Incidental Mutation 'R7205:Lrrfip1'
ID 560485
Institutional Source Beutler Lab
Gene Symbol Lrrfip1
Ensembl Gene ENSMUSG00000026305
Gene Name leucine rich repeat (in FLII) interacting protein 1
Synonyms FLAP (FLI LRR associated protein), Fliiap1
MMRRC Submission 045283-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7205 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 90926459-91056666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91019338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 156 (D156E)
Ref Sequence ENSEMBL: ENSMUSP00000095255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068116] [ENSMUST00000068167] [ENSMUST00000097649] [ENSMUST00000097650] [ENSMUST00000185531] [ENSMUST00000186762] [ENSMUST00000189505] [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
AA Change: D156E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
AA Change: D156E

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
SMART Domains Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305

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
AA Change: D156E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
AA Change: D156E

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
AA Change: D201E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
AA Change: D201E

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 probably benign
Transcript: ENSMUST00000186762
SMART Domains Protein: ENSMUSP00000139902
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 23 98 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189505
SMART Domains Protein: ENSMUSP00000141024
Gene: ENSMUSG00000026305

DomainStartEndE-ValueType
Pfam:DUF2051 33 306 7.2e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189617
AA Change: D191E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: D191E

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
Meta Mutation Damage Score 0.0876 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (99/102)
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,993,587 (GRCm39) K1269M possibly damaging Het
Adgrl2 A T 3: 148,564,585 (GRCm39) Y332N probably damaging Het
Adgrv1 C T 13: 81,627,777 (GRCm39) V3695I probably benign Het
Aldh1l1 A T 6: 90,575,257 (GRCm39) Y848F probably damaging Het
Ambra1 T C 2: 91,598,103 (GRCm39) V88A possibly damaging Het
Ankrd12 C T 17: 66,292,160 (GRCm39) R1091Q probably damaging Het
Apob T G 12: 8,055,087 (GRCm39) V1362G probably damaging Het
Arhgap17 A G 7: 122,905,661 (GRCm39) L328P probably damaging Het
Arhgap27 A C 11: 103,235,367 (GRCm39) V9G probably benign Het
Arhgap33 A T 7: 30,232,434 (GRCm39) D34E probably damaging Het
Ash1l A G 3: 88,873,259 (GRCm39) D14G probably benign Het
Atf6b T C 17: 34,872,703 (GRCm39) Y575H probably damaging Het
Bcl2l2 T G 14: 55,122,058 (GRCm39) S74A probably benign Het
Begain T C 12: 109,004,794 (GRCm39) T73A possibly damaging Het
Bicdl1 C T 5: 115,808,340 (GRCm39) R264Q probably damaging Het
Ccdc180 A G 4: 45,914,588 (GRCm39) D701G probably benign Het
Cd200r4 G T 16: 44,653,529 (GRCm39) V146L probably damaging Het
Cd226 G A 18: 89,265,322 (GRCm39) C200Y probably damaging Het
Cdcp3 T C 7: 130,879,352 (GRCm39) probably null Het
Cdhr18 T C 14: 13,866,032 (GRCm38) T286A Het
Cdk12 A G 11: 98,115,451 (GRCm39) N864S unknown Het
Cfhr4 A T 1: 139,680,788 (GRCm39) Y243* probably null Het
Clcnkb A T 4: 141,135,946 (GRCm39) L413Q probably damaging Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Cnn1 T A 9: 22,017,078 (GRCm39) probably null Het
Cpa5 C A 6: 30,630,829 (GRCm39) Q364K probably benign Het
Cstdc5 T C 16: 36,187,809 (GRCm39) I19V probably benign Het
Ddx11 A G 17: 66,437,766 (GRCm39) E164G probably benign Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Drc7 T A 8: 95,804,549 (GRCm39) Y855N probably damaging Het
Fam20b C A 1: 156,529,968 (GRCm39) probably null Het
Fip1l1 T A 5: 74,748,736 (GRCm39) probably null Het
Flt4 A G 11: 49,525,125 (GRCm39) D657G probably null Het
Fmo3 T A 1: 162,781,857 (GRCm39) T499S possibly damaging Het
Fyco1 C T 9: 123,651,491 (GRCm39) G1190S probably benign Het
Galnt17 C A 5: 131,335,590 (GRCm39) probably benign Het
Ggcx T C 6: 72,404,987 (GRCm39) I465T probably damaging Het
Gm7361 T A 5: 26,466,116 (GRCm39) N159K probably damaging Het
Golgb1 A G 16: 36,695,663 (GRCm39) N54S unknown Het
Grin2c G A 11: 115,141,876 (GRCm39) P848S probably damaging Het
Grina T C 15: 76,133,287 (GRCm39) V285A probably damaging Het
Gtpbp6 A G 5: 110,252,478 (GRCm39) L381P probably damaging Het
Herc2 G T 7: 55,832,388 (GRCm39) G3028V probably damaging Het
Ibsp A T 5: 104,458,297 (GRCm39) Y278F probably damaging Het
Ints4 T A 7: 97,184,433 (GRCm39) L846* probably null Het
Kif17 A G 4: 138,021,077 (GRCm39) K849E probably benign Het
Krt77 G A 15: 101,777,806 (GRCm39) P83L probably benign Het
Ky T G 9: 102,419,491 (GRCm39) D499E probably damaging Het
Lrp3 A T 7: 34,902,051 (GRCm39) M610K probably damaging Het
Map6 C A 7: 98,918,257 (GRCm39) H343Q probably benign Het
Micu2 G T 14: 58,191,606 (GRCm39) D148E probably benign Het
Mks1 T A 11: 87,747,428 (GRCm39) S153T probably benign Het
Msantd5f3 A G 4: 73,573,157 (GRCm39) Y132C probably damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myh9 T C 15: 77,667,672 (GRCm39) K587R probably benign Het
Neb T C 2: 52,086,368 (GRCm39) Y5478C probably damaging Het
Nelfe G A 17: 35,069,912 (GRCm39) probably null Het
Nps T A 7: 134,870,510 (GRCm39) L11I probably damaging Het
Nsd1 A T 13: 55,394,283 (GRCm39) D731V probably damaging Het
Nup50 A G 15: 84,817,859 (GRCm39) T93A probably benign Het
Nup98 A T 7: 101,844,248 (GRCm39) F29Y unknown Het
Oprd1 A G 4: 131,841,112 (GRCm39) I282T probably damaging Het
Or4c103 T C 2: 88,513,767 (GRCm39) H103R possibly damaging Het
Or5p50 T C 7: 107,421,782 (GRCm39) N298S probably benign Het
Or6b3 A T 1: 92,439,573 (GRCm39) M59K probably benign Het
Or6d12 A G 6: 116,492,936 (GRCm39) Y66C probably damaging Het
Osbp2 T C 11: 3,662,134 (GRCm39) I240V probably damaging Het
Otub2 C A 12: 103,359,163 (GRCm39) P84Q probably benign Het
Parp9 A T 16: 35,777,360 (GRCm39) I435F probably benign Het
Pcdh18 C T 3: 49,709,923 (GRCm39) R464H probably benign Het
Pcsk6 G T 7: 65,675,156 (GRCm39) probably null Het
Ptgs2 G A 1: 149,978,512 (GRCm39) R208Q probably benign Het
Rab11b G A 17: 33,968,841 (GRCm39) R51C probably damaging Het
Rad1 A G 15: 10,493,343 (GRCm39) I257V probably benign Het
Rbms3 C T 9: 116,415,085 (GRCm39) probably null Het
Rxfp2 A T 5: 149,983,364 (GRCm39) I300L probably benign Het
Rxfp2 C A 5: 149,983,368 (GRCm39) T301K probably benign Het
Sars2 G T 7: 28,443,733 (GRCm39) A112S probably benign Het
Scn10a T C 9: 119,442,616 (GRCm39) D1543G probably damaging Het
Serpinb1b A G 13: 33,271,406 (GRCm39) H59R probably benign Het
Sgsm2 T A 11: 74,745,319 (GRCm39) D661V possibly damaging Het
Smad6 C A 9: 63,927,688 (GRCm39) V207L probably damaging Het
Son TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,183 (GRCm39) probably benign Het
Spata31h1 A T 10: 82,125,161 (GRCm39) D2616E probably benign Het
Tenm2 C T 11: 35,939,956 (GRCm39) R1390Q probably damaging Het
Tmem132a T A 19: 10,844,295 (GRCm39) Q101L probably damaging Het
Tmem151a A G 19: 5,132,801 (GRCm39) V135A probably damaging Het
Trappc10 T C 10: 78,046,262 (GRCm39) K443E probably damaging Het
Trrap A T 5: 144,779,517 (GRCm39) N3161I possibly damaging Het
Tspan32 G T 7: 142,558,863 (GRCm39) R6L possibly damaging Het
Tut7 C G 13: 59,936,364 (GRCm39) D1246H probably damaging Het
Ugt2a2 T C 5: 87,608,468 (GRCm39) D457G possibly damaging Het
Ulk2 A T 11: 61,725,657 (GRCm39) S140T possibly damaging Het
Upf1 C T 8: 70,792,695 (GRCm39) A338T possibly damaging Het
Usp43 C T 11: 67,774,110 (GRCm39) R460Q probably null Het
Uxs1 A G 1: 43,856,118 (GRCm39) probably benign Het
Vmn1r59 A G 7: 5,457,725 (GRCm39) C12R probably damaging Het
Wdr64 A G 1: 175,617,499 (GRCm39) D693G probably benign Het
Wnk1 A T 6: 119,920,839 (GRCm39) probably null Het
Wnt2 G T 6: 18,028,046 (GRCm39) R63S probably benign Het
Zfp418 A T 7: 7,184,562 (GRCm39) Q175L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCTCCGAAGAGCTGAAGAGAG -3'
(R):5'- CAGACAATGCCCAGCTAAGG -3'

Sequencing Primer
(F):5'- AGAGTGGTGTAGAGCCTGC -3'
(R):5'- CAAGCGAAAATTTCCTGATTCCATC -3'
Posted On 2019-06-26