Incidental Mutation 'IGL01767:Lrrcc1'
ID 153341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrcc1
Ensembl Gene ENSMUSG00000027550
Gene Name leucine rich repeat and coiled-coil domain containing 1
Synonyms 1200008A14Rik, 4932441F23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01767
Quality Score
Status
Chromosome 3
Chromosomal Location 14598848-14637718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14612332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 378 (Y378N)
Ref Sequence ENSEMBL: ENSMUSP00000104007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091325] [ENSMUST00000108370] [ENSMUST00000163660] [ENSMUST00000165436] [ENSMUST00000167858] [ENSMUST00000169079]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091325
AA Change: Y362N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: Y362N

DomainStartEndE-ValueType
Pfam:LRR_8 60 116 1.1e-9 PFAM
Pfam:LRR_4 82 126 4.8e-8 PFAM
Blast:LRR 130 151 1e-5 BLAST
coiled coil region 412 626 N/A INTRINSIC
coiled coil region 675 718 N/A INTRINSIC
coiled coil region 757 1010 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108370
AA Change: Y378N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: Y378N

DomainStartEndE-ValueType
Pfam:LRR_8 60 116 1.1e-9 PFAM
Pfam:LRR_4 82 124 4.5e-8 PFAM
Blast:LRR 130 151 1e-5 BLAST
low complexity region 289 301 N/A INTRINSIC
coiled coil region 428 642 N/A INTRINSIC
coiled coil region 691 734 N/A INTRINSIC
coiled coil region 773 953 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163660
AA Change: Y256N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: Y256N

DomainStartEndE-ValueType
Blast:LRR 8 29 7e-6 BLAST
SCOP:d1dcea3 9 71 9e-4 SMART
low complexity region 167 179 N/A INTRINSIC
coiled coil region 306 520 N/A INTRINSIC
coiled coil region 569 612 N/A INTRINSIC
coiled coil region 651 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165436
SMART Domains Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
Pfam:LRR_9 32 154 4e-10 PFAM
Pfam:LRR_6 60 83 1.4e-4 PFAM
Pfam:LRR_4 60 103 6.2e-11 PFAM
Pfam:LRR_8 60 116 8.1e-11 PFAM
Pfam:LRR_1 61 81 3.3e-4 PFAM
Pfam:LRR_6 78 105 3.4e-3 PFAM
Pfam:LRR_4 82 125 4.9e-9 PFAM
Pfam:LRR_6 103 125 5.1e-4 PFAM
Pfam:LRR_4 104 149 1.2e-8 PFAM
Pfam:LRR_1 105 128 3.8e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167858
SMART Domains Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
coiled coil region 7 221 N/A INTRINSIC
coiled coil region 270 313 N/A INTRINSIC
low complexity region 450 472 N/A INTRINSIC
SCOP:d1ek8a_ 494 550 7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169079
AA Change: Y378N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: Y378N

DomainStartEndE-ValueType
Pfam:LRR_4 60 102 4.3e-9 PFAM
internal_repeat_1 109 145 1.05e-6 PROSPERO
low complexity region 289 301 N/A INTRINSIC
coiled coil region 428 642 N/A INTRINSIC
coiled coil region 691 734 N/A INTRINSIC
coiled coil region 773 1026 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169799
SMART Domains Protein: ENSMUSP00000126592
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
coiled coil region 1 131 N/A INTRINSIC
coiled coil region 200 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171620
SMART Domains Protein: ENSMUSP00000128252
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
coiled coil region 30 91 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,960,126 (GRCm39) D31V probably damaging Het
Acaca A T 11: 84,211,368 (GRCm39) Y1560F probably benign Het
Actl7a A G 4: 56,743,980 (GRCm39) E169G probably damaging Het
Adgrb3 A G 1: 25,598,895 (GRCm39) V270A probably benign Het
Adgre4 G A 17: 56,104,740 (GRCm39) V269I probably benign Het
Ankhd1 A G 18: 36,781,427 (GRCm39) T2160A probably damaging Het
Bltp1 T C 3: 37,095,512 (GRCm39) V4505A probably benign Het
Bnip2 T A 9: 69,909,398 (GRCm39) probably benign Het
Casp16 A G 17: 23,771,027 (GRCm39) V126A probably damaging Het
Ccser1 C A 6: 61,695,136 (GRCm39) T157K probably benign Het
Cdh23 A G 10: 60,151,503 (GRCm39) S2459P probably damaging Het
Cdk5rap3 A T 11: 96,804,291 (GRCm39) C21S probably damaging Het
Chmp6 G A 11: 119,807,812 (GRCm39) E72K probably benign Het
Cldn23 T C 8: 36,292,816 (GRCm39) Y224C probably damaging Het
Cry1 C T 10: 84,982,338 (GRCm39) G336D probably damaging Het
Cyp4f17 T A 17: 32,725,956 (GRCm39) F30I probably benign Het
Dgcr8 T A 16: 18,096,200 (GRCm39) D496V probably damaging Het
Dhx9 A G 1: 153,344,614 (GRCm39) probably benign Het
Dnah10 C T 5: 124,820,801 (GRCm39) probably benign Het
Dock9 T C 14: 121,860,282 (GRCm39) E880G possibly damaging Het
Dscam A G 16: 96,456,136 (GRCm39) V1264A probably damaging Het
Eno1 T C 4: 150,331,167 (GRCm39) Y270H probably benign Het
Eprs1 A G 1: 185,117,112 (GRCm39) D385G probably damaging Het
Ercc2 A G 7: 19,124,346 (GRCm39) Y215C probably damaging Het
Fscn2 A G 11: 120,258,576 (GRCm39) N400S possibly damaging Het
Fuca1 C T 4: 135,666,512 (GRCm39) T449I probably benign Het
Gm43638 T C 5: 87,613,290 (GRCm39) K492E probably damaging Het
Gm5263 T G 1: 146,296,302 (GRCm39) noncoding transcript Het
Gm8122 T C 14: 43,090,158 (GRCm39) T111A unknown Het
Gtf3c2 T A 5: 31,314,979 (GRCm39) N923Y probably benign Het
Il17a T A 1: 20,803,864 (GRCm39) D86E probably benign Het
Itgb2l G T 16: 96,231,775 (GRCm39) N330K probably benign Het
Kcnj11 T C 7: 45,748,489 (GRCm39) H278R probably benign Het
Khdrbs2 T A 1: 32,658,257 (GRCm39) Y272* probably null Het
Kndc1 A T 7: 139,509,959 (GRCm39) Q1267L probably damaging Het
Loxhd1 T A 18: 77,374,120 (GRCm39) F64I possibly damaging Het
Lrig2 T A 3: 104,398,861 (GRCm39) K222N probably benign Het
Mblac2 T C 13: 81,898,434 (GRCm39) L270P probably damaging Het
Med13 A T 11: 86,210,609 (GRCm39) I511N probably benign Het
Myo3a A T 2: 22,428,033 (GRCm39) E763D probably damaging Het
Or1e25 T A 11: 73,493,858 (GRCm39) F151I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or4a68 C T 2: 89,270,144 (GRCm39) V160I probably benign Het
Or5b97 T A 19: 12,879,112 (GRCm39) T11S probably benign Het
Or7g27 G A 9: 19,250,598 (GRCm39) V281I possibly damaging Het
Plxna4 T A 6: 32,214,613 (GRCm39) I623F possibly damaging Het
Ppp2ca T A 11: 52,008,882 (GRCm39) Y127* probably null Het
Psg18 A G 7: 18,087,322 (GRCm39) V112A possibly damaging Het
Ptprj A T 2: 90,299,918 (GRCm39) N108K probably benign Het
Rictor A G 15: 6,806,865 (GRCm39) Y707C probably damaging Het
Rptn T C 3: 93,302,946 (GRCm39) F93S probably benign Het
Rxrg T A 1: 167,454,884 (GRCm39) C156S probably damaging Het
Slc24a4 T C 12: 102,189,946 (GRCm39) probably benign Het
Slc25a27 C T 17: 43,974,964 (GRCm39) probably null Het
Slx4 T C 16: 3,808,112 (GRCm39) K481E probably benign Het
Snx19 T C 9: 30,374,560 (GRCm39) W940R possibly damaging Het
Spopfm1 T A 3: 94,173,791 (GRCm39) D262E probably benign Het
Tasor2 G A 13: 3,626,633 (GRCm39) P1106S probably benign Het
Tcf20 G A 15: 82,740,209 (GRCm39) P414L probably damaging Het
Treml2 T C 17: 48,609,838 (GRCm39) V90A probably benign Het
Uckl1 C T 2: 181,211,327 (GRCm39) V501M probably damaging Het
Unc79 C T 12: 103,108,256 (GRCm39) T1937I probably damaging Het
Vmn2r17 A T 5: 109,567,903 (GRCm39) I9F probably benign Het
Vmn2r44 T C 7: 8,383,237 (GRCm39) H119R probably benign Het
Vmn2r78 A G 7: 86,603,643 (GRCm39) D607G probably benign Het
Vps13a C T 19: 16,641,258 (GRCm39) G2288D probably damaging Het
Znfx1 G T 2: 166,897,643 (GRCm39) T427N probably damaging Het
Other mutations in Lrrcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Lrrcc1 APN 3 14,601,188 (GRCm39) missense possibly damaging 0.91
IGL01325:Lrrcc1 APN 3 14,601,601 (GRCm39) critical splice donor site probably null
IGL01681:Lrrcc1 APN 3 14,613,286 (GRCm39) missense probably benign 0.35
IGL01868:Lrrcc1 APN 3 14,619,417 (GRCm39) nonsense probably null
IGL03123:Lrrcc1 APN 3 14,601,144 (GRCm39) missense probably damaging 0.97
PIT1430001:Lrrcc1 UTSW 3 14,610,656 (GRCm39) missense probably damaging 0.99
R0295:Lrrcc1 UTSW 3 14,630,909 (GRCm39) missense probably benign 0.05
R0427:Lrrcc1 UTSW 3 14,623,416 (GRCm39) missense probably damaging 1.00
R0433:Lrrcc1 UTSW 3 14,624,434 (GRCm39) missense probably damaging 1.00
R0534:Lrrcc1 UTSW 3 14,622,333 (GRCm39) missense probably damaging 1.00
R0631:Lrrcc1 UTSW 3 14,605,179 (GRCm39) splice site probably benign
R0635:Lrrcc1 UTSW 3 14,624,288 (GRCm39) missense probably benign 0.11
R1355:Lrrcc1 UTSW 3 14,613,174 (GRCm39) missense probably benign 0.07
R1370:Lrrcc1 UTSW 3 14,613,174 (GRCm39) missense probably benign 0.07
R1727:Lrrcc1 UTSW 3 14,602,423 (GRCm39) missense probably damaging 0.99
R1822:Lrrcc1 UTSW 3 14,624,285 (GRCm39) unclassified probably benign
R1946:Lrrcc1 UTSW 3 14,615,453 (GRCm39) missense probably benign 0.02
R2254:Lrrcc1 UTSW 3 14,612,315 (GRCm39) missense probably damaging 1.00
R2362:Lrrcc1 UTSW 3 14,628,084 (GRCm39) missense probably damaging 1.00
R2392:Lrrcc1 UTSW 3 14,601,580 (GRCm39) missense probably damaging 1.00
R4105:Lrrcc1 UTSW 3 14,615,388 (GRCm39) missense probably benign 0.21
R4464:Lrrcc1 UTSW 3 14,622,378 (GRCm39) missense probably damaging 1.00
R4484:Lrrcc1 UTSW 3 14,616,503 (GRCm39) missense probably damaging 1.00
R4543:Lrrcc1 UTSW 3 14,604,851 (GRCm39) missense probably damaging 0.98
R4718:Lrrcc1 UTSW 3 14,601,092 (GRCm39) missense probably damaging 1.00
R4734:Lrrcc1 UTSW 3 14,627,345 (GRCm39) missense probably damaging 1.00
R4799:Lrrcc1 UTSW 3 14,601,156 (GRCm39) nonsense probably null
R4841:Lrrcc1 UTSW 3 14,627,571 (GRCm39) missense probably benign 0.04
R4842:Lrrcc1 UTSW 3 14,627,571 (GRCm39) missense probably benign 0.04
R5900:Lrrcc1 UTSW 3 14,627,186 (GRCm39) missense possibly damaging 0.69
R6338:Lrrcc1 UTSW 3 14,612,376 (GRCm39) missense possibly damaging 0.48
R7001:Lrrcc1 UTSW 3 14,605,155 (GRCm39) missense probably damaging 0.99
R7036:Lrrcc1 UTSW 3 14,628,069 (GRCm39) missense possibly damaging 0.80
R7342:Lrrcc1 UTSW 3 14,619,431 (GRCm39) missense probably benign
R8038:Lrrcc1 UTSW 3 14,630,890 (GRCm39) missense possibly damaging 0.77
R8497:Lrrcc1 UTSW 3 14,605,044 (GRCm39) missense possibly damaging 0.80
R8509:Lrrcc1 UTSW 3 14,601,567 (GRCm39) missense probably damaging 1.00
R8679:Lrrcc1 UTSW 3 14,601,084 (GRCm39) missense probably benign 0.00
R8966:Lrrcc1 UTSW 3 14,602,359 (GRCm39) missense probably damaging 1.00
R9120:Lrrcc1 UTSW 3 14,615,489 (GRCm39) nonsense probably null
R9251:Lrrcc1 UTSW 3 14,623,454 (GRCm39) missense probably damaging 1.00
R9512:Lrrcc1 UTSW 3 14,613,301 (GRCm39) missense possibly damaging 0.95
R9572:Lrrcc1 UTSW 3 14,601,148 (GRCm39) nonsense probably null
R9788:Lrrcc1 UTSW 3 14,602,286 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04