Incidental Mutation 'R0048:Lrrfip1'
ID 16212
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 038342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0048 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 90926459-91056666 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 91021369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139811 (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
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
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
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 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
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
  • 1x: 90.1%
  • 3x: 87.7%
  • 10x: 82.5%
  • 20x: 75.5%
Validation Efficiency 94% (92/98)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,140,563 (GRCm39) I299T probably benign Het
Ankrd12 A G 17: 66,291,798 (GRCm39) S1212P probably damaging Het
Ankrd50 A G 3: 38,537,198 (GRCm39) S52P probably benign Het
Aox1 A G 1: 58,112,371 (GRCm39) E715G probably damaging Het
Arid1b T C 17: 5,364,309 (GRCm39) probably null Het
Brca1 A G 11: 101,415,803 (GRCm39) V777A possibly damaging Het
Btaf1 G T 19: 36,980,924 (GRCm39) A1582S probably benign Het
Cblif G A 19: 11,727,120 (GRCm39) V110M possibly damaging Het
Ccdc184 G A 15: 98,066,341 (GRCm39) A49T probably damaging Het
Cd109 A C 9: 78,587,303 (GRCm39) Y657S possibly damaging Het
Cfap53 A T 18: 74,432,244 (GRCm39) Y44F probably benign Het
Cped1 T A 6: 22,119,601 (GRCm39) N353K probably benign Het
Dcaf10 T G 4: 45,374,262 (GRCm39) Y562* probably null Het
Eno4 T C 19: 58,952,970 (GRCm39) M328T possibly damaging Het
Etv3l T C 3: 87,462,275 (GRCm39) noncoding transcript Het
Eya2 T A 2: 165,557,931 (GRCm39) Y176N probably damaging Het
Fat2 G T 11: 55,200,865 (GRCm39) H736Q probably benign Het
Fgfr2 A T 7: 129,782,218 (GRCm39) probably benign Het
Grhl1 A T 12: 24,662,150 (GRCm39) probably benign Het
H60b T A 10: 22,163,130 (GRCm39) M235K probably benign Het
Hal T A 10: 93,334,853 (GRCm39) Y395N probably damaging Het
Hmcn2 T C 2: 31,318,249 (GRCm39) S3865P possibly damaging Het
Inpp5j A G 11: 3,451,417 (GRCm39) V463A probably damaging Het
Iqgap3 A T 3: 88,023,256 (GRCm39) T516S probably benign Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Jmjd4 C A 11: 59,344,778 (GRCm39) H244N probably benign Het
Klkb1 G A 8: 45,742,233 (GRCm39) probably benign Het
Loxhd1 A T 18: 77,496,474 (GRCm39) Y1578F probably damaging Het
Lrp2 A T 2: 69,295,971 (GRCm39) D3379E probably damaging Het
Mblac1 A G 5: 138,192,727 (GRCm39) Y23C probably damaging Het
Mfsd12 G A 10: 81,198,648 (GRCm39) V380I possibly damaging Het
Mroh9 G A 1: 162,890,056 (GRCm39) T227M probably damaging Het
Mtor C T 4: 148,623,338 (GRCm39) Q2063* probably null Het
Ncstn A G 1: 171,897,528 (GRCm39) probably benign Het
Nek9 T C 12: 85,348,673 (GRCm39) T954A probably benign Het
Nlrc5 A T 8: 95,201,284 (GRCm39) Y126F possibly damaging Het
Nr1d1 A G 11: 98,661,304 (GRCm39) S321P probably benign Het
Or13c3 C A 4: 52,856,196 (GRCm39) A106S probably damaging Het
Pkn2 T C 3: 142,516,588 (GRCm39) I513V probably damaging Het
Pls1 T C 9: 95,669,116 (GRCm39) E35G probably damaging Het
Polr3a A G 14: 24,519,323 (GRCm39) probably benign Het
Ptgfr A G 3: 151,540,728 (GRCm39) V260A possibly damaging Het
Rabgap1l A G 1: 160,454,939 (GRCm39) probably benign Het
Raph1 T C 1: 60,539,764 (GRCm39) K423E probably benign Het
Rbm27 A G 18: 42,431,529 (GRCm39) D112G probably benign Het
Rbm46 A T 3: 82,771,537 (GRCm39) S359R probably damaging Het
Rhobtb3 A T 13: 76,050,364 (GRCm39) *100R probably null Het
Ryr2 T C 13: 11,610,670 (GRCm39) E4052G probably damaging Het
Sart3 G T 5: 113,893,458 (GRCm39) D346E possibly damaging Het
Sgsm1 A G 5: 113,416,616 (GRCm39) F629S probably damaging Het
Siglec1 T C 2: 130,915,317 (GRCm39) T1425A possibly damaging Het
Slc12a2 A T 18: 58,048,594 (GRCm39) probably benign Het
Slc38a10 G T 11: 120,001,138 (GRCm39) P561T probably benign Het
Slc45a4 A G 15: 73,477,285 (GRCm39) probably benign Het
Snx25 A T 8: 46,558,146 (GRCm39) probably benign Het
Son T A 16: 91,455,865 (GRCm39) H1537Q possibly damaging Het
Synpo2l A T 14: 20,716,340 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,174,269 (GRCm39) Y846H probably damaging Het
Tgfb1 T A 7: 25,393,779 (GRCm39) probably benign Het
Tigd2 C A 6: 59,188,369 (GRCm39) T412K possibly damaging Het
Umodl1 A T 17: 31,187,451 (GRCm39) N172Y probably damaging Het
Urah C T 7: 140,416,665 (GRCm39) T46I probably damaging Het
Usp8 C T 2: 126,579,809 (GRCm39) P353L probably damaging Het
Vamp2 A G 11: 68,980,585 (GRCm39) D51G possibly damaging Het
Vps13a A T 19: 16,653,504 (GRCm39) V1959E probably damaging Het
Wdr76 C T 2: 121,365,900 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,569,729 (GRCm39) V452M probably damaging Het
Zbtb41 A G 1: 139,369,572 (GRCm39) K650E probably damaging Het
Zfp532 A G 18: 65,777,404 (GRCm39) Y887C probably damaging 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
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 2013-01-08