Incidental Mutation 'R2054:Leng8'
ID 226518
Institutional Source Beutler Lab
Gene Symbol Leng8
Ensembl Gene ENSMUSG00000035545
Gene Name leukocyte receptor cluster (LRC) member 8
Synonyms
MMRRC Submission 040059-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R2054 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4140038-4151176 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 4147289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 562 (Y562*)
Ref Sequence ENSEMBL: ENSMUSP00000112428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037472] [ENSMUST00000058358] [ENSMUST00000117274] [ENSMUST00000121270] [ENSMUST00000128756] [ENSMUST00000154571] [ENSMUST00000132086] [ENSMUST00000144248]
AlphaFold Q8CBY3
Predicted Effect probably null
Transcript: ENSMUST00000037472
AA Change: Y562*
SMART Domains Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545
AA Change: Y562*

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
Pfam:SAC3_GANP 567 762 8.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058358
SMART Domains Protein: ENSMUSP00000061079
Gene: ENSMUSG00000043432

DomainStartEndE-ValueType
ZnF_C3H1 8 34 1.72e-4 SMART
Pfam:DUF504 77 128 1.9e-11 PFAM
Pfam:AKAP7_NLS 305 484 2.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117274
SMART Domains Protein: ENSMUSP00000113223
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 104 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000121270
AA Change: Y562*
SMART Domains Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545
AA Change: Y562*

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
Pfam:SAC3_GANP 567 764 7.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127723
Predicted Effect probably benign
Transcript: ENSMUST00000128756
SMART Domains Protein: ENSMUSP00000118832
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155881
Predicted Effect probably benign
Transcript: ENSMUST00000154571
SMART Domains Protein: ENSMUSP00000123328
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132086
SMART Domains Protein: ENSMUSP00000121129
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 29 51 N/A INTRINSIC
low complexity region 63 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144248
SMART Domains Protein: ENSMUSP00000120574
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 104 N/A INTRINSIC
low complexity region 119 137 N/A INTRINSIC
low complexity region 346 359 N/A INTRINSIC
low complexity region 376 410 N/A INTRINSIC
low complexity region 416 431 N/A INTRINSIC
Pfam:SAC3_GANP 530 725 1e-65 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,562 (GRCm39) C94S possibly damaging Het
A930011G23Rik T C 5: 99,375,914 (GRCm39) Y432C probably benign Het
Abtb2 A G 2: 103,535,462 (GRCm39) D543G probably benign Het
Adam9 A T 8: 25,481,310 (GRCm39) V318E probably damaging Het
Aim2 T C 1: 173,291,548 (GRCm39) F318L probably damaging Het
Apob A T 12: 8,063,134 (GRCm39) D3872V probably damaging Het
Atat1 T A 17: 36,212,261 (GRCm39) R323W probably null Het
Atp2b4 T C 1: 133,642,907 (GRCm39) D1066G probably benign Het
Bltp1 A G 3: 37,002,002 (GRCm39) T1316A probably benign Het
Caskin2 T C 11: 115,697,127 (GRCm39) probably benign Het
Cblif G A 19: 11,736,370 (GRCm39) V314I probably benign Het
Ccdc54 T A 16: 50,410,987 (GRCm39) N93I probably damaging Het
Ccnd1 A C 7: 144,491,128 (GRCm39) D159E possibly damaging Het
Cnot1 A C 8: 96,466,469 (GRCm39) S1589R possibly damaging Het
Copa T A 1: 171,946,524 (GRCm39) Y980* probably null Het
Defb19 A G 2: 152,418,090 (GRCm39) I82T possibly damaging Het
Elapor2 C A 5: 9,513,030 (GRCm39) T1008K possibly damaging Het
Fiz1 G A 7: 5,011,235 (GRCm39) R428C probably damaging Het
Fnip2 A T 3: 79,479,772 (GRCm39) probably benign Het
Gabrb3 G A 7: 57,474,241 (GRCm39) G408S probably benign Het
Hao1 C T 2: 134,340,178 (GRCm39) silent Het
Hecw1 T A 13: 14,471,998 (GRCm39) M557L probably damaging Het
Itch A T 2: 155,052,496 (GRCm39) I699F probably damaging Het
Kmt2a T C 9: 44,734,671 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1b A T 2: 40,587,494 (GRCm39) N151K unknown Het
Lrrc71 T C 3: 87,649,980 (GRCm39) E316G probably damaging Het
Mgat5 A G 1: 127,325,344 (GRCm39) N404D probably damaging Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Mtor A G 4: 148,547,309 (GRCm39) T431A probably benign Het
Mtor T A 4: 148,550,482 (GRCm39) C713S probably benign Het
Mug2 A G 6: 122,054,451 (GRCm39) K1077E probably damaging Het
Nbas A G 12: 13,524,207 (GRCm39) T1688A probably benign Het
Nek2 T C 1: 191,553,764 (GRCm39) S3P possibly damaging Het
Nell2 T C 15: 95,332,990 (GRCm39) T190A probably benign Het
Npr2 A T 4: 43,646,560 (GRCm39) N636I probably damaging Het
Orc3 A T 4: 34,584,846 (GRCm39) I453K probably damaging Het
Pcnx1 A G 12: 81,980,448 (GRCm39) H865R probably benign Het
Pex1 T C 5: 3,653,341 (GRCm39) V80A possibly damaging Het
Phka2 T A X: 159,337,323 (GRCm39) D424E probably damaging Het
Pkd1 C T 17: 24,793,770 (GRCm39) T1819I probably benign Het
Poglut1 T C 16: 38,355,169 (GRCm39) D219G probably damaging Het
Ppargc1a T C 5: 51,631,130 (GRCm39) I500V possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pygm C G 19: 6,438,185 (GRCm39) N163K probably benign Het
Qrich1 T A 9: 108,436,469 (GRCm39) N722K possibly damaging Het
Reep6 T A 10: 80,166,156 (GRCm39) C104* probably null Het
Rfx8 A G 1: 39,724,719 (GRCm39) V214A possibly damaging Het
Sis G A 3: 72,820,570 (GRCm39) T1398I probably benign Het
Skint5 A G 4: 113,676,360 (GRCm39) probably null Het
Slc7a14 A G 3: 31,291,511 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,948 (GRCm39) M646K probably benign Het
Snx29 A G 16: 11,449,356 (GRCm39) N165S probably damaging Het
Supt6 T A 11: 78,115,187 (GRCm39) probably benign Het
Tead4 G T 6: 128,247,925 (GRCm39) S37R probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex56 T A 13: 35,108,574 (GRCm39) Y19N probably damaging Het
Tff2 T C 17: 31,362,199 (GRCm39) K40E probably benign Het
Traip C T 9: 107,840,118 (GRCm39) T265M probably benign Het
Trim47 T C 11: 115,999,109 (GRCm39) T256A probably benign Het
Trpm1 A G 7: 63,890,303 (GRCm39) M853V possibly damaging Het
Tti1 G T 2: 157,849,365 (GRCm39) Q625K possibly damaging Het
Ube2n A G 10: 95,377,128 (GRCm39) N31S probably damaging Het
Vmn2r17 T C 5: 109,600,352 (GRCm39) M550T probably damaging Het
Zfp512 T A 5: 31,622,793 (GRCm39) N31K probably benign Het
Zfp64 A G 2: 168,767,728 (GRCm39) V628A probably damaging Het
Other mutations in Leng8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Leng8 APN 7 4,148,481 (GRCm39) missense probably benign 0.03
IGL02437:Leng8 APN 7 4,145,092 (GRCm39) missense probably damaging 0.99
Coolhand UTSW 7 4,147,932 (GRCm39) nonsense probably null
R0104:Leng8 UTSW 7 4,146,807 (GRCm39) missense probably damaging 0.99
R0774:Leng8 UTSW 7 4,145,135 (GRCm39) missense probably damaging 1.00
R1696:Leng8 UTSW 7 4,148,135 (GRCm39) missense probably damaging 1.00
R2001:Leng8 UTSW 7 4,148,073 (GRCm39) missense probably damaging 1.00
R2012:Leng8 UTSW 7 4,146,609 (GRCm39) missense probably damaging 1.00
R3433:Leng8 UTSW 7 4,145,131 (GRCm39) missense probably benign 0.22
R4335:Leng8 UTSW 7 4,150,037 (GRCm39) missense probably damaging 0.99
R4607:Leng8 UTSW 7 4,147,796 (GRCm39) missense probably damaging 1.00
R4608:Leng8 UTSW 7 4,147,796 (GRCm39) missense probably damaging 1.00
R4886:Leng8 UTSW 7 4,147,930 (GRCm39) splice site probably null
R5307:Leng8 UTSW 7 4,148,472 (GRCm39) missense probably damaging 1.00
R5339:Leng8 UTSW 7 4,148,285 (GRCm39) missense possibly damaging 0.96
R5368:Leng8 UTSW 7 4,142,987 (GRCm39) missense probably damaging 0.97
R5370:Leng8 UTSW 7 4,148,433 (GRCm39) missense possibly damaging 0.48
R5615:Leng8 UTSW 7 4,147,957 (GRCm39) nonsense probably null
R5645:Leng8 UTSW 7 4,148,273 (GRCm39) missense probably damaging 1.00
R5750:Leng8 UTSW 7 4,145,119 (GRCm39) missense probably benign 0.04
R6041:Leng8 UTSW 7 4,148,568 (GRCm39) missense probably benign 0.01
R6054:Leng8 UTSW 7 4,148,522 (GRCm39) splice site probably null
R6481:Leng8 UTSW 7 4,148,412 (GRCm39) missense probably damaging 1.00
R6826:Leng8 UTSW 7 4,148,319 (GRCm39) missense probably damaging 1.00
R6919:Leng8 UTSW 7 4,146,625 (GRCm39) missense possibly damaging 0.82
R7313:Leng8 UTSW 7 4,142,525 (GRCm39) missense possibly damaging 0.73
R7357:Leng8 UTSW 7 4,147,932 (GRCm39) nonsense probably null
R7428:Leng8 UTSW 7 4,146,572 (GRCm39) missense probably damaging 1.00
R7686:Leng8 UTSW 7 4,146,504 (GRCm39) nonsense probably null
R8027:Leng8 UTSW 7 4,145,855 (GRCm39) frame shift probably null
R8198:Leng8 UTSW 7 4,147,170 (GRCm39) missense possibly damaging 0.82
R9048:Leng8 UTSW 7 4,146,931 (GRCm39) unclassified probably benign
R9103:Leng8 UTSW 7 4,146,897 (GRCm39) missense probably damaging 1.00
R9234:Leng8 UTSW 7 4,145,247 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCCCCAGACATGACCTAGC -3'
(R):5'- AGATGTGAAGGGCCTGCATG -3'

Sequencing Primer
(F):5'- ACTGGAGTGCGAGGACC -3'
(R):5'- CATGCTAGGATTTTTCTCAGCCAGAG -3'
Posted On 2014-09-17