Mutagenetix > Incidental Mutation

Incidental Mutation 'R8094:Mkln1'

630067

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

A130067F06Rik

MMRRC Submission

067526-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R8094 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31375670-31493746 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 31469588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 599 (Y599*)

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 null
Transcript: ENSMUST00000026699
AA Change: Y599*

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: Y599*

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 null
Transcript: ENSMUST00000130108
AA Change: Y71*

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: Y71*

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.0%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	T	A	8: 12,329,824 (GRCm39)	L93H	unknown	Het
A2ml1	A	G	6: 128,549,045 (GRCm39)	Y246H	probably damaging	Het
Akap11	C	A	14: 78,750,413 (GRCm39)	C658F		Het
Arid2	T	G	15: 96,266,592 (GRCm39)	S547A	possibly damaging	Het
Atf1	C	A	15: 100,143,170 (GRCm39)	D46E	probably damaging	Het
Brca2	T	A	5: 150,459,634 (GRCm39)	F303Y	possibly damaging	Het
Btbd18	T	A	2: 84,498,260 (GRCm39)	S633T	possibly damaging	Het
Btg4	T	G	9: 51,030,445 (GRCm39)	F182V	probably benign	Het
Cacna1e	G	A	1: 154,437,516 (GRCm39)	S340F	probably damaging	Het
Camta2	A	G	11: 70,576,903 (GRCm39)	W41R	probably damaging	Het
Cbl	A	T	9: 44,074,696 (GRCm39)	D455E	probably benign	Het
Ccdc162	A	T	10: 41,488,864 (GRCm39)	D1208E	probably benign	Het
Cd177	A	T	7: 24,443,842 (GRCm39)	M752K	probably damaging	Het
Cep290	A	T	10: 100,380,793 (GRCm39)	H100L	possibly damaging	Het
Chrnb2	T	A	3: 89,668,698 (GRCm39)	I206F	probably damaging	Het
Cyp2c40	A	G	19: 39,791,009 (GRCm39)	L274S	probably benign	Het
Cyp2c40	T	A	19: 39,791,015 (GRCm39)	Y272F	probably benign	Het
Cyp2d22	C	A	15: 82,258,556 (GRCm39)	A102S	probably benign	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dchs2	T	C	3: 83,262,929 (GRCm39)	F3066L	probably benign	Het
Disp1	C	A	1: 182,869,192 (GRCm39)	R1076L	probably damaging	Het
Dkk2	C	T	3: 131,791,801 (GRCm39)	A3V	probably benign	Het
Dnah7b	T	C	1: 46,165,964 (GRCm39)	F543S	probably benign	Het
Dpt	A	T	1: 164,624,481 (GRCm39)	S61C	probably damaging	Het
Drg2	A	T	11: 60,353,096 (GRCm39)	Y243F	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Dst	T	G	1: 34,228,040 (GRCm39)	L1878V	possibly damaging	Het
F5	A	G	1: 164,036,509 (GRCm39)	Y1890C	probably benign	Het
Fat1	T	C	8: 45,405,739 (GRCm39)	V830A	probably damaging	Het
Fat2	C	T	11: 55,186,965 (GRCm39)	D1294N	probably benign	Het
Fbxo15	A	G	18: 84,983,618 (GRCm39)	Y322C	probably benign	Het
Fcsk	A	G	8: 111,622,604 (GRCm39)	F108S	probably damaging	Het
Fhit	A	T	14: 10,751,666 (GRCm38)	N7K	unknown	Het
Gabrb2	A	G	11: 42,488,370 (GRCm39)	I279V	probably damaging	Het
Galk2	T	C	2: 125,773,189 (GRCm39)	F207S	probably damaging	Het
Gtpbp3	C	T	8: 71,941,480 (GRCm39)	L17F	possibly damaging	Het
Gucy2c	T	A	6: 136,714,446 (GRCm39)	D460V	probably benign	Het
Herc1	G	A	9: 66,400,462 (GRCm39)	V4329I	probably damaging	Het
Iqcn	T	C	8: 71,162,067 (GRCm39)	V420A	probably benign	Het
Kirrel3	G	A	9: 34,946,460 (GRCm39)	V740M	probably damaging	Het
Macf1	C	A	4: 123,263,660 (GRCm39)	V6956L	probably damaging	Het
Mill1	C	T	7: 17,989,835 (GRCm39)	A39V	probably benign	Het
Mrpl14	T	A	17: 46,009,039 (GRCm39)	L46Q	possibly damaging	Het
Myom2	G	T	8: 15,119,418 (GRCm39)	R103L	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndst2	A	T	14: 20,778,232 (GRCm39)	V449D	probably damaging	Het
Nell1	T	A	7: 49,770,335 (GRCm39)	H131Q	probably benign	Het
Nos3	G	C	5: 24,572,218 (GRCm39)	R97P	probably benign	Het
Npc1	A	T	18: 12,327,297 (GRCm39)	F1099L	probably benign	Het
Nxpe5	T	A	5: 138,249,802 (GRCm39)	W531R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1j1	A	T	2: 36,702,330 (GRCm39)	L258H	probably damaging	Het
Or4c110	T	C	2: 88,832,712 (GRCm39)		probably benign	Het
Or5b98	A	T	19: 12,931,366 (GRCm39)	T138S	probably benign	Het
Or6c210	A	G	10: 129,495,933 (GRCm39)	D86G	probably damaging	Het
Osmr	T	C	15: 6,845,102 (GRCm39)	N889S	possibly damaging	Het
Oxct2b	A	G	4: 123,010,301 (GRCm39)	I74V	possibly damaging	Het
Pakap	A	G	4: 57,886,319 (GRCm39)	T859A	possibly damaging	Het
Phldb3	C	A	7: 24,326,134 (GRCm39)	A572D	probably damaging	Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Ptprs	T	C	17: 56,735,947 (GRCm39)	E674G	probably benign	Het
Ptpru	G	A	4: 131,520,903 (GRCm39)	T801I	possibly damaging	Het
Ralgapa1	T	A	12: 55,829,631 (GRCm39)	D200V	probably damaging	Het
Rb1cc1	A	T	1: 6,333,448 (GRCm39)	R1429*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnpep	A	T	1: 135,211,514 (GRCm39)	L78Q	probably damaging	Het
Rtn2	A	T	7: 19,027,791 (GRCm39)	I394F	probably damaging	Het
Satb2	A	T	1: 56,870,623 (GRCm39)	V572D	possibly damaging	Het
Sds	T	C	5: 120,617,001 (GRCm39)		probably benign	Het
Serpina10	TTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCC	12: 103,595,032 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,056,300 (GRCm39)	I828T	possibly damaging	Het
Slc25a33	T	A	4: 149,840,609 (GRCm39)	K79N	probably benign	Het
Slc25a51	A	C	4: 45,399,783 (GRCm39)	F136V	probably benign	Het
Slfn14	T	A	11: 83,174,119 (GRCm39)	K291*	probably null	Het
Sp100	A	G	1: 85,624,819 (GRCm39)	K403E	possibly damaging	Het
Spaca1	C	T	4: 34,049,837 (GRCm39)	E54K	possibly damaging	Het
Sympk	T	G	7: 18,787,373 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,067,031 (GRCm39)	V7078D	probably damaging	Het
Tas2r121	T	A	6: 132,677,772 (GRCm39)	I67L	probably benign	Het
Tha1	T	C	11: 117,759,323 (GRCm39)	K389E	probably benign	Het
Thbs2	T	A	17: 14,900,584 (GRCm39)	Q541L	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,679,218 (GRCm39)		probably null	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trcg1	C	A	9: 57,149,564 (GRCm39)	Q379K	probably benign	Het
Ubr4	T	C	4: 139,168,007 (GRCm39)	S1507P	probably damaging	Het
Uckl1	A	G	2: 181,215,049 (GRCm39)	I268T	probably damaging	Het
Uvrag	T	C	7: 98,641,174 (GRCm39)	K289E	possibly damaging	Het
Vmn2r104	C	A	17: 20,250,483 (GRCm39)	C596F	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,626 (GRCm39)	F293I	probably damaging	Het
Vps13b	T	A	15: 35,669,052 (GRCm39)		probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zscan4f	T	A	7: 11,135,154 (GRCm39)	C187S	possibly damaging	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
IGL02160:Mkln1	APN	6	31,469,726 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAACACTTAATTAACTGGATAGCCC -3'
(R):5'- TAGGTCAAACCAAGAGTAGCTAGC -3'

Sequencing Primer
(F):5'- GGAAACCTTTGGTAAGAATGTATCAG -3'
(R):5'- TTCAGACAGGGTCTCACATGTAGC -3'

Posted On

2020-06-30