Incidental Mutation 'IGL00331:Lrrfip1'
ID 7413
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 # IGL00331
Quality Score
Status
Chromosome 1
Chromosomal Location 90926459-91056666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90996343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 42 (M42T)
Ref Sequence ENSEMBL: ENSMUSP00000095255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068116] [ENSMUST00000068167] [ENSMUST00000097649] [ENSMUST00000097650] [ENSMUST00000185531] [ENSMUST00000186762] [ENSMUST00000189617] [ENSMUST00000189505]
AlphaFold Q3UZ39
Predicted Effect probably damaging
Transcript: ENSMUST00000068116
AA Change: M52T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305
AA Change: M52T

DomainStartEndE-ValueType
Pfam:DUF2051 33 354 4.1e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000068167
AA Change: M42T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
AA Change: M42T

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 damaging
Transcript: ENSMUST00000097649
AA Change: M42T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: M42T

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 damaging
Transcript: ENSMUST00000097650
AA Change: M42T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
AA Change: M42T

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 damaging
Transcript: ENSMUST00000185531
AA Change: M52T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
AA Change: M52T

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
AA Change: M42T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139902
Gene: ENSMUSG00000026305
AA Change: M42T

DomainStartEndE-ValueType
Pfam:DUF2051 23 98 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189617
AA Change: M42T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: M42T

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
Predicted Effect probably damaging
Transcript: ENSMUST00000189505
AA Change: M52T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141024
Gene: ENSMUSG00000026305
AA Change: M52T

DomainStartEndE-ValueType
Pfam:DUF2051 33 306 7.2e-78 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,320,595 (GRCm39) probably benign Het
Adamts19 T A 18: 59,140,397 (GRCm39) probably benign Het
Afg3l1 T A 8: 124,214,128 (GRCm39) F190I probably benign Het
Alms1 T A 6: 85,618,353 (GRCm39) S2800T possibly damaging Het
Alox5 A T 6: 116,392,478 (GRCm39) W348R probably damaging Het
Atp13a5 G A 16: 29,085,766 (GRCm39) Q823* probably null Het
Atp6v1b2 T C 8: 69,541,586 (GRCm39) probably null Het
Chuk T C 19: 44,076,462 (GRCm39) I416M possibly damaging Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Dmbt1 A T 7: 130,701,020 (GRCm39) Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,766 (GRCm39) T3873A probably damaging Het
Endog C T 2: 30,062,912 (GRCm39) T184M probably damaging Het
Fcgbp T C 7: 27,800,966 (GRCm39) probably benign Het
Flii A G 11: 60,606,659 (GRCm39) I1061T probably benign Het
Hdac2 T A 10: 36,873,067 (GRCm39) N308K probably damaging Het
Hoxa2 T G 6: 52,140,497 (GRCm39) Y163S probably damaging Het
Hsd3b7 T C 7: 127,402,144 (GRCm39) L263P probably damaging Het
Klf17 T C 4: 117,618,235 (GRCm39) T41A probably benign Het
Mapk8ip1 C T 2: 92,215,533 (GRCm39) V614I probably benign Het
Mocs1 T G 17: 49,742,292 (GRCm39) probably null Het
Moxd1 T C 10: 24,158,453 (GRCm39) probably benign Het
Mterf1a T C 5: 3,941,610 (GRCm39) E86G probably damaging Het
Muc4 A G 16: 32,574,613 (GRCm39) D1021G probably benign Het
Nomo1 T C 7: 45,694,760 (GRCm39) S212P possibly damaging Het
Or5b116 A G 19: 13,422,988 (GRCm39) D204G probably benign Het
Or8c15 T A 9: 38,120,534 (GRCm39) Y60N probably damaging Het
Phf21a A C 2: 92,178,374 (GRCm39) T385P probably damaging Het
Piwil4 A T 9: 14,626,327 (GRCm39) probably benign Het
Pknox1 T C 17: 31,818,619 (GRCm39) probably null Het
Prr14l T C 5: 32,988,410 (GRCm39) I362V probably benign Het
Sergef C T 7: 46,284,844 (GRCm39) probably null Het
Sez6l T C 5: 112,572,511 (GRCm39) D948G probably damaging Het
Skor1 A T 9: 63,053,723 (GRCm39) L54Q probably damaging Het
Sntn C T 14: 13,679,086 (GRCm38) Q87* probably null Het
Syde2 A G 3: 145,720,096 (GRCm39) K772E possibly damaging Het
Taf2 T A 15: 54,934,845 (GRCm39) probably null Het
Tbc1d13 T A 2: 30,030,523 (GRCm39) Y113N probably damaging Het
Tmem154 T C 3: 84,591,722 (GRCm39) F91L probably benign Het
Tmem63a A G 1: 180,794,062 (GRCm39) D533G possibly damaging Het
Tmprss15 A T 16: 78,782,882 (GRCm39) N712K possibly damaging Het
Trip12 A T 1: 84,708,262 (GRCm39) D603E probably damaging Het
Trmt11 T C 10: 30,442,445 (GRCm39) D246G probably damaging Het
Vmn1r174 T A 7: 23,453,958 (GRCm39) M208K possibly damaging Het
Wdr54 T C 6: 83,132,755 (GRCm39) H33R probably benign Het
Zfp207 A G 11: 80,279,828 (GRCm39) D111G probably benign Het
Other mutations in Lrrfip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20