Mutagenetix > Incidental Mutations

Incidental Mutation 'R1717:Mkln1'

191107

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

039750-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R1717 (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 31507644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 156 (I156K)

Ref Sequence

ENSEMBL: ENSMUSP00000123048 (fasta)

Gene Model

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

AlphaFold

O89050

Predicted Effect

probably benign
Transcript: ENSMUST00000026699
AA Change: H702Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: H702Q

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: I156K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: I156K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142469
AA Change: I43K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,751,664	D616G	probably damaging	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,793,779		probably null	Het
4930583I09Rik	T	C	17: 64,834,449	N53S	unknown	Het
4933434E20Rik	T	A	3: 90,056,237	S67T	probably benign	Het
9230019H11Rik	A	T	10: 3,125,050		noncoding transcript	Het
Abcc8	T	C	7: 46,115,815	I1127V	possibly damaging	Het
Abcg3	G	A	5: 104,963,555	Q349*	probably null	Het
Adam2	A	G	14: 66,068,558	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap11	C	A	14: 78,513,348	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,293,671	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,638,529	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,633,994		probably null	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,712		probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Arvcf	A	G	16: 18,401,569	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,528,797	R521W	probably damaging	Het
Casp16-ps	A	G	17: 23,552,050	I127T	possibly damaging	Het
Cd163	A	G	6: 124,329,588		probably benign	Het
Cdh8	A	T	8: 99,030,705	S754T	probably damaging	Het
Cel	A	G	2: 28,556,777	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,657,320	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,948,392	M989V	unknown	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,216,692	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 95,455,808		probably null	Het
Dact2	A	T	17: 14,197,913	W177R	probably benign	Het
Ddx10	A	G	9: 53,159,953	V680A	probably benign	Het
Eif5	T	A	12: 111,542,217	D215E	probably benign	Het
Evpl	C	T	11: 116,225,492	A817T	probably benign	Het
Fmo6	T	A	1: 162,926,252	R131*	probably null	Het
Fsd2	T	C	7: 81,535,109	T680A	probably benign	Het
Fsip2	T	C	2: 82,974,945	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,108,351		probably null	Het
Galnt9	T	G	5: 110,596,212	I304S	probably benign	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm5334	A	C	7: 68,618,977		noncoding transcript	Het
Grcc10	A	T	6: 124,740,513		probably benign	Het
Hmcn1	T	C	1: 150,859,186	T192A	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,220,635	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,671,449	C426S	probably damaging	Het
Lair1	A	G	7: 4,010,789	F153S	probably damaging	Het
Lrp1	T	C	10: 127,556,269	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,563,665	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,850,580	F295S	probably damaging	Het
Meis1	T	A	11: 19,010,608		probably benign	Het
Mmd2	T	C	5: 142,575,350		probably benign	Het
Morc1	A	G	16: 48,452,477	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,512,670		probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Olfr1111	A	T	2: 87,149,806	L285*	probably null	Het
Olfr1112	A	T	2: 87,191,903	N72I	probably benign	Het
Olfr1509	T	C	14: 52,450,839	V142A	probably benign	Het
Olfr331	T	A	11: 58,502,059	M166L	probably benign	Het
Olfr933	C	T	9: 38,976,410	L245F	probably damaging	Het
Pcdha1	T	C	18: 36,932,184	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,436,788	V329E	probably damaging	Het
Pcf11	A	T	7: 92,663,585	D193E	probably benign	Het
Pcsk1	G	C	13: 75,110,828	M240I	probably damaging	Het
Pdc	T	A	1: 150,333,141	I125N	probably damaging	Het
Plch2	C	T	4: 154,998,272	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Riok1	T	A	13: 38,052,950	I389N	probably damaging	Het
Ror1	T	A	4: 100,302,938	S50R	probably benign	Het
Samd13	T	C	3: 146,646,315	T75A	probably benign	Het
Siglec1	G	A	2: 131,073,956	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 131,084,012	N258S	probably damaging	Het
Slbp	G	A	5: 33,645,602	A126V	probably benign	Het
Slc12a4	A	T	8: 105,947,571		probably null	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Synpo2	C	A	3: 123,112,554	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,561,645	T374I	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem190	T	C	7: 4,784,133	L112P	probably damaging	Het
Tsc2	C	T	17: 24,597,068	R1715Q	probably damaging	Het
Vmn1r46	T	C	6: 89,976,829	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,793,386	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,403,104	I2799T	probably benign	Het
Zfp105	T	C	9: 122,930,631	S456P	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
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
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'- TGCTGAGCACCAAGGAGGCTAA -3'
(R):5'- CCTTCTCCATGTCTGAGCCCAGTAA -3'

Sequencing Primer
(F):5'- cacctaagaccatcagaaaacac -3'
(R):5'- GAGCCCAGTAATTCTTCAATCC -3'

Posted On

2014-05-14