Incidental Mutation 'R5335:Limch1'
ID 423467
Institutional Source Beutler Lab
Gene Symbol Limch1
Ensembl Gene ENSMUSG00000037736
Gene Name LIM and calponin homology domains 1
Synonyms 3732412D22Rik
MMRRC Submission 042916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5335 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 66903232-67214502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67039300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 76 (I76F)
Ref Sequence ENSEMBL: ENSMUSP00000112732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101164] [ENSMUST00000118242] [ENSMUST00000130228]
AlphaFold Q3UH68
Predicted Effect probably damaging
Transcript: ENSMUST00000101164
AA Change: I76F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: I76F

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 damaging
Transcript: ENSMUST00000118242
AA Change: I76F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: I76F

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 possibly damaging
Transcript: ENSMUST00000130228
AA Change: I76F

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116126
Gene: ENSMUSG00000037736
AA Change: I76F

DomainStartEndE-ValueType
Pfam:CH 25 77 2.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201852
Meta Mutation Damage Score 0.2924 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik A G 19: 4,548,292 (GRCm39) W86R probably damaging Het
Ankrd6 T C 4: 32,818,651 (GRCm39) E225G probably damaging Het
Atxn10 A G 15: 85,220,785 (GRCm39) probably null Het
Bcas2 A G 3: 103,082,951 (GRCm39) I146V probably damaging Het
C2cd6 T A 1: 59,043,393 (GRCm39) noncoding transcript Het
Cachd1 G A 4: 100,825,282 (GRCm39) V579I possibly damaging Het
Col11a1 A G 3: 113,888,889 (GRCm39) T311A unknown Het
Cyp2c50 A T 19: 40,079,060 (GRCm39) L134F probably benign Het
Cyp2j11 T C 4: 96,195,589 (GRCm39) H369R probably damaging Het
Dis3 A G 14: 99,335,089 (GRCm39) V171A possibly damaging Het
Dnah12 A G 14: 26,601,695 (GRCm39) N3718D probably damaging Het
Dnah17 T C 11: 118,003,340 (GRCm39) I541V probably damaging Het
Eif3i T C 4: 129,488,979 (GRCm39) D86G probably benign Het
Epc1 C T 18: 6,490,689 (GRCm39) probably benign Het
Epc2 A G 2: 49,403,242 (GRCm39) N110S probably benign Het
Epha8 A T 4: 136,659,246 (GRCm39) L831Q probably damaging Het
Esd G T 14: 74,979,553 (GRCm39) R119I probably damaging Het
F2 T C 2: 91,465,277 (GRCm39) K96E possibly damaging Het
Fcgbp T C 7: 27,789,159 (GRCm39) V575A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gemin6 T C 17: 80,533,184 (GRCm39) V39A probably damaging Het
Glmp G T 3: 88,233,962 (GRCm39) probably benign Het
Gm10306 C A 4: 94,445,044 (GRCm39) probably benign Het
Gm4846 A T 1: 166,325,022 (GRCm39) L23* probably null Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Ifi203 T C 1: 173,754,485 (GRCm39) T749A possibly damaging Het
Kcnip2 C A 19: 45,782,685 (GRCm39) A133S probably benign Het
Mcph1 T A 8: 18,739,077 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtcl3 A T 10: 29,023,102 (GRCm39) I150L probably benign Het
Myh7 A G 14: 55,224,020 (GRCm39) probably benign Het
Odad2 A T 18: 7,294,566 (GRCm39) Y16N probably benign Het
Opcml A G 9: 28,586,621 (GRCm39) D113G possibly damaging Het
Or1j17 A T 2: 36,578,106 (GRCm39) I31F probably benign Het
Or1x2 A C 11: 50,918,161 (GRCm39) N111H probably benign Het
Or2ag18 A C 7: 106,404,941 (GRCm39) S243A probably damaging Het
Or2b6 A C 13: 21,822,949 (GRCm39) V248G probably damaging Het
Or51f1d A C 7: 102,700,742 (GRCm39) D79A probably damaging Het
Or52s19 A C 7: 103,007,729 (GRCm39) L224R probably damaging Het
Or5j1 T G 2: 86,879,509 (GRCm39) K24Q probably damaging Het
Pcdhb1 G T 18: 37,400,308 (GRCm39) C753F probably benign Het
Phip T C 9: 82,782,809 (GRCm39) S879G possibly damaging Het
Pi4k2b A G 5: 52,899,098 (GRCm39) D13G possibly damaging Het
Ptpn18 A T 1: 34,502,259 (GRCm39) I68F probably damaging Het
Rnf168 C T 16: 32,117,402 (GRCm39) T321I possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Srgap1 C T 10: 121,621,282 (GRCm39) probably benign Het
Sry A T Y: 2,663,647 (GRCm39) H4Q probably benign Het
Taf2 G A 15: 54,909,136 (GRCm39) A703V probably benign Het
Taf5l A G 8: 124,730,390 (GRCm39) F65L probably damaging Het
Tcp10b T C 17: 13,281,954 (GRCm39) probably null Het
Timm44 A T 8: 4,316,814 (GRCm39) I273N probably damaging Het
Tspan4 A G 7: 141,069,528 (GRCm39) T43A probably damaging Het
Ube2r2 T C 4: 41,190,846 (GRCm39) probably benign Het
Urgcp T C 11: 5,667,754 (GRCm39) T195A possibly damaging Het
Vmn1r197 T C 13: 22,512,361 (GRCm39) I94T probably damaging Het
Vmn2r15 A T 5: 109,434,673 (GRCm39) I677K probably damaging Het
Zfp853 T A 5: 143,274,318 (GRCm39) H434L unknown Het
Other mutations in Limch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Limch1 APN 5 67,111,022 (GRCm39) missense probably damaging 0.99
IGL00644:Limch1 APN 5 67,173,895 (GRCm39) missense probably benign 0.01
IGL00705:Limch1 APN 5 67,150,496 (GRCm39) nonsense probably null
IGL01154:Limch1 APN 5 66,903,301 (GRCm39) nonsense probably null 0.00
IGL01865:Limch1 APN 5 67,131,923 (GRCm39) nonsense probably null
IGL02529:Limch1 APN 5 67,159,956 (GRCm39) missense possibly damaging 0.89
IGL03171:Limch1 APN 5 67,191,537 (GRCm39) missense possibly damaging 0.80
IGL03308:Limch1 APN 5 67,159,901 (GRCm39) missense possibly damaging 0.92
IGL03396:Limch1 APN 5 67,111,016 (GRCm39) missense probably damaging 1.00
R0067:Limch1 UTSW 5 67,131,965 (GRCm39) missense probably damaging 0.99
R0067:Limch1 UTSW 5 67,131,965 (GRCm39) missense probably damaging 0.99
R0114:Limch1 UTSW 5 67,193,427 (GRCm39) intron probably benign
R0129:Limch1 UTSW 5 67,116,933 (GRCm39) missense probably damaging 0.96
R0193:Limch1 UTSW 5 67,184,882 (GRCm39) missense probably damaging 1.00
R0194:Limch1 UTSW 5 67,156,616 (GRCm39) missense probably benign 0.05
R0367:Limch1 UTSW 5 67,015,297 (GRCm39) critical splice donor site probably null
R0558:Limch1 UTSW 5 67,126,498 (GRCm39) missense probably damaging 1.00
R0927:Limch1 UTSW 5 67,154,576 (GRCm39) missense probably damaging 1.00
R1190:Limch1 UTSW 5 67,126,540 (GRCm39) missense probably damaging 1.00
R1316:Limch1 UTSW 5 67,156,586 (GRCm39) missense probably damaging 1.00
R1469:Limch1 UTSW 5 67,039,323 (GRCm39) splice site probably benign
R1647:Limch1 UTSW 5 67,156,599 (GRCm39) missense probably damaging 1.00
R1648:Limch1 UTSW 5 67,156,599 (GRCm39) missense probably damaging 1.00
R1944:Limch1 UTSW 5 67,156,442 (GRCm39) missense probably damaging 1.00
R2103:Limch1 UTSW 5 67,156,072 (GRCm39) missense probably benign 0.05
R2126:Limch1 UTSW 5 67,187,103 (GRCm39) missense probably damaging 1.00
R2248:Limch1 UTSW 5 67,201,742 (GRCm39) missense probably damaging 1.00
R2415:Limch1 UTSW 5 67,131,977 (GRCm39) missense probably damaging 1.00
R3762:Limch1 UTSW 5 67,186,183 (GRCm39) missense probably damaging 1.00
R3797:Limch1 UTSW 5 67,126,422 (GRCm39) missense probably damaging 1.00
R4659:Limch1 UTSW 5 67,184,900 (GRCm39) missense probably damaging 1.00
R4773:Limch1 UTSW 5 67,184,850 (GRCm39) missense probably damaging 0.99
R4876:Limch1 UTSW 5 67,039,270 (GRCm39) missense possibly damaging 0.64
R5062:Limch1 UTSW 5 67,126,578 (GRCm39) missense probably damaging 1.00
R5191:Limch1 UTSW 5 67,184,904 (GRCm39) missense probably damaging 1.00
R5202:Limch1 UTSW 5 67,150,516 (GRCm39) missense probably damaging 1.00
R5436:Limch1 UTSW 5 67,131,909 (GRCm39) missense possibly damaging 0.72
R5994:Limch1 UTSW 5 67,131,965 (GRCm39) missense probably damaging 1.00
R6049:Limch1 UTSW 5 67,188,203 (GRCm39) missense probably benign 0.32
R6228:Limch1 UTSW 5 67,173,845 (GRCm39) missense probably damaging 1.00
R6547:Limch1 UTSW 5 67,186,117 (GRCm39) missense probably damaging 1.00
R6600:Limch1 UTSW 5 66,903,281 (GRCm39) missense probably benign
R6888:Limch1 UTSW 5 67,179,269 (GRCm39) missense probably benign 0.21
R7111:Limch1 UTSW 5 67,182,519 (GRCm39) splice site probably null
R7132:Limch1 UTSW 5 67,111,028 (GRCm39) missense probably damaging 1.00
R7144:Limch1 UTSW 5 67,175,001 (GRCm39) missense probably benign 0.10
R7302:Limch1 UTSW 5 67,116,942 (GRCm39) missense probably benign 0.02
R7341:Limch1 UTSW 5 67,191,545 (GRCm39) missense probably benign 0.06
R7491:Limch1 UTSW 5 67,211,580 (GRCm39) missense probably damaging 0.99
R8079:Limch1 UTSW 5 67,204,096 (GRCm39) missense possibly damaging 0.73
R8229:Limch1 UTSW 5 67,186,138 (GRCm39) missense probably damaging 1.00
R8348:Limch1 UTSW 5 67,159,825 (GRCm39) missense probably damaging 0.98
R8395:Limch1 UTSW 5 67,126,394 (GRCm39) missense probably damaging 0.96
R8416:Limch1 UTSW 5 67,156,649 (GRCm39) missense probably benign
R8448:Limch1 UTSW 5 67,159,825 (GRCm39) missense probably damaging 0.98
R8477:Limch1 UTSW 5 67,131,908 (GRCm39) missense probably benign 0.01
R8924:Limch1 UTSW 5 67,190,475 (GRCm39) missense probably benign 0.01
R9080:Limch1 UTSW 5 67,174,992 (GRCm39) missense probably benign 0.00
R9619:Limch1 UTSW 5 67,015,284 (GRCm39) missense probably damaging 1.00
R9681:Limch1 UTSW 5 67,126,422 (GRCm39) missense probably damaging 1.00
R9715:Limch1 UTSW 5 67,156,360 (GRCm39) missense probably damaging 1.00
X0022:Limch1 UTSW 5 67,179,295 (GRCm39) missense probably benign 0.00
X0027:Limch1 UTSW 5 67,159,963 (GRCm39) missense probably damaging 1.00
Z1177:Limch1 UTSW 5 67,186,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCTTGTTACCCACACAC -3'
(R):5'- AGGTGCCATTTGGACATGG -3'

Sequencing Primer
(F):5'- TTGTTACCCACACACATAGAGGCTG -3'
(R):5'- ACATGGCTGGAATTTTTCACG -3'
Posted On 2016-08-04