Mutagenetix > Incidental Mutation

Incidental Mutation 'R5890:Mkln1'

457086

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

044091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31490547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 593 (E593D)

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 benign
Transcript: ENSMUST00000026699
AA Change: E593D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: E593D

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: E65D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: E65D

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	C	T	11: 78,273,270	Q40*	probably null	Het
Abcc9	A	G	6: 142,604,828		probably null	Het
Acsm3	C	A	7: 119,775,234	T303N	probably benign	Het
Adamts13	A	T	2: 26,986,591	R506W	probably damaging	Het
Adck5	C	T	15: 76,593,585	T166M	probably damaging	Het
Adcy8	T	A	15: 64,815,417	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,859,175	D252E	probably damaging	Het
Aldh16a1	T	A	7: 45,144,545	T636S	probably benign	Het
Ampd1	C	A	3: 103,090,075	F264L	probably damaging	Het
Arhgap17	T	C	7: 123,286,758		probably benign	Het
Babam2	A	G	5: 32,064,807		probably benign	Het
Bod1l	T	A	5: 41,820,578	E1131V	probably benign	Het
Cbs	C	T	17: 31,613,219	V553M	probably damaging	Het
Cd72	T	C	4: 43,454,475	K18R	probably damaging	Het
Cep89	A	G	7: 35,429,162	Y580C	probably damaging	Het
Chrnb1	T	A	11: 69,792,729	I264F	possibly damaging	Het
Cntf	A	G	19: 12,763,993	W168R	probably damaging	Het
Cxxc1	T	A	18: 74,221,166	D648E	possibly damaging	Het
Cyp2c68	A	T	19: 39,712,492	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,715,402	S532P	probably damaging	Het
Defb3	G	A	8: 19,295,184	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,934,221	E114A	probably benign	Het
Dnah12	T	C	14: 26,706,884	F222L	probably benign	Het
Dock9	A	C	14: 121,668,408		probably null	Het
Fras1	A	T	5: 96,645,948	H1043L	probably benign	Het
Gamt	C	A	10: 80,259,907	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,915,395	H298R	probably benign	Het
Gphb5	C	T	12: 75,415,822		probably null	Het
Greb1	A	T	12: 16,733,421	V104D	possibly damaging	Het
Hck	A	G	2: 153,129,076	D86G	probably damaging	Het
Jhy	T	A	9: 40,922,662	K321*	probably null	Het
Kcna5	C	T	6: 126,534,736	R143H	probably damaging	Het
Kif19a	G	T	11: 114,789,438	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,271,416	A376V	probably damaging	Het
Mars	A	T	10: 127,298,045	M661K	probably benign	Het
Mecp2	C	T	X: 74,035,437	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,867,651	C132S	probably damaging	Het
Mfsd4a	T	C	1: 132,038,928	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,609,362	A89E	probably benign	Het
Mlh1	G	T	9: 111,228,495	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,551,959	*339C	probably null	Het
Nphp4	T	C	4: 152,547,079	V812A	probably benign	Het
Nrcam	G	T	12: 44,576,771	V1048L	probably benign	Het
Obsl1	G	A	1: 75,493,859	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,318,167	F163I	probably damaging	Het
Pcdha6	C	A	18: 36,969,068	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,233	M271L	probably benign	Het
Phip	T	C	9: 82,906,952	T770A	probably benign	Het
Ppm1d	A	G	11: 85,326,908	T166A	probably damaging	Het
Ptprf	A	T	4: 118,224,735	I1102K	probably benign	Het
Sbsn	T	C	7: 30,753,267	V569A	possibly damaging	Het
Skida1	T	A	2: 18,046,003		probably benign	Het
Smg1	T	A	7: 118,190,586		probably benign	Het
Sorcs2	A	G	5: 36,229,191	Y168H	probably damaging	Het
Sufu	A	T	19: 46,454,733		probably null	Het
Tbc1d24	A	T	17: 24,185,526	W215R	probably damaging	Het
Tenm4	T	C	7: 96,902,860	L2502P	probably damaging	Het
Tgm4	A	T	9: 123,061,638	E10V	probably damaging	Het
Trip11	T	C	12: 101,885,972	E611G	probably damaging	Het
Ttn	C	A	2: 76,709,899	A34248S	possibly damaging	Het
Ube3a	T	A	7: 59,272,028	N49K	probably damaging	Het
Ube3c	A	G	5: 29,658,292	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,875,553	S301P	probably benign	Het
Wdfy4	T	A	14: 33,102,577	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,610,012	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,294,362	L601W	unknown	Het
Zfp236	A	G	18: 82,640,151	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,845,086	D58E	possibly 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
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'- TTGTATAGACAATATGGCTGCTGG -3'
(R):5'- GTGTCACGAATTATGGACCATAC -3'

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

Posted On

2017-02-15