Incidental Mutation 'IGL00835:Lrrfip1'
ID 12713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrfip1
Ensembl Gene ENSMUSG00000026305
Gene Name leucine rich repeat (in FLII) interacting protein 1
Synonyms FLAP (FLI LRR associated protein), Fliiap1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00835
Quality Score
Status
Chromosome 1
Chromosomal Location 90926459-91056666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91043140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 515 (T515I)
Ref Sequence ENSEMBL: ENSMUSP00000095254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068116] [ENSMUST00000068167] [ENSMUST00000097649] [ENSMUST00000097650] [ENSMUST00000185531] [ENSMUST00000189617]
AlphaFold Q3UZ39
Predicted Effect probably benign
Transcript: ENSMUST00000068116
SMART Domains Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 33 354 4.1e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068167
SMART Domains Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 23 123 2.2e-18 PFAM
Pfam:DUF2051 193 387 2.5e-49 PFAM
Pfam:DUF2051 366 553 8.1e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097649
AA Change: T515I

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: T515I

DomainStartEndE-ValueType
Pfam:DUF2051 23 327 1.3e-87 PFAM
internal_repeat_2 439 528 6e-5 PROSPERO
low complexity region 550 566 N/A INTRINSIC
internal_repeat_2 575 683 6e-5 PROSPERO
internal_repeat_1 647 715 1.05e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000097650
SMART Domains Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 23 120 2.3e-16 PFAM
Pfam:DUF2051 195 368 1.2e-63 PFAM
Pfam:DUF2051 379 554 1.8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185531
SMART Domains Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 33 118 1.2e-12 PFAM
low complexity region 138 158 N/A INTRINSIC
Pfam:DUF2051 231 413 3.7e-60 PFAM
Pfam:DUF2051 424 575 1.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188094
Predicted Effect probably benign
Transcript: ENSMUST00000189617
SMART Domains Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 23 108 1.4e-12 PFAM
low complexity region 128 148 N/A INTRINSIC
Pfam:DUF2051 229 403 1.2e-60 PFAM
Pfam:DUF2051 414 589 1.8e-44 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,341,892 (GRCm39) D1023G probably damaging Het
Agbl3 A G 6: 34,776,667 (GRCm39) D391G probably damaging Het
Aggf1 C A 13: 95,498,985 (GRCm39) V450F probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Creb3l4 T A 3: 90,149,294 (GRCm39) H138L possibly damaging Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Ctsb T A 14: 63,373,099 (GRCm39) D85E probably damaging Het
Etv2 A T 7: 30,333,092 (GRCm39) D325E probably benign Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Fkbp1b C T 12: 4,883,726 (GRCm39) G90S probably damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Lrrfip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Lrrfip1 APN 1 90,996,343 (GRCm39) missense probably damaging 1.00
IGL01603:Lrrfip1 APN 1 91,043,635 (GRCm39) missense probably benign 0.03
IGL02261:Lrrfip1 APN 1 91,039,890 (GRCm39) missense probably benign 0.22
IGL02401:Lrrfip1 APN 1 91,042,650 (GRCm39) missense probably benign 0.21
IGL02690:Lrrfip1 APN 1 90,981,383 (GRCm39) missense probably damaging 0.97
R0048:Lrrfip1 UTSW 1 91,021,369 (GRCm39) splice site probably benign
R0048:Lrrfip1 UTSW 1 91,021,369 (GRCm39) splice site probably benign
R0891:Lrrfip1 UTSW 1 90,996,337 (GRCm39) missense probably damaging 1.00
R1210:Lrrfip1 UTSW 1 91,042,915 (GRCm39) missense probably benign 0.16
R1352:Lrrfip1 UTSW 1 91,043,089 (GRCm39) missense probably benign
R1488:Lrrfip1 UTSW 1 91,042,354 (GRCm39) missense probably damaging 1.00
R1600:Lrrfip1 UTSW 1 91,042,389 (GRCm39) missense probably damaging 0.98
R1718:Lrrfip1 UTSW 1 91,043,277 (GRCm39) missense probably damaging 0.99
R2056:Lrrfip1 UTSW 1 91,043,539 (GRCm39) missense probably benign 0.25
R2993:Lrrfip1 UTSW 1 91,032,956 (GRCm39) missense probably damaging 0.99
R3782:Lrrfip1 UTSW 1 91,039,911 (GRCm39) missense possibly damaging 0.82
R4191:Lrrfip1 UTSW 1 91,038,121 (GRCm39) missense probably benign 0.39
R4675:Lrrfip1 UTSW 1 91,031,042 (GRCm39) critical splice donor site probably null
R4732:Lrrfip1 UTSW 1 91,043,369 (GRCm39) missense probably benign 0.29
R4733:Lrrfip1 UTSW 1 91,043,369 (GRCm39) missense probably benign 0.29
R5196:Lrrfip1 UTSW 1 91,042,330 (GRCm39) missense probably damaging 1.00
R5250:Lrrfip1 UTSW 1 91,043,618 (GRCm39) missense possibly damaging 0.90
R5433:Lrrfip1 UTSW 1 91,014,848 (GRCm39) critical splice donor site probably null
R6005:Lrrfip1 UTSW 1 91,042,333 (GRCm39) missense probably damaging 1.00
R6218:Lrrfip1 UTSW 1 91,009,881 (GRCm39) missense probably damaging 0.96
R6600:Lrrfip1 UTSW 1 91,043,569 (GRCm39) missense probably damaging 0.99
R6847:Lrrfip1 UTSW 1 91,032,850 (GRCm39) missense probably damaging 1.00
R6911:Lrrfip1 UTSW 1 91,042,529 (GRCm39) nonsense probably null
R6940:Lrrfip1 UTSW 1 91,050,135 (GRCm39) splice site probably null
R6976:Lrrfip1 UTSW 1 91,042,737 (GRCm39) missense probably benign 0.00
R7002:Lrrfip1 UTSW 1 91,043,180 (GRCm39) missense probably benign 0.31
R7205:Lrrfip1 UTSW 1 91,019,338 (GRCm39) missense probably benign 0.00
R7363:Lrrfip1 UTSW 1 91,050,842 (GRCm39) missense probably benign 0.05
R7552:Lrrfip1 UTSW 1 91,033,005 (GRCm39) missense probably damaging 1.00
R7910:Lrrfip1 UTSW 1 91,047,874 (GRCm39) missense possibly damaging 0.88
R8006:Lrrfip1 UTSW 1 91,004,673 (GRCm39) missense probably damaging 1.00
R8068:Lrrfip1 UTSW 1 91,055,824 (GRCm39) missense probably damaging 1.00
R8086:Lrrfip1 UTSW 1 91,043,630 (GRCm39) missense probably benign 0.00
R8221:Lrrfip1 UTSW 1 91,042,878 (GRCm39) missense probably benign 0.11
R8352:Lrrfip1 UTSW 1 90,926,541 (GRCm39) missense probably benign
R8362:Lrrfip1 UTSW 1 90,981,423 (GRCm39) missense probably damaging 1.00
R8903:Lrrfip1 UTSW 1 91,012,781 (GRCm39) intron probably benign
R9138:Lrrfip1 UTSW 1 91,038,080 (GRCm39) missense probably damaging 0.99
X0057:Lrrfip1 UTSW 1 91,043,125 (GRCm39) missense possibly damaging 0.67
Z1088:Lrrfip1 UTSW 1 91,043,252 (GRCm39) intron probably benign
Z1176:Lrrfip1 UTSW 1 91,028,921 (GRCm39) missense possibly damaging 0.66
Z1177:Lrrfip1 UTSW 1 91,050,216 (GRCm39) missense possibly damaging 0.73
Posted On 2012-12-06