Incidental Mutation 'IGL01603:Lrrfip1'
ID 92228
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 # IGL01603
Quality Score
Status
Chromosome 1
Chromosomal Location 90926459-91056666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91043635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 680 (T680I)
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 probably benign
Transcript: ENSMUST00000097649
AA Change: T680I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: T680I

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,564,327 (GRCm39) D20V probably damaging Het
Akr1c12 A G 13: 4,322,926 (GRCm39) probably null Het
Baiap2l1 C T 5: 144,217,625 (GRCm39) probably benign Het
Baz2a T C 10: 127,947,037 (GRCm39) F184L probably damaging Het
Cadps T C 14: 12,454,154 (GRCm38) probably benign Het
Cbr4 A T 8: 61,956,245 (GRCm39) *237Y probably null Het
Cln3 T G 7: 126,174,526 (GRCm39) N275T probably benign Het
Csf1r A G 18: 61,262,373 (GRCm39) E823G probably damaging Het
Ctr9 C A 7: 110,648,538 (GRCm39) A726D probably damaging Het
Def6 C T 17: 28,438,714 (GRCm39) probably benign Het
Dock4 T A 12: 40,743,030 (GRCm39) I395N probably damaging Het
Eln T C 5: 134,747,894 (GRCm39) probably benign Het
Fasn A T 11: 120,706,891 (GRCm39) H920Q probably damaging Het
Glb1l3 A G 9: 26,770,832 (GRCm39) I78T probably damaging Het
Gm7275 A T 16: 47,893,942 (GRCm39) noncoding transcript Het
Grm5 A C 7: 87,252,386 (GRCm39) Y212S probably damaging Het
Gtf2ird2 T C 5: 134,231,129 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,942,175 (GRCm39) V528A probably damaging Het
Hspg2 G A 4: 137,280,114 (GRCm39) A3168T probably damaging Het
Kcnj6 A G 16: 94,634,058 (GRCm39) S18P probably benign Het
Kcnq5 T A 1: 21,575,564 (GRCm39) K294I possibly damaging Het
Lama4 G A 10: 38,941,642 (GRCm39) G693E possibly damaging Het
Ldb1 A T 19: 46,024,014 (GRCm39) I124K probably damaging Het
Lypd10 T A 7: 24,411,954 (GRCm39) W45R probably damaging Het
Map3k19 T A 1: 127,758,010 (GRCm39) D186V possibly damaging Het
Mrgprx2 T C 7: 48,132,374 (GRCm39) Y148C probably damaging Het
Muc4 G A 16: 32,569,473 (GRCm39) A178T probably benign Het
Mylip A C 13: 45,543,479 (GRCm39) E16A probably benign Het
Nek9 A G 12: 85,352,379 (GRCm39) F828S probably damaging Het
Obscn A G 11: 58,928,631 (GRCm39) F6012L probably damaging Het
Or14a257 A G 7: 86,138,139 (GRCm39) S207P possibly damaging Het
Or2o1 A C 11: 49,051,438 (GRCm39) D199A probably damaging Het
Or5p54 A G 7: 107,554,580 (GRCm39) Y244C possibly damaging Het
Pcid2 T A 8: 13,129,936 (GRCm39) K273N possibly damaging Het
Plekhm3 C T 1: 64,960,991 (GRCm39) D422N probably damaging Het
Prr12 T C 7: 44,692,909 (GRCm39) H1541R probably damaging Het
Psg26 A C 7: 18,209,028 (GRCm39) V460G probably damaging Het
Rbmxl1 G A 8: 79,232,459 (GRCm39) R295* probably null Het
Sbf1 A T 15: 89,187,481 (GRCm39) V690E probably damaging Het
Serpinb2 T A 1: 107,449,910 (GRCm39) S108T probably benign Het
Sin3b T C 8: 73,476,692 (GRCm39) Y709H probably damaging Het
Slc17a5 A G 9: 78,481,989 (GRCm39) W160R probably damaging Het
Spef2 T A 15: 9,704,466 (GRCm39) D449V probably damaging Het
Tas2r108 C A 6: 40,470,720 (GRCm39) N65K possibly damaging Het
Tex15 T A 8: 34,063,575 (GRCm39) F1002I possibly damaging Het
Trpm5 G A 7: 142,629,338 (GRCm39) S942L probably benign Het
Tspan5 T C 3: 138,596,517 (GRCm39) S52P probably damaging Het
Uqcrfs1 T C 13: 30,725,181 (GRCm39) T120A probably benign Het
Usp6nl T C 2: 6,428,246 (GRCm39) F193L probably damaging Het
Vmn2r26 T A 6: 124,030,833 (GRCm39) C523S probably damaging Het
Wfdc2 C T 2: 164,405,979 (GRCm39) P92S probably benign Het
Zbtb18 A T 1: 177,275,549 (GRCm39) H303L probably benign Het
Zfp174 A T 16: 3,672,153 (GRCm39) H234L probably benign Het
Zmynd12 T C 4: 119,299,117 (GRCm39) probably null Het
Other mutations in Lrrfip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Lrrfip1 APN 1 90,996,343 (GRCm39) missense probably damaging 1.00
IGL00835:Lrrfip1 APN 1 91,043,140 (GRCm39) missense possibly damaging 0.89
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 2013-12-09