Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Mlip'

502244

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

044327-MU

Accession Numbers

Essential gene?

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

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77009366-77260062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77137764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 381 (S381L)

Ref Sequence

ENSEMBL: ENSMUSP00000138864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034910] [ENSMUST00000183955] [ENSMUST00000184006] [ENSMUST00000184138] [ENSMUST00000184316] [ENSMUST00000184322] [ENSMUST00000185144] [ENSMUST00000184415] [ENSMUST00000184848] [ENSMUST00000185039]

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 damaging
Transcript: ENSMUST00000183955
AA Change: S381L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: S381L

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: 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

noncoding transcript
Transcript: ENSMUST00000184106

SMART Domains

Protein: ENSMUSP00000138851
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	38	138	2.4e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184138

SMART Domains

Protein: ENSMUSP00000139188
Gene: ENSMUSG00000032355

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184316

SMART Domains

Protein: ENSMUSP00000138938
Gene: ENSMUSG00000032355

Domain	Start	End	E-Value	Type
Pfam:MLIP	111	200	5.7e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184322
AA Change: S304L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: S304L

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

possibly damaging
Transcript: ENSMUST00000185144
AA Change: S337L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: S337L

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

Predicted Effect

probably benign
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 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

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,729,377 (GRCm39)	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,193,182 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,322,158 (GRCm39)	I914F	probably benign	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,581,497 (GRCm39)	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872 (GRCm39)	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tbk1	T	C	10: 121,420,148 (GRCm39)	I14V	probably benign	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (GRCm39)		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
R5686:Mlip	UTSW	9	77,254,975 (GRCm39)	critical splice donor site	probably null
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
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'- CTGTAGACCCCGTTGTCAAG -3'
(R):5'- ATGTGAGAACCTGTCCTGCG -3'

Sequencing Primer
(F):5'- GAGCCACTTGAGAGAGATTTCTTAG -3'
(R):5'- ACCTGTCCTGCGCCTGC -3'

Posted On

2018-02-27