Mutagenetix > Incidental Mutations

Incidental Mutation 'R8379:Mkln1'

646854

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 31458965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 286 (Y286*)

Ref Sequence

ENSEMBL: ENSMUSP00000026699 (fasta)

Gene Model

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

AlphaFold

O89050

PDB Structure

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

Predicted Effect

probably null
Transcript: ENSMUST00000026699
AA Change: Y286*

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: Y286*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 72,029,300	D314G	probably benign	Het
Ankrd12	T	G	17: 65,983,944	E1498A	probably benign	Het
Appl1	A	T	14: 26,925,415		probably null	Het
Auh	A	G	13: 52,909,313	*116R	probably null	Het
Ccdc7a	T	A	8: 128,964,936	H402L	probably benign	Het
Ccr4	T	C	9: 114,492,167	T277A	probably benign	Het
Col18a1	C	T	10: 77,053,238	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,555,854	I35T	probably benign	Het
Csnk1e	T	C	15: 79,420,682	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,130,025	R105G	probably benign	Het
Denr	C	A	5: 123,927,061	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,211,705	Y82*	probably null	Het
Dok3	A	G	13: 55,524,020	V246A	probably benign	Het
Endov	A	C	11: 119,491,897	K57Q	possibly damaging	Het
Fam160a2	T	C	7: 105,385,135	N430D	possibly damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbln1	G	A	15: 85,232,572	C275Y	probably damaging	Het
Foxi1	A	G	11: 34,207,530	I165T	possibly damaging	Het
Gm14496	A	T	2: 182,000,482	I649F	probably damaging	Het
Gm9268	C	T	7: 43,047,846	P776S	probably damaging	Het
Grin2b	A	G	6: 135,922,969	S305P	probably damaging	Het
Grm1	G	A	10: 10,689,135	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,974,732		probably null	Het
Klhl32	A	T	4: 24,629,194	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,970,343	R109C	possibly damaging	Het
Krt13	A	G	11: 100,118,880	L358P	probably damaging	Het
Limk2	G	A	11: 3,371,162		probably benign	Het
Mdn1	A	G	4: 32,756,453	D4720G	probably null	Het
Muc6	C	A	7: 141,644,312	E1143*	probably null	Het
Myh15	A	G	16: 49,081,188	I242M	probably benign	Het
Noc4l	T	G	5: 110,650,962	K241Q	probably damaging	Het
Nup88	C	A	11: 70,969,781	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,503,857	F374L	possibly damaging	Het
Olfr612	A	G	7: 103,538,976	I86T	possibly damaging	Het
Orm1	A	T	4: 63,346,118	D137V	probably damaging	Het
Osbpl2	T	A	2: 180,137,102	D9E	probably damaging	Het
P4ha3	G	T	7: 100,293,779	D124Y	probably damaging	Het
Poteg	T	C	8: 27,453,326	V208A	probably benign	Het
Ppfibp1	A	G	6: 147,030,345	D963G	probably damaging	Het
Prdx6	G	T	1: 161,251,090	D9E	probably benign	Het
Prrc2b	C	A	2: 32,214,654	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,833,401	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rexo5	A	T	7: 119,834,285	M422L	probably benign	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Robo2	A	T	16: 73,933,700	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,286,392	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,389,187	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,702,854	M487L	probably benign	Het
St6galnac1	C	A	11: 116,775,499		probably benign	Het
Tcp11l2	A	G	10: 84,613,605	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,524,057	C67*	probably null	Het
Tead2	G	A	7: 45,218,081	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849	N194K	probably damaging	Het
Timd2	A	G	11: 46,677,200		probably null	Het
Tmem270	T	C	5: 134,901,703	T235A	probably benign	Het
Tnrc18	T	C	5: 142,788,402	D224G		Het
Tsga10	G	T	1: 37,801,878	Q416K	probably benign	Het
Ulk1	C	A	5: 110,787,665	L911F	probably damaging	Het
Usp8	T	C	2: 126,742,571	S567P	probably benign	Het
Zdhhc3	A	C	9: 123,089,078	C129G	probably 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
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
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'- CTCAAAATACAGTTCTGAAGCAGTC -3'
(R):5'- TGCTACAACTATAGGGAAACATCAG -3'

Sequencing Primer
(F):5'- AGTCTTTGCACATACTTAGGTTTAAG -3'
(R):5'- ACATCAGAGAAGAAAATAAGCATGC -3'

Posted On

2020-09-02