Incidental Mutation 'R5615:Leng8'
ID 438188
Institutional Source Beutler Lab
Gene Symbol Leng8
Ensembl Gene ENSMUSG00000035545
Gene Name leukocyte receptor cluster (LRC) member 8
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4140038-4151176 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 4147957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 634 (E634*)
Ref Sequence ENSEMBL: ENSMUSP00000112428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037472] [ENSMUST00000058358] [ENSMUST00000117274] [ENSMUST00000121270] [ENSMUST00000128756] [ENSMUST00000144248] [ENSMUST00000132086] [ENSMUST00000154571]
AlphaFold Q8CBY3
Predicted Effect probably null
Transcript: ENSMUST00000037472
AA Change: E634*
SMART Domains Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545
AA Change: E634*

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: E634*
SMART Domains Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545
AA Change: E634*

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155881
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: 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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N 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
R2054:Leng8 UTSW 7 4,147,289 (GRCm39) nonsense probably null
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
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'- TGTGCATGGTCAAGTCCCAC -3'
(R):5'- ACATTGCCTGCTAAGTTTTCCG -3'

Sequencing Primer
(F):5'- CCTGTGAGCAGATGAAGTCCATTC -3'
(R):5'- TCCGCGTACAGTGACTTAAG -3'
Posted On 2016-10-26