Mutagenetix > Incidental Mutation

Incidental Mutation 'R5364:Mkln1'

422999

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

042942-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31496712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 130 (Y130H)

Ref Sequence

ENSEMBL: ENSMUSP00000123048 (fasta)

Gene Model

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

AlphaFold

O89050

Predicted Effect

probably damaging
Transcript: ENSMUST00000026699
AA Change: Y658H

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

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: Y658H

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 damaging
Transcript: ENSMUST00000130108
AA Change: Y130H

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

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: Y130H

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

Meta Mutation Damage Score

0.6908

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767 (GRCm38)	T242R	probably damaging	Het
Abcc10	G	A	17: 46,305,651 (GRCm38)	R1205C	probably benign	Het
Acer1	A	G	17: 56,982,000 (GRCm38)	F37L	probably damaging	Het
Acp7	C	A	7: 28,611,023 (GRCm38)	G463V	probably benign	Het
Actr2	A	T	11: 20,100,797 (GRCm38)		probably benign	Het
Adam15	A	T	3: 89,345,595 (GRCm38)	I272K	probably damaging	Het
Adam1b	T	A	5: 121,500,883 (GRCm38)	I700F	possibly damaging	Het
Adam33	A	G	2: 131,054,472 (GRCm38)		probably null	Het
Ano1	T	C	7: 144,637,204 (GRCm38)	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,314,361 (GRCm38)	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,849,722 (GRCm38)	R1610W	probably damaging	Het
Bbs2	A	G	8: 94,074,395 (GRCm38)	Y603H	probably benign	Het
Bbs9	G	T	9: 22,575,196 (GRCm38)		probably null	Het
Bcar3	A	C	3: 122,529,632 (GRCm38)	M779L	probably benign	Het
Bub3	A	T	7: 131,560,738 (GRCm38)	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,656,543 (GRCm38)	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,416,858 (GRCm38)	M1738L	probably benign	Het
Camk2d	G	T	3: 126,780,420 (GRCm38)	G159C	probably damaging	Het
Ccdc51	A	T	9: 109,092,120 (GRCm38)	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 180,067,182 (GRCm38)	D309G	probably benign	Het
Cdhr3	A	T	12: 33,051,008 (GRCm38)	F468I	possibly damaging	Het
Chrd	A	G	16: 20,733,148 (GRCm38)	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470 (GRCm38)		probably benign	Het
Dcdc2b	T	C	4: 129,609,170 (GRCm38)	Y253C	probably damaging	Het
Dclk1	A	C	3: 55,255,945 (GRCm38)	N153H	possibly damaging	Het
Dgkg	G	T	16: 22,600,461 (GRCm38)	S96R	probably benign	Het
Dnah9	A	G	11: 65,881,696 (GRCm38)	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,790,023 (GRCm38)	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557 (GRCm38)	Y791N	probably damaging	Het
Fam193a	C	A	5: 34,466,253 (GRCm38)	T1395N	probably benign	Het
Fbln5	A	T	12: 101,771,364 (GRCm38)	V141E	probably damaging	Het
Flii	T	C	11: 60,720,128 (GRCm38)	T492A	probably benign	Het
Fnip2	A	G	3: 79,481,168 (GRCm38)	I752T	probably benign	Het
Fpr3	T	C	17: 17,970,544 (GRCm38)	W26R	probably benign	Het
Gabrb1	A	T	5: 72,136,762 (GRCm38)	T460S	probably benign	Het
Gde1	T	C	7: 118,698,651 (GRCm38)	N4S	probably benign	Het
Ghitm	A	T	14: 37,125,217 (GRCm38)	I300N	probably damaging	Het
Ghitm	G	T	14: 37,125,199 (GRCm38)	T306K	probably benign	Het
Gm4787	G	C	12: 81,377,830 (GRCm38)	T518S	probably benign	Het
Iqcd	T	C	5: 120,600,267 (GRCm38)	I50T	probably damaging	Het
Itpripl1	G	A	2: 127,141,819 (GRCm38)	P128S	possibly damaging	Het
Jag2	C	A	12: 112,910,534 (GRCm38)	L1000F	probably damaging	Het
Klhdc4	A	T	8: 121,806,636 (GRCm38)		probably benign	Het
Klra5	A	G	6: 129,899,353 (GRCm38)	F164L	probably benign	Het
Larp1b	A	G	3: 40,977,223 (GRCm38)	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,355,653 (GRCm38)	E622D	possibly damaging	Het
Lyst	A	G	13: 13,656,854 (GRCm38)	D1621G	probably benign	Het
Mastl	T	C	2: 23,133,653 (GRCm38)	T353A	probably benign	Het
Mms22l	T	A	4: 24,496,882 (GRCm38)		probably benign	Het
Mroh7	T	A	4: 106,691,643 (GRCm38)	M1008L	probably benign	Het
Nipal1	T	C	5: 72,667,900 (GRCm38)	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,418,328 (GRCm38)	Y492*	probably null	Het
Odad1	T	A	7: 45,936,332 (GRCm38)	I105N	probably damaging	Het
Or1n1	T	C	2: 36,859,994 (GRCm38)	Y118C	probably damaging	Het
Otulinl	G	A	15: 27,659,945 (GRCm38)	Q24*	probably null	Het
Pcdhb11	T	A	18: 37,422,179 (GRCm38)	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,443,508 (GRCm38)	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,273,956 (GRCm38)	T102I	possibly damaging	Het
Pear1	A	T	3: 87,758,361 (GRCm38)	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128 (GRCm38)		probably benign	Het
Ppm1e	A	G	11: 87,237,181 (GRCm38)	W384R	probably benign	Het
Ppp1r10	C	T	17: 35,930,432 (GRCm38)	P700S	unknown	Het
Prl2c5	G	A	13: 13,183,042 (GRCm38)	R13K	probably benign	Het
Prmt3	C	A	7: 49,848,806 (GRCm38)	P487T	probably damaging	Het
Proser3	C	A	7: 30,546,148 (GRCm38)	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,151,431 (GRCm38)	T590I	probably damaging	Het
Rbsn	A	G	6: 92,193,977 (GRCm38)	V321A	probably damaging	Het
Slc40a1	C	A	1: 45,925,223 (GRCm38)	C14F	probably damaging	Het
Slc6a15	T	C	10: 103,393,508 (GRCm38)	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,573,363 (GRCm38)	I449T	probably benign	Het
Snrnp48	T	A	13: 38,210,189 (GRCm38)		probably null	Het
Tada2a	A	G	11: 84,121,147 (GRCm38)	Y23H	probably benign	Het
Tbx15	A	T	3: 99,352,192 (GRCm38)	S460C	possibly damaging	Het
Tbx21	C	T	11: 97,101,478 (GRCm38)		probably null	Het
Tmcc2	T	G	1: 132,357,796 (GRCm38)	T376P	probably damaging	Het
Tmco4	G	A	4: 139,052,504 (GRCm38)	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,864,194 (GRCm38)	Y157*	probably null	Het
Tmem63b	T	C	17: 45,664,727 (GRCm38)		probably benign	Het
Tnfrsf1a	T	C	6: 125,357,393 (GRCm38)	S92P	possibly damaging	Het
Top3b	A	T	16: 16,886,970 (GRCm38)	T397S	probably benign	Het
Trabd	C	A	15: 89,082,804 (GRCm38)		probably benign	Het
Trbv21	A	T	6: 41,202,830 (GRCm38)	I27L	possibly damaging	Het
Trim3	C	T	7: 105,619,069 (GRCm38)	V169M	probably damaging	Het
Ttn	T	C	2: 76,977,114 (GRCm38)	T92A	probably damaging	Het
Ttn	C	T	2: 76,908,516 (GRCm38)	S3893N	probably benign	Het
Uchl4	A	T	9: 64,235,539 (GRCm38)	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,985,598 (GRCm38)	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,670,903 (GRCm38)	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,257,948 (GRCm38)	C139*	probably null	Het
Zfp788	T	C	7: 41,650,127 (GRCm38)	L729P	probably damaging	Het
Zmym2	T	A	14: 56,920,645 (GRCm38)	M547K	possibly damaging	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Mkln1	APN	6	31,432,990 (GRCm38)	missense	probably damaging	0.99
IGL01569:Mkln1	APN	6	31,428,128 (GRCm38)	splice site	probably benign
IGL01882:Mkln1	APN	6	31,451,534 (GRCm38)	missense	probably benign
IGL02009:Mkln1	APN	6	31,449,520 (GRCm38)	missense	probably benign	0.02
IGL02160:Mkln1	APN	6	31,492,791 (GRCm38)	splice site	probably benign
IGL02994:Mkln1	APN	6	31,490,443 (GRCm38)	missense	probably damaging	1.00
IGL03105:Mkln1	APN	6	31,459,059 (GRCm38)	nonsense	probably null
PIT4377001:Mkln1	UTSW	6	31,474,354 (GRCm38)	missense	probably damaging	1.00
R0376:Mkln1	UTSW	6	31,478,018 (GRCm38)	missense	probably benign	0.00
R0446:Mkln1	UTSW	6	31,449,504 (GRCm38)	missense	probably damaging	0.98
R0518:Mkln1	UTSW	6	31,468,132 (GRCm38)	missense	probably benign	0.00
R0600:Mkln1	UTSW	6	31,432,927 (GRCm38)	splice site	probably benign
R1066:Mkln1	UTSW	6	31,418,987 (GRCm38)	missense	possibly damaging	0.85
R1248:Mkln1	UTSW	6	31,489,368 (GRCm38)	missense	probably damaging	1.00
R1717:Mkln1	UTSW	6	31,507,644 (GRCm38)	missense	probably benign
R1921:Mkln1	UTSW	6	31,428,178 (GRCm38)	missense	probably benign	0.22
R1978:Mkln1	UTSW	6	31,490,530 (GRCm38)	nonsense	probably null
R3836:Mkln1	UTSW	6	31,468,336 (GRCm38)	missense	probably damaging	1.00
R3895:Mkln1	UTSW	6	31,507,667 (GRCm38)	missense	probably damaging	1.00
R4456:Mkln1	UTSW	6	31,426,772 (GRCm38)	missense	probably damaging	1.00
R4513:Mkln1	UTSW	6	31,433,158 (GRCm38)	intron	probably benign
R4737:Mkln1	UTSW	6	31,426,799 (GRCm38)	missense	probably damaging	1.00
R4819:Mkln1	UTSW	6	31,474,486 (GRCm38)	missense	probably benign	0.00
R4960:Mkln1	UTSW	6	31,459,006 (GRCm38)	missense	probably damaging	1.00
R5291:Mkln1	UTSW	6	31,490,481 (GRCm38)	missense	possibly damaging	0.78
R5739:Mkln1	UTSW	6	31,496,702 (GRCm38)	missense	probably benign	0.00
R5797:Mkln1	UTSW	6	31,433,069 (GRCm38)	missense	probably benign	0.21
R5890:Mkln1	UTSW	6	31,490,547 (GRCm38)	missense	probably benign	0.02
R5940:Mkln1	UTSW	6	31,489,372 (GRCm38)	missense	probably damaging	1.00
R6132:Mkln1	UTSW	6	31,431,220 (GRCm38)	missense	probably damaging	0.98
R6521:Mkln1	UTSW	6	31,490,544 (GRCm38)	missense	probably damaging	1.00
R7362:Mkln1	UTSW	6	31,468,168 (GRCm38)	missense	probably benign	0.31
R7711:Mkln1	UTSW	6	31,492,649 (GRCm38)	missense	probably damaging	0.99
R8094:Mkln1	UTSW	6	31,492,653 (GRCm38)	nonsense	probably null
R8340:Mkln1	UTSW	6	31,432,943 (GRCm38)	missense	possibly damaging	0.53
R8379:Mkln1	UTSW	6	31,458,965 (GRCm38)	nonsense	probably null
R8972:Mkln1	UTSW	6	31,496,746 (GRCm38)	missense	probably damaging	1.00
R9403:Mkln1	UTSW	6	31,432,970 (GRCm38)	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31,451,554 (GRCm38)	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31,398,921 (GRCm38)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GTACGCTCTTACTCTGGATGC -3'
(R):5'- CCCCTCAGATAGATGGTGTAATGAG -3'

Sequencing Primer
(F):5'- GCTCTTACTCTGGATGCTCAAAAAC -3'
(R):5'- GTGCAGCAGTTTAGCACTAC -3'

Posted On

2016-08-04