Mutagenetix > Incidental Mutation

Incidental Mutation 'R7031:Mlip'

546332

Institutional Source

Beutler Lab

Gene Symbol

Mlip

Ensembl Gene

ENSMUSG00000032355

Gene Name

muscular LMNA-interacting protein

Synonyms

2310046A06Rik, CIP, cardiac ISL1-interacting protein

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77102081-77352969 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77138553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 375 (M375L)

Ref Sequence

ENSEMBL: ENSMUSP00000139251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034910] [ENSMUST00000183686] [ENSMUST00000183955] [ENSMUST00000184322] [ENSMUST00000184415] [ENSMUST00000184848] [ENSMUST00000185039] [ENSMUST00000185144]

AlphaFold

Q5FW52

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000183686

Predicted Effect

probably benign
Transcript: ENSMUST00000183955
AA Change: M882L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: M882L

Domain	Start	End	E-Value	Type
Pfam:MLIP	111	210	7.6e-37	PFAM
low complexity region	351	363	N/A	INTRINSIC
low complexity region	375	387	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	437	455	N/A	INTRINSIC
low complexity region	528	541	N/A	INTRINSIC
low complexity region	636	651	N/A	INTRINSIC
Pfam:MLIP	654	881	8.5e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184322

SMART Domains

Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	59	149	5.3e-37	PFAM
low complexity region	274	286	N/A	INTRINSIC
low complexity region	298	310	N/A	INTRINSIC
low complexity region	342	353	N/A	INTRINSIC
low complexity region	360	378	N/A	INTRINSIC
low complexity region	451	464	N/A	INTRINSIC
low complexity region	559	574	N/A	INTRINSIC
Pfam:MLIP	577	683	5.8e-23	PFAM
Pfam:MLIP	681	775	6.5e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184415
AA Change: M375L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: M375L

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

Predicted Effect

probably benign
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 benign
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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	C	8: 45,968,103	I128V	probably benign	Het
4930432K21Rik	C	A	8: 84,166,684	P160Q	possibly damaging	Het
4931414P19Rik	T	C	14: 54,595,601	N39S	probably benign	Het
Abca13	C	T	11: 9,621,892	R4818C	probably damaging	Het
Acadsb	A	G	7: 131,443,637	I433V	probably benign	Het
Acsl3	T	A	1: 78,688,283	I142N	probably benign	Het
Api5	G	A	2: 94,425,616	T242M	probably benign	Het
Ccdc88c	T	C	12: 100,945,064	E37G	probably damaging	Het
Cntnap4	C	A	8: 112,858,242	Q1104K	probably benign	Het
Cry1	A	G	10: 85,148,662	S183P	probably benign	Het
Cuzd1	A	T	7: 131,308,851	F572I	probably benign	Het
Dcbld1	A	T	10: 52,290,889	D104V	probably damaging	Het
Dhh	C	T	15: 98,894,026	G367E	possibly damaging	Het
Dhx15	T	C	5: 52,184,589	D129G	probably benign	Het
Drd3	T	A	16: 43,762,498	V86E	probably damaging	Het
Ebf1	A	G	11: 44,621,968	T135A	possibly damaging	Het
Epha5	T	C	5: 84,142,300	I428V	probably benign	Het
Epx	T	A	11: 87,875,523		probably benign	Het
Fam83d	T	A	2: 158,785,307	N305K	probably benign	Het
Gchfr	T	A	2: 119,169,755	V39D	probably benign	Het
Ggnbp2	A	G	11: 84,860,641	L111P	probably damaging	Het
Gnal	G	A	18: 67,222,588	G340D	probably damaging	Het
Gpat2	A	G	2: 127,435,475	E745G	probably damaging	Het
Gpbp1l1	C	T	4: 116,592,848	R438C	probably damaging	Het
Hmgxb4	C	T	8: 75,029,572	Q171*	probably null	Het
Igkv4-91	G	T	6: 68,768,558	R119S	possibly damaging	Het
Ing2	T	C	8: 47,668,823	D230G	probably benign	Het
Itfg2	A	G	6: 128,416,054	V82A	probably damaging	Het
Klhl22	T	C	16: 17,777,026	S340P	probably damaging	Het
Lipm	A	T	19: 34,116,471	M263L	probably benign	Het
Ly96	A	T	1: 16,688,563	E19V	possibly damaging	Het
Mark1	C	T	1: 184,912,632	E376K	possibly damaging	Het
Mug1	A	T	6: 121,838,714	N26Y	probably benign	Het
Olfr1032	C	T	2: 86,008,595	A273V	probably benign	Het
Olfr1368	C	T	13: 21,143,000	S19N	probably benign	Het
Olfr543	T	A	7: 102,477,850	T7S	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rb1cc1	T	C	1: 6,238,466		probably null	Het
Rgs4	T	C	1: 169,743,767	T178A	probably benign	Het
Sel1l2	T	A	2: 140,340,123	K31N	possibly damaging	Het
Serpinf1	T	C	11: 75,410,196	R398G	probably damaging	Het
Sgo2b	C	T	8: 63,940,044	E120K	possibly damaging	Het
Stard9	T	C	2: 120,700,450	F2396S	possibly damaging	Het
Tcrg-V6	G	A	13: 19,190,440	E25K	probably benign	Het
Trpc3	A	C	3: 36,621,310	I893S	probably benign	Het
Trpc4ap	C	A	2: 155,692,215	R31L	unknown	Het
Vat1l	A	G	8: 114,271,432	R239G	possibly damaging	Het
Vmn1r56	T	A	7: 5,196,262	R119*	probably null	Het
Vmn2r111	T	C	17: 22,571,245	Y260C	probably damaging	Het
Zfp664	A	G	5: 124,886,006	T155A	probably benign	Het

Other mutations in Mlip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Mlip	APN	9	77239417	missense	possibly damaging	0.89
IGL01727:Mlip	APN	9	77239748	missense	probably damaging	0.99
IGL01918:Mlip	APN	9	77173999	missense	probably damaging	1.00
IGL02079:Mlip	APN	9	77239529	missense	possibly damaging	0.71
IGL02561:Mlip	APN	9	77181351	critical splice donor site	probably null
R0393:Mlip	UTSW	9	77239577	missense	probably benign	0.02
R2091:Mlip	UTSW	9	77164863	missense	possibly damaging	0.58
R3725:Mlip	UTSW	9	77190380	missense	probably damaging	1.00
R5334:Mlip	UTSW	9	77243676	missense	probably damaging	1.00
R5591:Mlip	UTSW	9	77230482	missense	probably damaging	0.96
R5592:Mlip	UTSW	9	77230482	missense	probably damaging	0.96
R5686:Mlip	UTSW	9	77347693	critical splice donor site	probably null
R5820:Mlip	UTSW	9	77230482	missense	probably damaging	0.96
R6125:Mlip	UTSW	9	77230482	missense	probably damaging	0.96
R6187:Mlip	UTSW	9	77230482	missense	probably damaging	0.96
R6803:Mlip	UTSW	9	77190381	missense	probably damaging	0.99
R6860:Mlip	UTSW	9	77102393	makesense	probably null
R7206:Mlip	UTSW	9	77164862	missense	probably damaging	0.96
R7326:Mlip	UTSW	9	77164842	missense	probably benign	0.24
R7506:Mlip	UTSW	9	77164803	missense	probably damaging	1.00
R7509:Mlip	UTSW	9	77181396	missense	probably damaging	0.99
R7563:Mlip	UTSW	9	77112997	missense	probably damaging	0.99
R7590:Mlip	UTSW	9	77230043	missense	probably benign	0.15
R7615:Mlip	UTSW	9	77230483	missense	probably damaging	1.00
R7664:Mlip	UTSW	9	77138546	missense	possibly damaging	0.90
R7755:Mlip	UTSW	9	77229556	missense	probably benign	0.30
R8110:Mlip	UTSW	9	77239579	missense	probably damaging	0.97
R8432:Mlip	UTSW	9	77190729	missense	possibly damaging	0.91
R9091:Mlip	UTSW	9	77229798	missense	probably benign	0.00
R9148:Mlip	UTSW	9	77138412	missense	possibly damaging	0.89
R9270:Mlip	UTSW	9	77229798	missense	probably benign	0.00
R9312:Mlip	UTSW	9	77239778	missense	probably damaging	0.96
R9590:Mlip	UTSW	9	77138552	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TATGTGTCCTGACTAAGAAGAGTGG -3'
(R):5'- GTTGCAAGCCTCTGTTTTGC -3'

Sequencing Primer
(F):5'- CTAAGAAGAGTGGGGGATTTCTCC -3'
(R):5'- AGCCTCTGTTTTGCTTGCAGAAAAG -3'

Posted On

2019-05-13