Mutagenetix > Incidental Mutations

Incidental Mutation 'R5739:Mkln1'

444681

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

043351-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R5739 (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 31496702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 126 (S126R)

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: S654R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: S654R

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: S126R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: S126R

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

0.0592

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (82/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,520,541	V356E	possibly damaging	Het
4931429L15Rik	A	T	9: 46,309,419	S50T	probably benign	Het
A930011G23Rik	A	G	5: 99,221,430	L529P	probably damaging	Het
Acer2	A	T	4: 86,900,555	N147Y	probably damaging	Het
Adamtsl1	A	G	4: 86,232,664	E353G	probably damaging	Het
Alg6	T	C	4: 99,744,500	F60L	probably benign	Het
Ano6	A	T	15: 95,913,379	D120V	probably damaging	Het
Armc3	A	G	2: 19,253,917	D265G	possibly damaging	Het
Arntl	G	A	7: 113,285,031	R92Q	probably damaging	Het
Aurkc	A	T	7: 7,002,860	Y249F	probably benign	Het
Cacna2d2	A	G	9: 107,512,329	I274V	probably benign	Het
Camk2n2	C	A	16: 20,621,080	G39C	probably damaging	Het
Ccdc39	A	G	3: 33,826,561	L419P	possibly damaging	Het
Cdh23	T	C	10: 60,305,609	M3117V	probably damaging	Het
Celsr3	A	G	9: 108,827,158	E280G	probably benign	Het
Cherp	TGCTGGTGGTGGGG	TG	8: 72,467,815		probably benign	Het
Clcn6	A	G	4: 148,014,189	V494A	probably damaging	Het
Col19a1	C	T	1: 24,337,915	G450S	probably damaging	Het
Crb2	T	G	2: 37,793,654	V1056G	probably damaging	Het
Crtac1	A	G	19: 42,302,173	F363S	probably damaging	Het
Dnaaf2	T	C	12: 69,196,941	S449G	probably benign	Het
Dnah7b	A	T	1: 46,233,992	I2427F	probably damaging	Het
Dnah8	T	A	17: 30,719,007	D1619E	probably benign	Het
Dock3	A	T	9: 106,973,796	S836T	possibly damaging	Het
Donson	A	T	16: 91,681,229		probably null	Het
Drc3	G	A	11: 60,375,130	R215H	possibly damaging	Het
Entpd2	T	C	2: 25,399,492	S329P	possibly damaging	Het
Eya2	T	C	2: 165,761,937	S332P	probably damaging	Het
Fam83f	T	A	15: 80,692,005	Y286N	probably damaging	Het
Fat4	T	C	3: 38,983,134	V3645A	probably benign	Het
G2e3	T	C	12: 51,372,504	F668L	possibly damaging	Het
Gm14403	T	A	2: 177,509,247	C329S	probably damaging	Het
Hmcn1	G	A	1: 150,808,697	T374I	probably benign	Het
Hmcn1	A	T	1: 150,758,474		probably null	Het
Hrnr	T	C	3: 93,323,129	S225P	unknown	Het
Ifi202b	C	T	1: 173,971,352		probably null	Het
Il10ra	A	T	9: 45,256,070	D394E	possibly damaging	Het
Itga2b	A	T	11: 102,465,909	D275E	probably benign	Het
Jaml	A	T	9: 45,088,728	D108V	probably damaging	Het
Kir3dl1	G	A	X: 136,526,482	D56N	probably damaging	Het
Lrrtm1	T	C	6: 77,244,889	V443A	probably damaging	Het
Myo19	T	C	11: 84,897,624	I354T	probably damaging	Het
Nucb1	A	T	7: 45,501,660	L99Q	probably damaging	Het
Olfr1312	A	G	2: 112,042,783	F83S	probably damaging	Het
Pask	A	G	1: 93,322,056	S541P	probably benign	Het
Pdpr	A	T	8: 111,134,620	I749F	possibly damaging	Het
Phyhipl	T	C	10: 70,559,569	D269G	possibly damaging	Het
Pkdcc	A	G	17: 83,215,794	D110G	probably benign	Het
Ppox	A	G	1: 171,279,996	L115P	probably damaging	Het
Ppp1r12c	A	G	7: 4,497,282	L94P	probably damaging	Het
Ppp6r2	T	A	15: 89,259,073	M141K	probably benign	Het
Prl3d1	A	T	13: 27,100,012	H188L	probably benign	Het
Psmb3	T	A	11: 97,713,470		probably benign	Het
Pxdn	T	A	12: 29,982,334	S150T	probably benign	Het
Ripor3	T	C	2: 167,981,283	T903A	probably damaging	Het
Rnase4	T	C	14: 51,104,849	L10S	probably benign	Het
Rnf224	T	C	2: 25,236,000	T114A	probably benign	Het
Rp1l1	A	T	14: 64,032,170	E1735V	probably benign	Het
Rrp1b	T	A	17: 32,045,976	Y60N	probably damaging	Het
Rsbn1l	A	T	5: 20,905,816	V508E	probably damaging	Het
Rubcnl	T	C	14: 75,040,941		probably null	Het
Rxfp4	A	G	3: 88,651,902		probably benign	Het
Sdccag8	A	G	1: 176,826,231	T85A	probably benign	Het
Slc46a1	A	T	11: 78,467,149	I343F	possibly damaging	Het
Ssh2	A	G	11: 77,449,813	D597G	probably damaging	Het
Syne2	T	A	12: 75,997,465	V3942E	possibly damaging	Het
Timd4	T	C	11: 46,817,746	S200P	probably benign	Het
Tmc5	G	A	7: 118,666,611		probably null	Het
Tmem8	T	A	17: 26,120,451	F580I	probably damaging	Het
Trbv16	A	G	6: 41,152,079	T66A	probably benign	Het
Ttc3	A	T	16: 94,439,324	K1103*	probably null	Het
Ttc7b	A	G	12: 100,384,233	V458A	probably damaging	Het
Ubxn10	A	G	4: 138,720,823	S181P	probably benign	Het
Vmn2r11	A	G	5: 109,059,248		probably null	Het
Vmn2r26	A	T	6: 124,025,966	N112Y	probably benign	Het
Vmn2r5	T	C	3: 64,504,076	D357G	probably damaging	Het
Zc3h10	T	C	10: 128,544,801	N229S	probably benign	Het
Zfp407	T	C	18: 84,208,742	*2247W	probably null	Het
Zfyve1	C	A	12: 83,575,136	V162L	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
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
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'- CTGTACGCTCTTACTCTGGATG -3'
(R):5'- TCCCCTCAGATAGATGGTGTAATG -3'

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

Posted On

2016-11-21