Incidental Mutation 'IGL01622:Lrfn1'
ID 278621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrfn1
Ensembl Gene ENSMUSG00000030600
Gene Name leucine rich repeat and fibronectin type III domain containing 1
Synonyms SALM2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # IGL01622
Quality Score
Status
Chromosome 7
Chromosomal Location 28151405-28167667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28166111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 502 (T502A)
Ref Sequence ENSEMBL: ENSMUSP00000103923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000055110] [ENSMUST00000108288] [ENSMUST00000189877]
AlphaFold Q2WF71
Predicted Effect probably benign
Transcript: ENSMUST00000040531
SMART Domains Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

DomainStartEndE-ValueType
low complexity region 81 90 N/A INTRINSIC
low complexity region 174 190 N/A INTRINSIC
low complexity region 200 211 N/A INTRINSIC
low complexity region 278 290 N/A INTRINSIC
SAM 296 359 1.02e-9 SMART
low complexity region 406 420 N/A INTRINSIC
low complexity region 433 461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055110
SMART Domains Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
LRR 88 111 8.67e-1 SMART
LRR 112 135 4.57e0 SMART
LRR_TYP 136 159 1.69e-3 SMART
LRR 161 184 2.54e1 SMART
LRR 185 208 2.32e-1 SMART
LRR 209 233 3.75e0 SMART
LRRCT 252 297 1.36e-3 SMART
IGc2 312 377 1.51e-12 SMART
low complexity region 389 403 N/A INTRINSIC
low complexity region 460 471 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108288
AA Change: T502A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: T502A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
LRR 88 111 8.67e-1 SMART
LRR 112 135 4.57e0 SMART
LRR_TYP 136 159 1.69e-3 SMART
LRR 161 184 2.54e1 SMART
LRR 185 208 2.32e-1 SMART
LRR 209 233 3.75e0 SMART
LRRCT 252 297 1.36e-3 SMART
IGc2 312 377 1.51e-12 SMART
low complexity region 389 403 N/A INTRINSIC
FN3 422 502 2.68e-2 SMART
transmembrane domain 535 557 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 609 625 N/A INTRINSIC
low complexity region 716 725 N/A INTRINSIC
low complexity region 730 747 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189877
SMART Domains Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
LRR 88 111 8.67e-1 SMART
LRR 112 135 4.57e0 SMART
LRR_TYP 136 159 1.69e-3 SMART
LRR 161 184 2.54e1 SMART
LRR 185 208 2.32e-1 SMART
LRR 209 233 3.75e0 SMART
LRRCT 252 297 1.36e-3 SMART
IGc2 312 377 1.51e-12 SMART
low complexity region 389 403 N/A INTRINSIC
low complexity region 460 471 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Lrfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Lrfn1 APN 7 28,159,442 (GRCm39) missense probably damaging 1.00
IGL01565:Lrfn1 APN 7 28,158,194 (GRCm39) missense probably damaging 1.00
IGL01623:Lrfn1 APN 7 28,166,111 (GRCm39) missense probably damaging 1.00
IGL02176:Lrfn1 APN 7 28,158,111 (GRCm39) intron probably benign
IGL02642:Lrfn1 APN 7 28,158,113 (GRCm39) intron probably benign
R1123:Lrfn1 UTSW 7 28,166,544 (GRCm39) missense possibly damaging 0.71
R1838:Lrfn1 UTSW 7 28,159,193 (GRCm39) missense probably damaging 0.98
R3000:Lrfn1 UTSW 7 28,166,832 (GRCm39) missense probably damaging 1.00
R3551:Lrfn1 UTSW 7 28,159,479 (GRCm39) missense possibly damaging 0.90
R3905:Lrfn1 UTSW 7 28,166,294 (GRCm39) missense possibly damaging 0.49
R4246:Lrfn1 UTSW 7 28,159,367 (GRCm39) missense probably benign 0.03
R5621:Lrfn1 UTSW 7 28,166,261 (GRCm39) missense probably damaging 1.00
R6267:Lrfn1 UTSW 7 28,159,169 (GRCm39) missense probably benign 0.01
R6902:Lrfn1 UTSW 7 28,159,238 (GRCm39) missense probably benign 0.10
R7059:Lrfn1 UTSW 7 28,166,355 (GRCm39) missense possibly damaging 0.65
R7073:Lrfn1 UTSW 7 28,159,397 (GRCm39) missense possibly damaging 0.94
R7208:Lrfn1 UTSW 7 28,166,564 (GRCm39) missense probably benign
R7402:Lrfn1 UTSW 7 28,158,947 (GRCm39) missense probably damaging 1.00
R8378:Lrfn1 UTSW 7 28,159,157 (GRCm39) missense probably benign 0.26
R8791:Lrfn1 UTSW 7 28,159,344 (GRCm39) missense probably benign 0.00
R8870:Lrfn1 UTSW 7 28,158,918 (GRCm39) missense possibly damaging 0.71
R9452:Lrfn1 UTSW 7 28,159,157 (GRCm39) missense probably damaging 1.00
R9483:Lrfn1 UTSW 7 28,158,183 (GRCm39) missense probably damaging 1.00
R9579:Lrfn1 UTSW 7 28,166,769 (GRCm39) missense probably damaging 1.00
R9649:Lrfn1 UTSW 7 28,166,255 (GRCm39) missense probably damaging 1.00
Z1176:Lrfn1 UTSW 7 28,158,540 (GRCm39) missense possibly damaging 0.66
Posted On 2015-04-16