Incidental Mutation 'R8006:Lrrfip1'
ID 616607
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 046046-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 90926459-91056666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91004673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 70 (Y70C)
Ref Sequence ENSEMBL: ENSMUSP00000141024 (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 damaging
Transcript: ENSMUST00000068167
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
AA Change: Y60C

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 damaging
Transcript: ENSMUST00000097650
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
AA Change: Y60C

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: Y70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
AA Change: Y70C

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 damaging
Transcript: ENSMUST00000189505
AA Change: Y70C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141024
Gene: ENSMUSG00000026305
AA Change: Y70C

DomainStartEndE-ValueType
Pfam:DUF2051 33 306 7.2e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189617
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: Y60C

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T A 8: 41,248,944 (GRCm39) H351Q probably benign Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Akap13 T C 7: 75,229,444 (GRCm39) S126P probably damaging Het
Akip1 A G 7: 109,303,199 (GRCm39) D14G probably damaging Het
Ankhd1 A G 18: 36,781,772 (GRCm39) R287G Het
Ankrd13a A C 5: 114,942,484 (GRCm39) *589S probably null Het
Ankrd34c T C 9: 89,611,889 (GRCm39) I151V probably damaging Het
Ano5 T A 7: 51,243,518 (GRCm39) D880E probably benign Het
Arl3 A C 19: 46,546,813 (GRCm39) L4R probably damaging Het
Ate1 T A 7: 130,069,118 (GRCm39) Q340L probably damaging Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr3 C T 9: 108,706,306 (GRCm39) P930S probably damaging Het
Cfhr4 A G 1: 139,664,590 (GRCm39) Y490H probably damaging Het
Cox18 C T 5: 90,371,672 (GRCm39) V43M probably damaging Het
Ctnna3 A G 10: 63,417,790 (GRCm39) K176R probably benign Het
Fam135b T C 15: 71,334,183 (GRCm39) T1004A probably benign Het
Fam227a A G 15: 79,518,299 (GRCm39) I335T possibly damaging Het
Gm14496 A G 2: 181,637,669 (GRCm39) I248V probably benign Het
Gm6871 T C 7: 41,195,106 (GRCm39) T544A probably benign Het
Grm6 A T 11: 50,755,484 (GRCm39) *872L probably null Het
Herc1 T A 9: 66,352,842 (GRCm39) Y2109* probably null Het
Hsd11b2 T A 8: 106,245,735 (GRCm39) V80E possibly damaging Het
Itgb3 T C 11: 104,556,322 (GRCm39) V721A possibly damaging Het
Jade1 A T 3: 41,568,124 (GRCm39) I731L probably benign Het
Khnyn G A 14: 56,125,047 (GRCm39) V434I probably benign Het
Lrp1 A G 10: 127,425,488 (GRCm39) L714P probably damaging Het
Lrrc41 G A 4: 115,952,085 (GRCm39) E585K possibly damaging Het
Mex3a T A 3: 88,444,393 (GRCm39) C490S probably damaging Het
Mmp27 C T 9: 7,578,985 (GRCm39) R387C probably damaging Het
Mro A T 18: 74,010,577 (GRCm39) D219V possibly damaging Het
Myot T A 18: 44,487,904 (GRCm39) L407Q probably damaging Het
Nppa T A 4: 148,085,638 (GRCm39) W82R probably damaging Het
Or10g6 T G 9: 39,933,770 (GRCm39) L27R probably damaging Het
Or52a20 T A 7: 103,366,532 (GRCm39) C244S probably damaging Het
Or5ak24 T C 2: 85,260,318 (GRCm39) N285S probably damaging Het
Phip T A 9: 82,772,179 (GRCm39) I1123L possibly damaging Het
Ppip5k2 A G 1: 97,661,831 (GRCm39) I695T probably benign Het
Ppp1r10 A T 17: 36,239,158 (GRCm39) M347L probably benign Het
Reln A T 5: 22,104,082 (GRCm39) C3296* probably null Het
Semp2l1 T A 1: 32,586,005 (GRCm39) probably benign Het
Slf2 T A 19: 44,930,756 (GRCm39) L611Q probably damaging Het
Spire1 G A 18: 67,634,251 (GRCm39) Q396* probably null Het
Taf2 A G 15: 54,912,097 (GRCm39) F537L probably damaging Het
Tbc1d16 C T 11: 119,046,898 (GRCm39) E451K probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tmem267 T A 13: 120,070,774 (GRCm39) V143E probably damaging Het
Tyw1 C T 5: 130,296,913 (GRCm39) R177W possibly damaging Het
Vcp A T 4: 42,985,993 (GRCm39) H340Q probably benign Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Wnk4 A G 11: 101,159,182 (GRCm39) D533G probably benign Het
Wwp1 A T 4: 19,650,174 (GRCm39) C331S probably benign Het
Zik1 A T 7: 10,224,100 (GRCm39) C332* 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
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
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'- CAGATGAGTGCTTTGCCTTG -3'
(R):5'- ACCAGATGCAGAATGCCCTG -3'

Sequencing Primer
(F):5'- ACTACCTCGCTGCTTAGGAAATGG -3'
(R):5'- CAGAATGCCCTGAGGAAGACC -3'
Posted On 2020-01-23