Incidental Mutation 'IGL01565:Lrfn1'
ID90971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrfn1
Ensembl Gene ENSMUSG00000030600
Gene Nameleucine rich repeat and fibronectin type III domain containing 1
SynonymsSALM2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.360) question?
Stock #IGL01565
Quality Score
Status
Chromosome7
Chromosomal Location28451980-28468242 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28458769 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 38 (C38R)
Ref Sequence ENSEMBL: ENSMUSP00000140537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000055110] [ENSMUST00000108288] [ENSMUST00000189877] [ENSMUST00000190954]
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 damaging
Transcript: ENSMUST00000055110
AA Change: C38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
AA Change: C38R

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: C38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: C38R

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 damaging
Transcript: ENSMUST00000189877
AA Change: C38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
AA Change: C38R

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: ENSMUST00000190954
AA Change: C38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140537
Gene: ENSMUSG00000030600
AA Change: C38R

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Blast:LRRNT 33 69 2e-18 BLAST
LRR 88 111 3.7e-3 SMART
LRR 112 135 1.9e-2 SMART
LRR_TYP 136 159 7.1e-6 SMART
LRR 161 184 1.1e-1 SMART
LRR 185 208 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191267
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dbil5 T G 11: 76,218,265 probably benign Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mettl2 C A 11: 105,126,538 D14E probably benign Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Ndst2 A T 14: 20,728,206 V435E probably damaging Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rdh19 T G 10: 127,859,595 M226R probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Swsap1 T A 9: 21,957,228 D265E possibly damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Tnfaip6 A G 2: 52,055,834 S231G probably damaging Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Lrfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Lrfn1 APN 7 28460017 missense probably damaging 1.00
IGL01622:Lrfn1 APN 7 28466686 missense probably damaging 1.00
IGL01623:Lrfn1 APN 7 28466686 missense probably damaging 1.00
IGL02176:Lrfn1 APN 7 28458686 intron probably benign
IGL02642:Lrfn1 APN 7 28458688 intron probably benign
R1123:Lrfn1 UTSW 7 28467119 missense possibly damaging 0.71
R1838:Lrfn1 UTSW 7 28459768 missense probably damaging 0.98
R3000:Lrfn1 UTSW 7 28467407 missense probably damaging 1.00
R3551:Lrfn1 UTSW 7 28460054 missense possibly damaging 0.90
R3905:Lrfn1 UTSW 7 28466869 missense possibly damaging 0.49
R4246:Lrfn1 UTSW 7 28459942 missense probably benign 0.03
R5621:Lrfn1 UTSW 7 28466836 missense probably damaging 1.00
R6267:Lrfn1 UTSW 7 28459744 missense probably benign 0.01
R6902:Lrfn1 UTSW 7 28459813 missense probably benign 0.10
R7059:Lrfn1 UTSW 7 28466930 missense possibly damaging 0.65
R7073:Lrfn1 UTSW 7 28459972 missense possibly damaging 0.94
R7208:Lrfn1 UTSW 7 28467139 missense probably benign
R7402:Lrfn1 UTSW 7 28459522 missense probably damaging 1.00
Posted On2013-12-09