Incidental Mutation 'IGL01981:Lrrd1'
ID 183475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrd1
Ensembl Gene ENSMUSG00000040367
Gene Name leucine rich repeats and death domain containing 1
Synonyms 4932412H11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01981
Quality Score
Status
Chromosome 5
Chromosomal Location 3895173-3916596 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3901267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 524 (C524F)
Ref Sequence ENSEMBL: ENSMUSP00000038675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044039] [ENSMUST00000143027]
AlphaFold Q8C0R9
Predicted Effect probably damaging
Transcript: ENSMUST00000044039
AA Change: C524F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: C524F

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
LRR 181 203 3.18e1 SMART
LRR 204 226 7.8e1 SMART
LRR 227 249 5.26e0 SMART
LRR 250 272 3.98e1 SMART
LRR 273 294 2.33e1 SMART
LRR 296 318 2.14e1 SMART
LRR_TYP 319 342 1.45e-2 SMART
LRR 365 388 4.44e0 SMART
LRR 389 410 2.76e1 SMART
LRR 411 433 8.73e1 SMART
LRR 434 457 3.55e1 SMART
LRR 480 503 1.45e1 SMART
LRR 526 548 1.31e0 SMART
LRR 549 571 3.65e1 SMART
LRR 572 594 6.22e0 SMART
LRR 595 618 2.68e1 SMART
LRR 644 665 1.15e1 SMART
LRR 667 689 8.01e0 SMART
LRR 690 713 1.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143027
SMART Domains Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Lrrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Lrrd1 APN 5 3,900,573 (GRCm39) missense possibly damaging 0.94
IGL00329:Lrrd1 APN 5 3,900,081 (GRCm39) missense possibly damaging 0.94
IGL00674:Lrrd1 APN 5 3,899,773 (GRCm39) missense possibly damaging 0.92
IGL00691:Lrrd1 APN 5 3,913,929 (GRCm39) missense probably damaging 0.98
IGL00839:Lrrd1 APN 5 3,900,017 (GRCm39) missense probably benign 0.00
IGL00911:Lrrd1 APN 5 3,915,689 (GRCm39) missense probably benign 0.07
IGL01754:Lrrd1 APN 5 3,901,432 (GRCm39) missense probably damaging 1.00
IGL02003:Lrrd1 APN 5 3,899,857 (GRCm39) missense probably damaging 0.99
IGL02223:Lrrd1 APN 5 3,900,211 (GRCm39) missense probably benign
IGL02477:Lrrd1 APN 5 3,915,770 (GRCm39) missense probably benign
IGL02609:Lrrd1 APN 5 3,908,803 (GRCm39) missense probably benign 0.26
IGL02833:Lrrd1 APN 5 3,900,709 (GRCm39) missense probably damaging 0.98
IGL02886:Lrrd1 APN 5 3,901,534 (GRCm39) missense probably benign 0.00
IGL02896:Lrrd1 APN 5 3,901,473 (GRCm39) missense probably benign 0.08
R0045:Lrrd1 UTSW 5 3,916,418 (GRCm39) missense possibly damaging 0.50
R0138:Lrrd1 UTSW 5 3,901,345 (GRCm39) missense probably benign 0.04
R0305:Lrrd1 UTSW 5 3,915,707 (GRCm39) missense probably damaging 1.00
R0346:Lrrd1 UTSW 5 3,900,215 (GRCm39) missense probably benign 0.03
R0455:Lrrd1 UTSW 5 3,916,425 (GRCm39) missense probably benign 0.21
R1717:Lrrd1 UTSW 5 3,900,580 (GRCm39) missense probably damaging 0.99
R1719:Lrrd1 UTSW 5 3,900,483 (GRCm39) splice site probably null
R1836:Lrrd1 UTSW 5 3,915,709 (GRCm39) missense probably benign 0.36
R1951:Lrrd1 UTSW 5 3,901,488 (GRCm39) missense probably damaging 1.00
R2199:Lrrd1 UTSW 5 3,916,478 (GRCm39) missense possibly damaging 0.86
R3751:Lrrd1 UTSW 5 3,900,282 (GRCm39) missense probably benign 0.37
R3752:Lrrd1 UTSW 5 3,900,282 (GRCm39) missense probably benign 0.37
R3837:Lrrd1 UTSW 5 3,900,204 (GRCm39) missense possibly damaging 0.73
R3862:Lrrd1 UTSW 5 3,901,248 (GRCm39) missense probably benign 0.00
R3863:Lrrd1 UTSW 5 3,901,248 (GRCm39) missense probably benign 0.00
R3864:Lrrd1 UTSW 5 3,901,248 (GRCm39) missense probably benign 0.00
R4816:Lrrd1 UTSW 5 3,901,126 (GRCm39) nonsense probably null
R5225:Lrrd1 UTSW 5 3,908,735 (GRCm39) missense probably benign 0.00
R5721:Lrrd1 UTSW 5 3,900,619 (GRCm39) missense probably benign 0.13
R5791:Lrrd1 UTSW 5 3,901,254 (GRCm39) missense probably benign 0.11
R6077:Lrrd1 UTSW 5 3,900,837 (GRCm39) missense probably benign 0.01
R6229:Lrrd1 UTSW 5 3,913,887 (GRCm39) missense probably damaging 1.00
R6330:Lrrd1 UTSW 5 3,900,629 (GRCm39) missense probably damaging 1.00
R6588:Lrrd1 UTSW 5 3,901,386 (GRCm39) missense probably benign 0.19
R6734:Lrrd1 UTSW 5 3,900,226 (GRCm39) missense possibly damaging 0.95
R6932:Lrrd1 UTSW 5 3,901,395 (GRCm39) missense probably benign 0.06
R7180:Lrrd1 UTSW 5 3,901,459 (GRCm39) missense probably damaging 1.00
R7771:Lrrd1 UTSW 5 3,916,476 (GRCm39) missense possibly damaging 0.84
R8356:Lrrd1 UTSW 5 3,916,509 (GRCm39) missense probably benign 0.19
R9031:Lrrd1 UTSW 5 3,900,963 (GRCm39) nonsense probably null
R9208:Lrrd1 UTSW 5 3,900,995 (GRCm39) missense probably damaging 0.97
R9344:Lrrd1 UTSW 5 3,908,819 (GRCm39) missense possibly damaging 0.59
R9381:Lrrd1 UTSW 5 3,901,074 (GRCm39) missense probably benign 0.43
R9400:Lrrd1 UTSW 5 3,899,677 (GRCm39) unclassified probably benign
R9471:Lrrd1 UTSW 5 3,913,980 (GRCm39) missense
R9549:Lrrd1 UTSW 5 3,901,473 (GRCm39) missense probably benign 0.08
R9557:Lrrd1 UTSW 5 3,901,432 (GRCm39) missense probably damaging 1.00
R9607:Lrrd1 UTSW 5 3,901,561 (GRCm39) missense probably damaging 0.99
R9725:Lrrd1 UTSW 5 3,901,147 (GRCm39) missense probably benign 0.42
R9775:Lrrd1 UTSW 5 3,899,897 (GRCm39) missense probably benign 0.03
R9778:Lrrd1 UTSW 5 3,899,982 (GRCm39) missense possibly damaging 0.77
R9785:Lrrd1 UTSW 5 3,908,708 (GRCm39) missense probably damaging 1.00
Z1176:Lrrd1 UTSW 5 3,900,025 (GRCm39) missense probably benign 0.09
Posted On 2014-05-07