Mutagenetix > Incidental Mutation

Incidental Mutation 'R1978:Mkln1'

221988

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

A130067F06Rik

MMRRC Submission

039991-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31375670-31493746 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 31467465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 60 (Q60*)

Ref Sequence

ENSEMBL: ENSMUSP00000123048 (fasta)

Gene Model

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

AlphaFold

O89050

Predicted Effect

probably null
Transcript: ENSMUST00000026699
AA Change: Q588*

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: Q588*

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: Q60*

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: Q60*

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,880 (GRCm39)	C205*	probably null	Het
4921539E11Rik	T	A	4: 103,127,961 (GRCm39)	T55S	possibly damaging	Het
Akap12	A	G	10: 4,263,855 (GRCm39)	D88G	probably benign	Het
Ankrd53	C	A	6: 83,740,185 (GRCm39)	F84L	probably damaging	Het
Apol7b	A	C	15: 77,307,539 (GRCm39)	F319V	probably damaging	Het
Bsn	A	G	9: 107,991,748 (GRCm39)	S1335P	probably benign	Het
Cep192	T	C	18: 67,936,228 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,450,329 (GRCm39)	S598P	probably benign	Het
Commd8	T	C	5: 72,322,842 (GRCm39)	H25R	probably damaging	Het
Crisp4	T	C	1: 18,198,889 (GRCm39)	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,295,342 (GRCm39)	T483S	probably benign	Het
Dbx2	C	T	15: 95,530,234 (GRCm39)	M244I	probably damaging	Het
Dnah6	T	G	6: 73,098,953 (GRCm39)	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,548,882 (GRCm39)	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,248,517 (GRCm39)	K29E	possibly damaging	Het
Gm14569	A	C	X: 35,695,781 (GRCm39)	M976R	probably benign	Het
Hck	G	T	2: 152,971,776 (GRCm39)	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,986,441 (GRCm39)	S591T	possibly damaging	Het
Hhat	A	G	1: 192,399,415 (GRCm39)	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,351,947 (GRCm39)	S333P	probably benign	Het
Hoxc6	T	C	15: 102,918,439 (GRCm39)		probably null	Het
Inpp5j	G	A	11: 3,452,150 (GRCm39)	P367S	probably damaging	Het
Lamc2	A	G	1: 153,009,343 (GRCm39)		probably null	Het
Loxhd1	T	A	18: 77,409,338 (GRCm39)	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,040,941 (GRCm39)		probably null	Het
Muc21	T	A	17: 35,933,857 (GRCm39)		probably benign	Het
Mybph	C	A	1: 134,124,734 (GRCm39)	H185N	probably benign	Het
Myo1g	T	C	11: 6,470,829 (GRCm39)	D9G	possibly damaging	Het
Myo6	A	T	9: 80,136,207 (GRCm39)	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,567,295 (GRCm39)	V412A	probably benign	Het
Neb	T	C	2: 52,177,357 (GRCm39)	K1328R	probably damaging	Het
Olfm5	T	A	7: 103,813,948 (GRCm39)	Q22L	unknown	Het
Or10ak7	A	T	4: 118,791,381 (GRCm39)	Y221*	probably null	Het
Or4d11	T	C	19: 12,013,705 (GRCm39)	T134A	probably benign	Het
Or5j1	C	T	2: 86,879,179 (GRCm39)	V134M	possibly damaging	Het
Or6b3	C	A	1: 92,439,499 (GRCm39)	G84C	probably damaging	Het
Or6p1	T	A	1: 174,258,657 (GRCm39)	I221N	probably damaging	Het
Or7a39	A	G	10: 78,715,114 (GRCm39)	Y36C	probably damaging	Het
P3h1	A	T	4: 119,105,173 (GRCm39)	Q717L	probably null	Het
Pclo	T	C	5: 14,763,809 (GRCm39)	I4094T	unknown	Het
Pfdn6	G	A	17: 34,158,051 (GRCm39)	R73W	probably benign	Het
Phyhipl	A	C	10: 70,395,591 (GRCm39)	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,157,973 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,594,498 (GRCm39)		probably null	Het
Pnldc1	A	G	17: 13,125,392 (GRCm39)	S81P	possibly damaging	Het
Pno1	T	C	11: 17,154,519 (GRCm39)	I221V	possibly damaging	Het
Porcn	A	G	X: 8,070,540 (GRCm39)	V75A	probably damaging	Het
Prkcg	T	A	7: 3,353,862 (GRCm39)	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,598,711 (GRCm39)		probably benign	Het
Resf1	T	A	6: 149,227,930 (GRCm39)	N325K	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scly	A	G	1: 91,247,891 (GRCm39)	D413G	probably damaging	Het
Scn11a	G	A	9: 119,609,861 (GRCm39)	R996*	probably null	Het
Skic3	T	C	13: 76,282,934 (GRCm39)	V752A	probably benign	Het
Slc6a13	A	T	6: 121,309,332 (GRCm39)	D281V	probably damaging	Het
Slfn5	T	C	11: 82,847,442 (GRCm39)	V109A	probably benign	Het
Smyd1	A	T	6: 71,289,703 (GRCm39)		probably null	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Stag1	T	G	9: 100,770,139 (GRCm39)	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292 (GRCm39)	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,714 (GRCm39)	I392V	probably benign	Het
Tchh	T	C	3: 93,354,106 (GRCm39)	L1182P	unknown	Het
Tle3	T	A	9: 61,301,915 (GRCm39)	V108E	probably damaging	Het
Tmem144	T	C	3: 79,732,707 (GRCm39)		probably null	Het
Tpr	T	G	1: 150,295,658 (GRCm39)	L894V	possibly damaging	Het
Trappc9	A	T	15: 72,871,874 (GRCm39)	V472E	probably damaging	Het
Trim38	T	C	13: 23,975,081 (GRCm39)	V340A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,136,494 (GRCm39)	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 57,986,111 (GRCm39)	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,358,177 (GRCm39)	I83V	probably null	Het
Xirp1	C	T	9: 119,847,657 (GRCm39)	E409K	probably benign	Het
Zc3h14	T	G	12: 98,730,181 (GRCm39)	I46R	probably damaging	Het
Zfp976	A	G	7: 42,263,265 (GRCm39)	C191R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GGCATTGGCAGTTAACTTACTG -3'
(R):5'- CACGAATTATGGACCATACAAAAGG -3'

Sequencing Primer
(F):5'- ATTGGCAGTTAACTTACTGGTTTTAG -3'
(R):5'- AGGCATCCTGGGCAATTTAC -3'

Posted On

2014-08-25