Incidental Mutation 'IGL02642:Lrfn1'
ID301753
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 essential (E-score: 0.508) question?
Stock #IGL02642
Quality Score
Status
Chromosome7
Chromosomal Location28451980-28468242 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 28458688 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040486 (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 unknown
Transcript: ENSMUST00000055110
AA Change: F11L
SMART Domains Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
AA Change: F11L

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 unknown
Transcript: ENSMUST00000108288
AA Change: F11L
SMART Domains Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: F11L

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 unknown
Transcript: ENSMUST00000189877
AA Change: F11L
SMART Domains Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
AA Change: F11L

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 unknown
Transcript: ENSMUST00000190954
AA Change: F11L
SMART Domains Protein: ENSMUSP00000140537
Gene: ENSMUSG00000030600
AA Change: F11L

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,939,083 D68G probably damaging Het
Aes A T 10: 81,561,292 Q34L possibly damaging Het
Amer3 A G 1: 34,586,680 probably benign Het
Ankrd11 A G 8: 122,890,651 L2133P probably damaging Het
Bcdin3d G T 15: 99,470,792 H175Q probably damaging Het
Brd8 C A 18: 34,608,064 probably benign Het
C1rl C A 6: 124,493,847 T38N possibly damaging Het
Cd160 T C 3: 96,800,611 T140A probably benign Het
Cdk16 T G X: 20,696,928 D381E probably benign Het
Cpq G A 15: 33,381,400 G303D probably damaging Het
Dmp1 T C 5: 104,211,670 S71P probably damaging Het
Enc1 A C 13: 97,245,534 D184A possibly damaging Het
Enkur T C 2: 21,194,387 D112G probably benign Het
Esrra A T 19: 6,912,850 V59E possibly damaging Het
F830016B08Rik A G 18: 60,299,986 N47S probably benign Het
Fads1 T A 19: 10,186,421 V189D probably damaging Het
Fam160b1 A G 19: 57,385,350 N681D possibly damaging Het
Fam167a T A 14: 63,452,272 I6N probably damaging Het
Fam98b A G 2: 117,260,312 T164A probably benign Het
Fryl T A 5: 73,095,466 I953L probably benign Het
Gm10610 T A 7: 83,549,605 noncoding transcript Het
Grik5 G T 7: 25,058,983 N338K possibly damaging Het
Gstt2 A G 10: 75,832,818 I72T probably benign Het
Gusb T C 5: 130,000,535 probably null Het
Hccs A G X: 169,315,592 probably benign Het
Hoxb4 A G 11: 96,320,224 K217E probably damaging Het
Hpd C T 5: 123,181,440 V22I possibly damaging Het
Ighv1-47 A G 12: 114,991,224 Y79H probably damaging Het
Il7r C A 15: 9,513,047 probably benign Het
Lama1 A T 17: 67,812,366 M2613L probably benign Het
Lama2 G A 10: 27,467,273 H68Y probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrriq1 T A 10: 103,221,461 probably null Het
Mri1 A T 8: 84,257,073 L63Q probably damaging Het
Mrps11 G T 7: 78,788,774 probably null Het
Mtif2 C A 11: 29,544,395 Q666K probably benign Het
Mtr A T 13: 12,195,232 probably benign Het
Mug1 A G 6: 121,882,585 N1181S probably benign Het
Myom1 A T 17: 71,101,098 E1209V possibly damaging Het
Nhsl1 A G 10: 18,408,390 I26M possibly damaging Het
Nlrp1a T A 11: 71,123,532 K297N probably benign Het
Obox5 T C 7: 15,758,047 V129A probably benign Het
Pex16 C T 2: 92,376,636 A53V probably damaging Het
Pfpl T C 19: 12,429,743 F453L probably damaging Het
Pip5k1b G T 19: 24,346,367 H406N probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plcxd3 T C 15: 4,516,640 F42S possibly damaging Het
Pnpla7 T C 2: 25,050,276 F1056L probably benign Het
Rapgef1 T C 2: 29,700,860 probably benign Het
Rdh11 G A 12: 79,185,336 probably benign Het
Serac1 A G 17: 6,045,746 F576S possibly damaging Het
Slc45a4 A T 15: 73,586,815 M295K probably benign Het
Taf1c T C 8: 119,599,057 T689A probably benign Het
Timm10b G T 7: 105,668,438 probably benign Het
Tnc A T 4: 63,965,579 probably benign Het
Toporsl T C 4: 52,611,114 W336R probably benign Het
Usp54 C A 14: 20,565,072 probably benign Het
Vmn1r233 T C 17: 20,994,029 R220G probably damaging Het
Other mutations in Lrfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Lrfn1 APN 7 28460017 missense probably damaging 1.00
IGL01565:Lrfn1 APN 7 28458769 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
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
Z1176:Lrfn1 UTSW 7 28459115 missense possibly damaging 0.66
Posted On2015-04-16