fbxo8	A	T	8: 56,591,521	R286S	probably damaging	Het
Gm12258	T	G	11: 58,858,549	Y183*	probably null	Het
Gm4759	T	A	7: 106,423,414	H127L	probably damaging	Het
Hectd3	A	G	4: 116,996,089	D171G	probably damaging	Het
Hoxd11	C	T	2: 74,682,792	R134W	probably damaging	Het
Ighg2c	T	C	12: 113,287,658	T246A	unknown	Het
Ints6	T	C	14: 62,696,611	I816V	probably damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mast1	G	A	8: 84,935,723	P52L	probably damaging	Het
Med13l	A	G	5: 118,761,323	D2148G	probably null	Het
Med24	A	G	11: 98,706,388	S889P	probably benign	Het
Mgam	T	A	6: 40,759,120	M851K	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myt1	T	A	2: 181,820,070	S574R	probably damaging	Het
Nol11	C	A	11: 107,168,347	V644F	probably damaging	Het
Nusap1	C	A	2: 119,627,691	Q103K	possibly damaging	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcdh9	C	T	14: 93,887,538	V399M	probably damaging	Het
Plekhh1	T	C	12: 79,055,232	S359P	probably benign	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Ptpn14	C	T	1: 189,850,546	A530V	probably benign	Het
Rho	A	G	6: 115,933,902	Y136C	probably damaging	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sall2	T	C	14: 52,314,047	N564D	probably damaging	Het
Sart3	G	A	5: 113,752,427	R452*	probably null	Het
Sbf2	T	C	7: 110,447,091	I300V	probably damaging	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Slc22a5	T	C	11: 53,865,825	K553R	possibly damaging	Het
Syne1	A	G	10: 5,405,456	V375A	probably damaging	Het
Trafd1	T	C	5: 121,378,741	E28G	probably benign	Het
Tsc2	T	C	17: 24,599,812	K1292R	probably damaging	Het
Twnk	A	G	19: 45,007,451	T108A	probably damaging	Het
Unc13c	A	T	9: 73,933,523	H15Q	probably benign	Het
Vps16	T	C	2: 130,438,676	S208P	possibly damaging	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
IGL02160:Mkln1	APN	6	31492791	splice site	probably benign
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
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
R8972:Mkln1	UTSW	6	31496746	missense	probably damaging	1.00
R9403:Mkln1	UTSW	6	31432970	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31398921	missense	possibly damaging	0.74
Z1176:Mkln1	UTSW	6	31451554	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGTGCCTAGTCCACACTGGC -3'
(R):5'- CCTTCAAAACTCTGGTGCCG -3'

Sequencing Primer
(F):5'- ACTGGCTAGGTCAGTGATTCTCAAC -3'
(R):5'- AAAACTCTGGTGCCGTCCTCAG -3'

Posted On

2015-04-17