Incidental Mutation 'IGL01865:Limch1'
ID178491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Limch1
Ensembl Gene ENSMUSG00000037736
Gene NameLIM and calponin homology domains 1
Synonyms3732412D22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL01865
Quality Score
Status
Chromosome5
Chromosomal Location66745827-67057158 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 66974580 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 138 (R138*)
Ref Sequence ENSEMBL: ENSMUSP00000123337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038188] [ENSMUST00000101164] [ENSMUST00000117601] [ENSMUST00000118242] [ENSMUST00000127184] [ENSMUST00000132991]
Predicted Effect probably null
Transcript: ENSMUST00000038188
AA Change: R129*
SMART Domains Protein: ENSMUSP00000043163
Gene: ENSMUSG00000037736
AA Change: R129*

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 67 80 N/A INTRINSIC
low complexity region 129 140 N/A INTRINSIC
coiled coil region 192 241 N/A INTRINSIC
low complexity region 411 430 N/A INTRINSIC
coiled coil region 615 672 N/A INTRINSIC
low complexity region 679 691 N/A INTRINSIC
LIM 830 888 5.08e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000101164
AA Change: R285*
SMART Domains Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: R285*

DomainStartEndE-ValueType
CH 23 124 2.09e-13 SMART
low complexity region 197 213 N/A INTRINSIC
low complexity region 223 236 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
coiled coil region 348 397 N/A INTRINSIC
low complexity region 567 586 N/A INTRINSIC
coiled coil region 771 828 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
LIM 986 1044 5.08e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117601
AA Change: R126*
SMART Domains Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
AA Change: R126*

DomainStartEndE-ValueType
CH 23 124 1e-15 SMART
low complexity region 197 213 N/A INTRINSIC
low complexity region 223 236 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
coiled coil region 348 397 N/A INTRINSIC
low complexity region 567 586 N/A INTRINSIC
coiled coil region 704 752 N/A INTRINSIC
low complexity region 759 771 N/A INTRINSIC
LIM 910 968 2.4e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118242
AA Change: R285*
SMART Domains Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: R285*

DomainStartEndE-ValueType
CH 23 124 2.09e-13 SMART
low complexity region 197 213 N/A INTRINSIC
low complexity region 223 236 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
coiled coil region 336 385 N/A INTRINSIC
low complexity region 555 574 N/A INTRINSIC
coiled coil region 782 839 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
LIM 997 1055 5.08e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119854
AA Change: R13*
SMART Domains Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
AA Change: R13*

DomainStartEndE-ValueType
CH 23 124 2.09e-13 SMART
low complexity region 197 213 N/A INTRINSIC
low complexity region 223 236 N/A INTRINSIC
Pfam:DUF4757 250 418 5.2e-66 PFAM
low complexity region 567 586 N/A INTRINSIC
coiled coil region 771 828 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
low complexity region 989 1003 N/A INTRINSIC
LIM 1012 1070 5.08e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000127184
AA Change: R129*
SMART Domains Protein: ENSMUSP00000114681
Gene: ENSMUSG00000037736
AA Change: R129*

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 67 80 N/A INTRINSIC
low complexity region 129 140 N/A INTRINSIC
coiled coil region 180 229 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132991
AA Change: R138*
SMART Domains Protein: ENSMUSP00000123337
Gene: ENSMUSG00000037736
AA Change: R138*

DomainStartEndE-ValueType
low complexity region 50 66 N/A INTRINSIC
low complexity region 76 89 N/A INTRINSIC
Pfam:DUF4757 103 269 2.6e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202048
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 128,236,935 H162R probably damaging Het
Adamts10 T A 17: 33,553,166 M1096K probably damaging Het
Asap3 G T 4: 136,236,404 C325F probably damaging Het
Atm T C 9: 53,461,002 E2160G probably damaging Het
Col4a1 G A 8: 11,201,790 probably benign Het
Ctdp1 C T 18: 80,455,984 G248S probably damaging Het
Dcaf5 A T 12: 80,339,314 D679E probably benign Het
Efcab2 C A 1: 178,475,688 Y91* probably null Het
Eif3d G T 15: 77,967,346 T88K probably benign Het
Gapvd1 G A 2: 34,695,503 A1049V probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm18856 T A 13: 13,964,923 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm9991 A G 1: 90,678,913 noncoding transcript Het
Hapln1 T C 13: 89,601,665 Y110H probably damaging Het
Htr1f A G 16: 64,925,919 Y337H probably damaging Het
Kirrel T A 3: 87,086,424 S509C probably damaging Het
Lypla1 A C 1: 4,837,036 I108L probably damaging Het
Mc3r A G 2: 172,249,055 N66D probably damaging Het
Melk T A 4: 44,344,988 C373S probably benign Het
Myocd C A 11: 65,200,897 S73I probably benign Het
Nell2 A G 15: 95,385,081 V360A possibly damaging Het
Npas4 G A 19: 4,985,791 Q782* probably null Het
Olfr1352 A T 10: 78,984,678 D296V possibly damaging Het
Pdzd8 T C 19: 59,299,645 K1108E possibly damaging Het
Per2 A G 1: 91,421,517 I1044T probably benign Het
Pgm3 A G 9: 86,555,318 F501S possibly damaging Het
Ppp1r3c A G 19: 36,734,178 V64A probably benign Het
Ptpn6 A T 6: 124,732,465 I15N probably damaging Het
Pxk T C 14: 8,136,923 V148A possibly damaging Het
Rngtt T A 4: 33,325,157 probably benign Het
Rtkn2 T G 10: 68,035,875 S364R probably benign Het
Rtn1 A C 12: 72,219,300 L167R probably damaging Het
Sp2 G A 11: 96,961,042 T352I probably damaging Het
Tbc1d17 A G 7: 44,842,689 M459T possibly damaging Het
Tbcd T A 11: 121,590,380 M694K possibly damaging Het
Tln2 G A 9: 67,250,614 R1148* probably null Het
Trim27 T C 13: 21,192,492 V294A probably damaging Het
Tspyl5 G T 15: 33,687,712 A29E unknown Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vrk2 C T 11: 26,535,560 V143I possibly damaging Het
Zfp952 G A 17: 33,002,817 R52Q probably benign Het
Zfp979 A T 4: 147,615,317 D55E probably benign Het
Other mutations in Limch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Limch1 APN 5 66953679 missense probably damaging 0.99
IGL00644:Limch1 APN 5 67016552 missense probably benign 0.01
IGL00705:Limch1 APN 5 66993153 nonsense probably null
IGL01154:Limch1 APN 5 66745958 nonsense probably null 0.00
IGL02529:Limch1 APN 5 67002613 missense possibly damaging 0.89
IGL03171:Limch1 APN 5 67034194 missense possibly damaging 0.80
IGL03308:Limch1 APN 5 67002558 missense possibly damaging 0.92
IGL03396:Limch1 APN 5 66953673 missense probably damaging 1.00
R0067:Limch1 UTSW 5 66974622 missense probably damaging 0.99
R0067:Limch1 UTSW 5 66974622 missense probably damaging 0.99
R0114:Limch1 UTSW 5 67036084 intron probably benign
R0129:Limch1 UTSW 5 66959590 missense probably damaging 0.96
R0193:Limch1 UTSW 5 67027539 missense probably damaging 1.00
R0194:Limch1 UTSW 5 66999273 missense probably benign 0.05
R0367:Limch1 UTSW 5 66857954 critical splice donor site probably null
R0558:Limch1 UTSW 5 66969155 missense probably damaging 1.00
R0927:Limch1 UTSW 5 66997233 missense probably damaging 1.00
R1190:Limch1 UTSW 5 66969197 missense probably damaging 1.00
R1316:Limch1 UTSW 5 66999243 missense probably damaging 1.00
R1469:Limch1 UTSW 5 66881980 splice site probably benign
R1647:Limch1 UTSW 5 66999256 missense probably damaging 1.00
R1648:Limch1 UTSW 5 66999256 missense probably damaging 1.00
R1944:Limch1 UTSW 5 66999099 missense probably damaging 1.00
R2103:Limch1 UTSW 5 66998729 missense probably benign 0.05
R2126:Limch1 UTSW 5 67029760 missense probably damaging 1.00
R2248:Limch1 UTSW 5 67044399 missense probably damaging 1.00
R2415:Limch1 UTSW 5 66974634 missense probably damaging 1.00
R3762:Limch1 UTSW 5 67028840 missense probably damaging 1.00
R3797:Limch1 UTSW 5 66969079 missense probably damaging 1.00
R4659:Limch1 UTSW 5 67027557 missense probably damaging 1.00
R4773:Limch1 UTSW 5 67027507 missense probably damaging 0.99
R4876:Limch1 UTSW 5 66881927 missense possibly damaging 0.64
R5062:Limch1 UTSW 5 66969235 missense probably damaging 1.00
R5191:Limch1 UTSW 5 67027561 missense probably damaging 1.00
R5202:Limch1 UTSW 5 66993173 missense probably damaging 1.00
R5335:Limch1 UTSW 5 66881957 missense probably damaging 1.00
R5436:Limch1 UTSW 5 66974566 missense possibly damaging 0.72
R5994:Limch1 UTSW 5 66974622 missense probably damaging 1.00
R6049:Limch1 UTSW 5 67030860 missense probably benign 0.32
R6228:Limch1 UTSW 5 67016502 missense probably damaging 1.00
R6547:Limch1 UTSW 5 67028774 missense probably damaging 1.00
R6600:Limch1 UTSW 5 66745938 missense probably benign
R6888:Limch1 UTSW 5 67021926 missense probably benign 0.21
R7111:Limch1 UTSW 5 67025176 intron probably null
R7132:Limch1 UTSW 5 66953685 missense probably damaging 1.00
R7144:Limch1 UTSW 5 67017658 missense probably benign 0.10
R7302:Limch1 UTSW 5 66959599 missense probably benign 0.02
R7341:Limch1 UTSW 5 67034202 missense probably benign 0.06
R7491:Limch1 UTSW 5 67054237 missense probably damaging 0.99
X0022:Limch1 UTSW 5 67021952 missense probably benign 0.00
X0027:Limch1 UTSW 5 67002620 missense probably damaging 1.00
Posted On2014-05-07