Incidental Mutation 'R8198:Leng8'
ID 635535
Institutional Source Beutler Lab
Gene Symbol Leng8
Ensembl Gene ENSMUSG00000035545
Gene Name leukocyte receptor cluster (LRC) member 8
Synonyms
MMRRC Submission 067621-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R8198 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4140038-4151176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4147170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 523 (R523S)
Ref Sequence ENSEMBL: ENSMUSP00000046465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037472] [ENSMUST00000058358] [ENSMUST00000117274] [ENSMUST00000121270] [ENSMUST00000128756] [ENSMUST00000132086] [ENSMUST00000144248] [ENSMUST00000154571]
AlphaFold Q8CBY3
Predicted Effect possibly damaging
Transcript: ENSMUST00000037472
AA Change: R523S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545
AA Change: R523S

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 possibly damaging
Transcript: ENSMUST00000121270
AA Change: R523S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545
AA Change: R523S

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 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: 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
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T C 14: 41,825,017 (GRCm39) *168R probably null Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ankrd27 T C 7: 35,307,880 (GRCm39) V373A probably benign Het
Aoah C T 13: 21,101,290 (GRCm39) P270L probably damaging Het
AU041133 C G 10: 81,987,249 (GRCm39) P301A probably damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Cd2bp2 A G 7: 126,793,576 (GRCm39) S204P possibly damaging Het
Clca4b C A 3: 144,638,167 (GRCm39) G32C probably damaging Het
Clcn2 A G 16: 20,525,946 (GRCm39) V808A probably damaging Het
Clec4d T C 6: 123,244,965 (GRCm39) C82R probably damaging Het
Dennd1c T C 17: 57,373,460 (GRCm39) D671G possibly damaging Het
Eml5 G A 12: 98,825,145 (GRCm39) R691* probably null Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gm4922 T C 10: 18,659,340 (GRCm39) T461A probably benign Het
Gm9964 A G 11: 79,187,405 (GRCm39) V14A unknown Het
Gnb3 T C 6: 124,814,000 (GRCm39) Y196C probably benign Het
H4c2 C G 13: 23,941,283 (GRCm39) Q94E possibly damaging Het
Hps1 C T 19: 42,755,659 (GRCm39) R189Q probably benign Het
Iars2 G A 1: 185,029,703 (GRCm39) T638I probably benign Het
Itpripl2 A G 7: 118,089,819 (GRCm39) S247P probably damaging Het
Lhfpl3 T A 5: 23,478,333 (GRCm39) V72D probably benign Het
Lmntd2 A T 7: 140,791,134 (GRCm39) M426K possibly damaging Het
Lsg1 A T 16: 30,383,594 (GRCm39) V542E probably benign Het
Mphosph6 C T 8: 118,519,449 (GRCm39) V108I probably benign Het
Mta2 A G 19: 8,925,145 (GRCm39) T338A probably benign Het
Ncoa7 T C 10: 30,580,664 (GRCm39) N98S probably benign Het
Or52h7 T A 7: 104,214,140 (GRCm39) D237E probably benign Het
Or7a36 C A 10: 78,820,443 (GRCm39) T273K probably benign Het
Or7a42 T A 10: 78,791,558 (GRCm39) V173E probably damaging Het
Pgr T C 9: 8,958,411 (GRCm39) V806A possibly damaging Het
Rad54b T C 4: 11,612,440 (GRCm39) probably null Het
Sdad1 A T 5: 92,439,811 (GRCm39) C405S probably damaging Het
Semp2l2a T A 8: 13,887,056 (GRCm39) Y345F probably benign Het
Shoc1 T C 4: 59,065,174 (GRCm39) I814V probably benign Het
Smg1 T C 7: 117,744,829 (GRCm39) I3108V probably benign Het
Spink5 A T 18: 44,125,947 (GRCm39) I409F probably benign Het
Syt13 C A 2: 92,783,899 (GRCm39) L390M probably damaging Het
Taf5 T A 19: 47,064,212 (GRCm39) V385E probably damaging Het
Tdrd9 T A 12: 112,006,863 (GRCm39) V909E probably damaging Het
Tex9 G A 9: 72,387,940 (GRCm39) probably benign Het
Timm10b G T 7: 105,327,537 (GRCm39) E61* probably null Het
Tmprss11g A T 5: 86,646,352 (GRCm39) F72I probably benign Het
Trank1 T C 9: 111,219,880 (GRCm39) C2206R probably benign Het
Uba52rt C A 4: 3,973,346 (GRCm39) R72L probably benign Het
Unc45b GC G 11: 82,816,814 (GRCm39) probably null Het
Unc93b1 T C 19: 3,991,910 (GRCm39) S215P possibly damaging Het
Usp48 C T 4: 137,348,470 (GRCm39) probably benign Het
Vmn1r81 A G 7: 11,993,882 (GRCm39) V242A possibly damaging Het
Zgrf1 T A 3: 127,389,673 (GRCm39) probably null 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
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
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'- GGCCTTCAGAGTGGCTAAAGAC -3'
(R):5'- GTGCCCGATCTTATGTTATGCC -3'

Sequencing Primer
(F):5'- CCTTCAGAGTGGCTAAAGACATTGAC -3'
(R):5'- GTTATGCCCAACACATTCTGGGG -3'
Posted On 2020-07-13