Incidental Mutation 'R6860:Mlip'
ID 535447
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 045025-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6860 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 77009366-77260062 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 77009675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 837 (*837Q)
Ref Sequence ENSEMBL: ENSMUSP00000139362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034910] [ENSMUST00000183686] [ENSMUST00000183955] [ENSMUST00000184322] [ENSMUST00000184415] [ENSMUST00000184848] [ENSMUST00000185039] [ENSMUST00000185144]
AlphaFold Q5FW52
Predicted Effect probably null
Transcript: ENSMUST00000034910
AA Change: *270Q
SMART Domains Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: *270Q

DomainStartEndE-ValueType
Pfam:MLIP 69 155 1.3e-24 PFAM
Pfam:MLIP 175 269 1.9e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000183686
AA Change: *60Q
Predicted Effect probably null
Transcript: ENSMUST00000183955
AA Change: *968Q
SMART Domains Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: *968Q

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000184322
AA Change: *776Q
SMART Domains Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: *776Q

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000184415
AA Change: *461Q
SMART Domains Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: *461Q

DomainStartEndE-ValueType
Pfam:MLIP 119 374 1.1e-144 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184848
AA Change: *228Q
SMART Domains Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: *228Q

DomainStartEndE-ValueType
Pfam:MLIP 67 154 3.7e-38 PFAM
Pfam:MLIP 153 227 5.4e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000185039
AA Change: *280Q
SMART Domains Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: *280Q

DomainStartEndE-ValueType
Pfam:MLIP 119 207 3.9e-38 PFAM
Pfam:MLIP 205 279 6.4e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000185144
AA Change: *837Q
SMART Domains Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: *837Q

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (86/86)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,080,412 (GRCm39) E418G probably damaging Het
9930012K11Rik C A 14: 70,395,071 (GRCm39) V28L possibly damaging Het
Abtb2 C T 2: 103,539,770 (GRCm39) R712* probably null Het
Acvr1c C T 2: 58,177,717 (GRCm39) G171S probably damaging Het
Ahctf1 G T 1: 179,580,853 (GRCm39) A1783E probably benign Het
Anapc4 A T 5: 53,006,170 (GRCm39) Q149L probably damaging Het
Ankrd27 T C 7: 35,327,952 (GRCm39) V824A possibly damaging Het
Ankrd31 G C 13: 96,968,094 (GRCm39) C577S probably benign Het
Apol7c T C 15: 77,410,274 (GRCm39) N224S probably benign Het
Arl14 A T 3: 69,130,029 (GRCm39) T59S probably benign Het
Astn1 T A 1: 158,440,042 (GRCm39) I870K probably damaging Het
B4galt1 A T 4: 40,807,796 (GRCm39) V335E probably benign Het
C2cd3 C T 7: 100,039,448 (GRCm39) P216S probably benign Het
Cchcr1 C A 17: 35,840,015 (GRCm39) N711K possibly damaging Het
Chd2 A G 7: 73,147,558 (GRCm39) F467L possibly damaging Het
Cntn6 A T 6: 104,838,907 (GRCm39) E987V possibly damaging Het
Col11a2 T A 17: 34,272,572 (GRCm39) L286H probably damaging Het
Cwc22 C T 2: 77,759,792 (GRCm39) R85Q possibly damaging Het
Cyp7a1 A C 4: 6,272,587 (GRCm39) F209V probably damaging Het
Dmtn T C 14: 70,852,322 (GRCm39) T189A possibly damaging Het
Dnhd1 C G 7: 105,327,473 (GRCm39) N777K probably benign Het
Dusp16 A T 6: 134,702,842 (GRCm39) C216* probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 T C 2: 125,170,078 (GRCm39) N1993S probably damaging Het
Fbxw22 A G 9: 109,213,030 (GRCm39) S306P probably benign Het
Ferd3l T C 12: 33,978,651 (GRCm39) S55P probably benign Het
Fpr-rs3 A G 17: 20,844,560 (GRCm39) S194P possibly damaging Het
Gm19965 G A 1: 116,748,609 (GRCm39) D97N probably benign Het
Gtpbp2 A G 17: 46,478,914 (GRCm39) probably benign Het
H3c7 G T 13: 23,728,760 (GRCm39) V36L probably benign Het
Hcn3 A C 3: 89,067,152 (GRCm39) I72S possibly damaging Het
Hk3 T A 13: 55,162,278 (GRCm39) N109Y probably damaging Het
Iqub T C 6: 24,505,737 (GRCm39) E57G possibly damaging Het
Kcnk3 T A 5: 30,779,397 (GRCm39) M149K possibly damaging Het
Kcp C T 6: 29,505,719 (GRCm39) G51D probably benign Het
Kif26a C A 12: 112,113,263 (GRCm39) A53D probably damaging Het
Lifr T A 15: 7,202,418 (GRCm39) I353K probably benign Het
Llph A T 10: 120,067,189 (GRCm39) N102I probably damaging Het
Lmo3 C A 6: 138,393,566 (GRCm39) R18L possibly damaging Het
Lrrc46 T C 11: 96,926,371 (GRCm39) E175G probably benign Het
Ltk A T 2: 119,585,075 (GRCm39) C128* probably null Het
Map1b T C 13: 99,571,275 (GRCm39) E482G probably damaging Het
Mapk8ip2 T C 15: 89,344,655 (GRCm39) V740A probably damaging Het
Miga2 T C 2: 30,261,175 (GRCm39) W157R probably benign Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myl1 T C 1: 66,984,217 (GRCm39) probably benign Het
Or1l4 T C 2: 37,092,189 (GRCm39) L312P possibly damaging Het
Or2a5 T C 6: 42,873,750 (GRCm39) Y122H probably benign Het
Or51ab3 A G 7: 103,201,075 (GRCm39) I28V probably benign Het
P3h3 A T 6: 124,834,331 (GRCm39) V107D probably benign Het
Papolb A T 5: 142,514,651 (GRCm39) S331T possibly damaging Het
Pars2 T G 4: 106,511,700 (GRCm39) V494G probably benign Het
Pcdhb3 C A 18: 37,434,763 (GRCm39) T243K probably benign Het
Pde9a T A 17: 31,689,698 (GRCm39) M415K probably damaging Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Prl A G 13: 27,248,942 (GRCm39) N197S possibly damaging Het
Prl2c1 T A 13: 28,035,724 (GRCm39) M32K probably benign Het
Prrt4 T C 6: 29,170,737 (GRCm39) S572G possibly damaging Het
Psd T A 19: 46,310,858 (GRCm39) D397V probably damaging Het
Psme2b A T 11: 48,836,307 (GRCm39) Y213* probably null Het
Ptcd3 T A 6: 71,874,094 (GRCm39) probably null Het
Ptprk T G 10: 28,210,480 (GRCm39) F167L probably damaging Het
Rfx7 T C 9: 72,524,226 (GRCm39) V472A probably damaging Het
Sanbr A G 11: 23,575,100 (GRCm39) L58P probably damaging Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Sec16a T C 2: 26,320,124 (GRCm39) Y1438C probably damaging Het
Serinc3 C T 2: 163,476,366 (GRCm39) S155N probably benign Het
Slc3a2 A T 19: 8,690,996 (GRCm39) V78E probably damaging Het
Slc44a4 T A 17: 35,140,044 (GRCm39) L23Q probably damaging Het
Slco5a1 C T 1: 12,951,420 (GRCm39) probably benign Het
Slit1 A G 19: 41,605,154 (GRCm39) M899T probably benign Het
Sorl1 A G 9: 41,933,688 (GRCm39) I1094T probably benign Het
Spag9 T A 11: 93,972,196 (GRCm39) L258Q probably benign Het
Strip1 T C 3: 107,526,252 (GRCm39) E488G possibly damaging Het
Stx18 G A 5: 38,262,235 (GRCm39) D30N possibly damaging Het
Sync T C 4: 129,181,583 (GRCm39) probably null Het
Syncrip A G 9: 88,358,849 (GRCm39) V220A probably damaging Het
Tagln2 T C 1: 172,333,476 (GRCm39) I110T probably benign Het
Taok1 T C 11: 77,432,627 (GRCm39) T729A probably benign Het
Tgfbrap1 C T 1: 43,106,759 (GRCm39) V75I possibly damaging Het
Tnfrsf21 A G 17: 43,327,957 (GRCm39) T24A probably benign Het
Tnxb T A 17: 34,932,131 (GRCm39) D2221E probably damaging Het
Triml1 A G 8: 43,583,603 (GRCm39) S333P probably damaging Het
Trp53bp1 C A 2: 121,029,594 (GRCm39) R1862L probably damaging Het
Tsc22d1 T G 14: 76,655,732 (GRCm39) I737S possibly damaging Het
U2af2 A T 7: 5,082,273 (GRCm39) K462N possibly damaging Het
Ubap2 A C 4: 41,233,631 (GRCm39) N86K probably damaging Het
Uso1 A G 5: 92,343,207 (GRCm39) K764E probably benign Het
Vmn1r192 T A 13: 22,372,122 (GRCm39) M33L probably benign Het
Other mutations in Mlip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TATAGGCTTGAACGGCAATGC -3'
(R):5'- AAGCCAGCATAACTGTTGTGAG -3'

Sequencing Primer
(F):5'- ACAGAAGGGCTATGATCCTGCTC -3'
(R):5'- GCATAACTGTTGTGAGACCAGATCTG -3'
Posted On 2018-09-12