Incidental Mutation 'R7326:Mlip'
ID568923
Institutional Source Beutler Lab
Gene Symbol Mlip
Ensembl Gene ENSMUSG00000032355
Gene Namemuscular LMNA-interacting protein
Synonyms2310046A06Rik, CIP, cardiac ISL1-interacting protein
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #R7326 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location77102081-77352969 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77164842 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 244 (R244G)
Ref Sequence ENSEMBL: ENSMUSP00000034910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034910] [ENSMUST00000183955] [ENSMUST00000184006] [ENSMUST00000184322] [ENSMUST00000184415] [ENSMUST00000184848] [ENSMUST00000185039] [ENSMUST00000185144]
Predicted Effect probably benign
Transcript: ENSMUST00000034910
AA Change: R244G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: R244G

DomainStartEndE-ValueType
Pfam:MLIP 69 155 1.3e-24 PFAM
Pfam:MLIP 175 269 1.9e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183955
AA Change: R855G

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: R855G

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 benign
Transcript: ENSMUST00000184006
AA Change: R244G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: R244G

DomainStartEndE-ValueType
Pfam:MLIP 67 154 1.5e-37 PFAM
Pfam:MLIP 175 270 1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184322
AA Change: R750G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: R750G

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 possibly damaging
Transcript: ENSMUST00000184415
AA Change: R348G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: R348G

DomainStartEndE-ValueType
Pfam:MLIP 119 374 1.1e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184848
AA Change: R202G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: R202G

DomainStartEndE-ValueType
Pfam:MLIP 67 154 3.7e-38 PFAM
Pfam:MLIP 153 227 5.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185039
AA Change: R254G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: R254G

DomainStartEndE-ValueType
Pfam:MLIP 119 207 3.9e-38 PFAM
Pfam:MLIP 205 279 6.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185144
AA Change: R811G

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: R811G

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A T 7: 139,978,545 probably null Het
Abcb4 T C 5: 8,934,226 V652A probably benign Het
Acvrl1 G T 15: 101,141,072 V417L probably damaging Het
Add1 A G 5: 34,619,371 R479G probably benign Het
Adgb A T 10: 10,400,574 L350Q possibly damaging Het
Adgrl2 A T 3: 148,846,870 S666T probably benign Het
Akap9 T A 5: 4,045,930 D2268E possibly damaging Het
Amigo3 C A 9: 108,054,066 H229Q probably benign Het
Ano6 G C 15: 95,864,244 Q31H possibly damaging Het
Ap4m1 G A 5: 138,175,019 D180N probably damaging Het
Apc2 A T 10: 80,311,740 D876V probably damaging Het
Apcdd1 T A 18: 62,952,188 Y485* probably null Het
Aqp1 G T 6: 55,336,851 D121Y probably benign Het
Bicd2 C A 13: 49,369,609 R141S probably benign Het
Brpf3 C A 17: 28,806,293 H113Q probably benign Het
Cacng2 A T 15: 78,013,320 Y96* probably null Het
Catsperg1 G T 7: 29,210,759 N52K possibly damaging Het
Celsr2 A C 3: 108,394,995 F2606V possibly damaging Het
Cerkl A T 2: 79,332,605 N516K probably benign Het
Ciita G A 16: 10,512,288 R812H probably damaging Het
Cldn3 T A 5: 134,986,983 L180Q probably damaging Het
Cnot6l T C 5: 96,077,299 I512V probably benign Het
Col5a2 A T 1: 45,442,867 D32E unknown Het
Coro7 A G 16: 4,632,048 V616A probably damaging Het
Cyp4f18 T C 8: 71,988,654 D494G probably benign Het
Ddx39 T A 8: 83,722,471 V296E probably benign Het
Dgkg A T 16: 22,548,690 H593Q probably damaging Het
Dhx16 T C 17: 35,886,160 L645P probably damaging Het
Dnah14 A G 1: 181,598,403 M171V probably benign Het
Dnhd1 G A 7: 105,720,930 V4521I probably damaging Het
Dok7 A T 5: 35,064,522 M60L probably benign Het
Donson A T 16: 91,688,711 M1K probably null Het
Dsp C T 13: 38,192,883 T1548M probably benign Het
Dyrk1a A G 16: 94,692,043 T712A probably damaging Het
Eef2 A G 10: 81,181,282 T708A probably benign Het
Epn3 G A 11: 94,493,780 T289I probably benign Het
Fam171a1 C T 2: 3,226,472 R881* probably null Het
Fam71a G A 1: 191,164,353 T31M probably benign Het
Fat2 T A 11: 55,282,304 R2528W probably damaging Het
Fgfr1 T G 8: 25,573,839 F707C probably damaging Het
Frem2 G C 3: 53,654,753 P778A probably damaging Het
Ganc A G 2: 120,430,599 Y255C probably damaging Het
Ginm1 A T 10: 7,777,850 Y65* probably null Het
Gm11559 T A 11: 99,864,881 C119S unknown Het
Gnai1 T A 5: 18,289,551 H188L Het
H6pd C T 4: 149,996,350 A13T probably benign Het
Hist1h2be T C 13: 23,585,923 K12E probably benign Het
Hoxd12 A T 2: 74,675,246 T54S possibly damaging Het
Hs3st5 T A 10: 36,833,194 L242M probably damaging Het
Il9r C A 11: 32,194,389 V139L possibly damaging Het
Immt A G 6: 71,846,369 D68G probably damaging Het
Itsn2 A G 12: 4,632,985 I304V unknown Het
Lgr4 G A 2: 109,996,629 W159* probably null Het
Lin52 G A 12: 84,457,954 G38S probably damaging Het
Lpgat1 A T 1: 191,719,453 M64L probably benign Het
Lrrc10b G T 19: 10,456,778 R180S possibly damaging Het
Lrrc29 T C 8: 105,312,898 D127G probably damaging Het
Lrrc36 A T 8: 105,449,769 L258F possibly damaging Het
Ltbp4 T A 7: 27,329,755 Q235L unknown Het
Maml2 A G 9: 13,621,607 M706V Het
Mc5r G T 18: 68,339,668 C366F probably damaging Het
Muc16 T A 9: 18,585,013 R6658S probably benign Het
Mup4 G T 4: 59,960,046 H73N possibly damaging Het
Nf1 A G 11: 79,564,943 M565V probably benign Het
Nphp1 G A 2: 127,761,217 T382I possibly damaging Het
Nrcam C T 12: 44,564,026 T503I possibly damaging Het
Nwd2 A T 5: 63,800,409 N361Y probably damaging Het
Olfr1045 A G 2: 86,198,573 Y60H probably damaging Het
Olfr1309 A T 2: 111,983,327 L249* probably null Het
Olfr308 A G 7: 86,321,574 I126T probably damaging Het
Olfr461 G T 6: 40,544,895 A28E probably damaging Het
Olfr518 A T 7: 108,880,816 H263Q probably damaging Het
Olfr836 A G 9: 19,121,669 Y235C probably benign Het
Olfr993 A T 2: 85,414,444 V145E probably damaging Het
Orc5 A G 5: 22,523,584 F308L probably benign Het
Padi1 T A 4: 140,832,404 Y54F probably benign Het
Parp1 A G 1: 180,569,100 K23E possibly damaging Het
Pate1 A T 9: 35,685,972 V79D possibly damaging Het
Pcdh18 T C 3: 49,756,860 H2R probably benign Het
Pcnx2 G A 8: 125,887,083 S543F probably damaging Het
Pcp4l1 G A 1: 171,174,465 A42V possibly damaging Het
Pnkp T A 7: 44,859,734 F169L probably damaging Het
Ppp6r3 A T 19: 3,507,325 N254K probably damaging Het
Psd A G 19: 46,324,454 L159P probably benign Het
Ptprf A G 4: 118,231,669 Y646H probably damaging Het
Rab3ip A T 10: 116,937,633 S92T probably benign Het
Rabgef1 A G 5: 130,187,351 probably benign Het
Ralgapa1 C A 12: 55,709,004 W1129L probably damaging Het
Rhpn2 T A 7: 35,385,463 L594Q probably benign Het
Rnf38 C A 4: 44,158,989 probably benign Het
Ryr2 T A 13: 11,738,194 H1747L possibly damaging Het
Sec16a A G 2: 26,439,717 L13P unknown Het
Sppl3 C A 5: 115,082,335 T102K probably damaging Het
Srgap2 A T 1: 131,291,613 Y264* probably null Het
Stxbp2 T C 8: 3,641,151 M465T Het
Sumf2 A G 5: 129,862,710 K305R probably benign Het
Susd2 T A 10: 75,642,565 Y59F probably benign Het
Taco1 T C 11: 106,072,617 V198A probably benign Het
Tas2r136 A T 6: 132,777,906 M86K possibly damaging Het
Tbc1d10c T C 19: 4,184,898 E388G possibly damaging Het
Tmem132c C T 5: 127,564,059 T1098I possibly damaging Het
Trim3 G T 7: 105,617,800 Y457* probably null Het
Ttc38 A G 15: 85,852,861 T316A probably benign Het
Ubqln4 T A 3: 88,555,910 N127K probably benign Het
Wdr91 A T 6: 34,904,626 F262Y probably damaging Het
Zdhhc6 A T 19: 55,302,755 C343S possibly damaging Het
Zfp248 A G 6: 118,430,209 C140R probably damaging Het
Zfp266 T C 9: 20,502,095 T90A probably benign Het
Zfp407 A T 18: 84,559,042 D1315E possibly damaging Het
Zfp644 T C 5: 106,638,277 S135G probably benign Het
Zscan29 A T 2: 121,160,988 I773N probably damaging Het
Zswim5 T A 4: 116,980,834 V787E possibly damaging Het
Other mutations in Mlip
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7031:Mlip UTSW 9 77138553 missense probably benign 0.03
R7206:Mlip UTSW 9 77164862 missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- TGTTCCATTATCTGGGATAGAACC -3'
(R):5'- GATCTTTACAACTTGGTTGCTACC -3'

Sequencing Primer
(F):5'- TATGCAGATGCTCACCTG -3'
(R):5'- AATCTGATTTCTAGGCCATTTTATCC -3'
Posted On2019-09-13