Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Mlip'

443369

Institutional Source

Beutler Lab

Gene Symbol

Mlip

Ensembl Gene

ENSMUSG00000032355

Gene Name

muscular LMNA-interacting protein

Synonyms

CIP, 2310046A06Rik, cardiac ISL1-interacting protein

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77009366-77260062 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 77254975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034910] [ENSMUST00000184006] [ENSMUST00000184138] [ENSMUST00000184415] [ENSMUST00000184848] [ENSMUST00000185039] [ENSMUST00000185144]

AlphaFold

Q5FW52

Predicted Effect

probably null
Transcript: ENSMUST00000034910

SMART Domains

Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	69	155	1.3e-24	PFAM
Pfam:MLIP	175	269	1.9e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183350

Predicted Effect

probably null
Transcript: ENSMUST00000184006

SMART Domains

Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	67	154	1.5e-37	PFAM
Pfam:MLIP	175	270	1e-53	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000184138

SMART Domains

Protein: ENSMUSP00000139188
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	67	157	3e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000184415

SMART Domains

Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	119	374	1.1e-144	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000184848

SMART Domains

Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	67	154	3.7e-38	PFAM
Pfam:MLIP	153	227	5.4e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000185039

SMART Domains

Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	119	207	3.9e-38	PFAM
Pfam:MLIP	205	279	6.4e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000185144

SMART Domains

Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	67	166	6.3e-37	PFAM
low complexity region	307	319	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC
low complexity region	375	386	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	484	497	N/A	INTRINSIC
low complexity region	592	607	N/A	INTRINSIC
Pfam:MLIP	609	836	4.7e-102	PFAM

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display increased cardiac sensitivity to induced stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het

Other mutations in Mlip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Mlip	APN	9	77,146,699 (GRCm39)	missense	possibly damaging	0.89
IGL01727:Mlip	APN	9	77,147,030 (GRCm39)	missense	probably damaging	0.99
IGL01918:Mlip	APN	9	77,081,281 (GRCm39)	missense	probably damaging	1.00
IGL02079:Mlip	APN	9	77,146,811 (GRCm39)	missense	possibly damaging	0.71
IGL02561:Mlip	APN	9	77,088,633 (GRCm39)	critical splice donor site	probably null
R0393:Mlip	UTSW	9	77,146,859 (GRCm39)	missense	probably benign	0.02
R2091:Mlip	UTSW	9	77,072,145 (GRCm39)	missense	possibly damaging	0.58
R3725:Mlip	UTSW	9	77,097,662 (GRCm39)	missense	probably damaging	1.00
R5334:Mlip	UTSW	9	77,150,958 (GRCm39)	missense	probably damaging	1.00
R5591:Mlip	UTSW	9	77,137,764 (GRCm39)	missense	probably damaging	0.96
R5592:Mlip	UTSW	9	77,137,764 (GRCm39)	missense	probably damaging	0.96
R5820:Mlip	UTSW	9	77,137,764 (GRCm39)	missense	probably damaging	0.96
R6125:Mlip	UTSW	9	77,137,764 (GRCm39)	missense	probably damaging	0.96
R6187:Mlip	UTSW	9	77,137,764 (GRCm39)	missense	probably damaging	0.96
R6803:Mlip	UTSW	9	77,097,663 (GRCm39)	missense	probably damaging	0.99
R6860:Mlip	UTSW	9	77,009,675 (GRCm39)	makesense	probably null
R7031:Mlip	UTSW	9	77,045,835 (GRCm39)	missense	probably benign	0.03
R7206:Mlip	UTSW	9	77,072,144 (GRCm39)	missense	probably damaging	0.96
R7326:Mlip	UTSW	9	77,072,124 (GRCm39)	missense	probably benign	0.24
R7506:Mlip	UTSW	9	77,072,085 (GRCm39)	missense	probably damaging	1.00
R7509:Mlip	UTSW	9	77,088,678 (GRCm39)	missense	probably damaging	0.99
R7563:Mlip	UTSW	9	77,020,279 (GRCm39)	missense	probably damaging	0.99
R7590:Mlip	UTSW	9	77,137,325 (GRCm39)	missense	probably benign	0.15
R7615:Mlip	UTSW	9	77,137,765 (GRCm39)	missense	probably damaging	1.00
R7664:Mlip	UTSW	9	77,045,828 (GRCm39)	missense	possibly damaging	0.90
R7755:Mlip	UTSW	9	77,136,838 (GRCm39)	missense	probably benign	0.30
R8110:Mlip	UTSW	9	77,146,861 (GRCm39)	missense	probably damaging	0.97
R8432:Mlip	UTSW	9	77,098,011 (GRCm39)	missense	possibly damaging	0.91
R9091:Mlip	UTSW	9	77,137,080 (GRCm39)	missense	probably benign	0.00
R9148:Mlip	UTSW	9	77,045,694 (GRCm39)	missense	possibly damaging	0.89
R9270:Mlip	UTSW	9	77,137,080 (GRCm39)	missense	probably benign	0.00
R9312:Mlip	UTSW	9	77,147,060 (GRCm39)	missense	probably damaging	0.96
R9590:Mlip	UTSW	9	77,045,834 (GRCm39)	missense	probably benign	0.03
R9609:Mlip	UTSW	9	77,045,797 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TTGCCCACTTCCCAGCAATG -3'
(R):5'- GTCCTAGGCTCTTACAACGTG -3'

Sequencing Primer
(F):5'- CTTCCCAGCAATGACATTTTTGTAG -3'
(R):5'- GCTCTTACAACGTGGAATGC -3'

Posted On

2016-11-09