Incidental Mutation 'IGL02274:Lrig1'
ID 287280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrig1
Ensembl Gene ENSMUSG00000030029
Gene Name leucine-rich repeats and immunoglobulin-like domains 1
Synonyms LIG-1, Img
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02274
Quality Score
Status
Chromosome 6
Chromosomal Location 94581510-94677139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94640919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 95 (N95K)
Ref Sequence ENSEMBL: ENSMUSP00000144963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032105] [ENSMUST00000101126] [ENSMUST00000204645]
AlphaFold P70193
Predicted Effect possibly damaging
Transcript: ENSMUST00000032105
AA Change: N95K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: N95K

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
LRRNT 42 74 5.82e-6 SMART
LRR 68 92 4.83e0 SMART
LRR 93 115 9.96e-1 SMART
LRR 142 163 6.22e0 SMART
LRR 166 187 1.81e1 SMART
LRR 190 212 5.72e0 SMART
LRR 213 235 1.06e1 SMART
LRR_TYP 236 259 2.79e-4 SMART
LRR 260 283 2.54e1 SMART
LRR 284 307 9.96e-1 SMART
LRR 308 331 4.21e1 SMART
LRR_TYP 332 355 8.6e-5 SMART
LRR 356 382 1.06e1 SMART
LRR 383 406 9.96e-1 SMART
LRR_TYP 407 430 3.34e-2 SMART
LRRCT 442 492 3.5e-15 SMART
IGc2 509 586 1.34e-4 SMART
IGc2 613 681 2.87e-13 SMART
IGc2 707 772 6.44e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000101126
AA Change: N95K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: N95K

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
LRRNT 42 74 5.82e-6 SMART
LRR 68 92 4.83e0 SMART
LRR 93 115 9.96e-1 SMART
LRR 142 163 6.22e0 SMART
LRR 166 187 1.81e1 SMART
LRR 190 212 5.72e0 SMART
LRR 213 235 1.06e1 SMART
LRR_TYP 236 259 2.79e-4 SMART
LRR 260 283 2.54e1 SMART
LRR 284 307 9.96e-1 SMART
LRR 308 331 4.21e1 SMART
LRR_TYP 332 355 8.6e-5 SMART
LRR 356 382 1.06e1 SMART
LRR 383 406 9.96e-1 SMART
LRR_TYP 407 430 3.34e-2 SMART
LRRCT 442 492 3.5e-15 SMART
IGc2 509 586 1.34e-4 SMART
IGc2 613 681 2.87e-13 SMART
IGc2 707 772 6.44e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141014
Predicted Effect possibly damaging
Transcript: ENSMUST00000204645
AA Change: N95K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: N95K

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
LRRNT 42 74 5.82e-6 SMART
LRR 68 92 4.83e0 SMART
LRR 93 115 9.96e-1 SMART
LRR 142 163 6.22e0 SMART
LRR 166 187 1.81e1 SMART
LRR 190 212 5.72e0 SMART
LRR 213 235 1.06e1 SMART
LRR_TYP 236 259 2.79e-4 SMART
LRR 260 283 2.54e1 SMART
LRR 284 307 9.96e-1 SMART
LRR 308 331 4.21e1 SMART
LRR_TYP 332 355 8.6e-5 SMART
LRR 356 382 1.06e1 SMART
LRR 383 406 9.96e-1 SMART
LRR_TYP 407 430 3.34e-2 SMART
LRRCT 442 492 3.5e-15 SMART
IGc2 509 586 1.34e-4 SMART
IGc2 613 681 2.87e-13 SMART
IGc2 707 772 6.44e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice developed psoriasiform epidermal hyperplasia. Homozygotes exhibit hair follicle, epidermis, vertebral, eye and hearing abnormalities, decreased body size and fat amount, and increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(4) Gene trapped(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,997,205 (GRCm39) D48G probably damaging Het
Asnsd1 T C 1: 53,386,734 (GRCm39) I298V probably benign Het
Cacna2d3 G T 14: 28,678,827 (GRCm39) probably null Het
Cbs T C 17: 31,844,922 (GRCm39) probably null Het
Ccm2 C A 11: 6,540,808 (GRCm39) T216K probably damaging Het
Galc C T 12: 98,220,473 (GRCm39) W131* probably null Het
Gemin5 T C 11: 58,047,621 (GRCm39) R318G possibly damaging Het
Gsta3 T G 1: 21,320,012 (GRCm39) V6G possibly damaging Het
Hdlbp A T 1: 93,336,229 (GRCm39) probably null Het
Igkv13-55-1 T G 6: 69,577,132 (GRCm39) noncoding transcript Het
Il17rd A G 14: 26,821,867 (GRCm39) Y387C probably damaging Het
Katnip A G 7: 125,369,742 (GRCm39) probably null Het
Kmt2e C T 5: 23,705,758 (GRCm39) T1344I probably benign Het
L3mbtl4 A C 17: 69,071,579 (GRCm39) H502P probably benign Het
Neurl2 G T 2: 164,675,012 (GRCm39) R117S probably damaging Het
Nos1 G A 5: 118,035,845 (GRCm39) A449T probably damaging Het
Noxa1 A T 2: 24,975,767 (GRCm39) V435E probably benign Het
Parp9 C T 16: 35,768,317 (GRCm39) R166W probably damaging Het
Pdzd2 A G 15: 12,445,735 (GRCm39) I158T probably damaging Het
Pip5k1c T C 10: 81,142,218 (GRCm39) Y143H probably damaging Het
Qrfpr A G 3: 36,276,285 (GRCm39) V35A probably damaging Het
Rab3gap1 T G 1: 127,866,817 (GRCm39) S881A probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scai G A 2: 38,992,329 (GRCm39) probably benign Het
Skic2 T A 17: 35,064,839 (GRCm39) I418F probably damaging Het
Tenm4 A C 7: 96,503,941 (GRCm39) H1300P probably damaging Het
Tmppe A G 9: 114,234,499 (GRCm39) H266R probably benign Het
Wdr11 A T 7: 129,232,896 (GRCm39) probably null Het
Xirp2 A G 2: 67,338,995 (GRCm39) E412G probably benign Het
Zan A G 5: 137,419,429 (GRCm39) V2910A unknown Het
Other mutations in Lrig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Lrig1 APN 6 94,588,385 (GRCm39) missense probably damaging 0.99
IGL01356:Lrig1 APN 6 94,586,874 (GRCm39) missense probably damaging 1.00
IGL01356:Lrig1 APN 6 94,631,901 (GRCm39) missense probably benign 0.00
IGL02001:Lrig1 APN 6 94,584,305 (GRCm39) missense probably benign 0.00
IGL02019:Lrig1 APN 6 94,593,410 (GRCm39) missense probably damaging 0.98
IGL02177:Lrig1 APN 6 94,640,977 (GRCm39) missense possibly damaging 0.76
IGL03197:Lrig1 APN 6 94,583,099 (GRCm39) missense probably benign
IGL03263:Lrig1 APN 6 94,588,628 (GRCm39) missense probably benign 0.00
IGL03327:Lrig1 APN 6 94,583,104 (GRCm39) missense probably benign 0.10
N/A - 293:Lrig1 UTSW 6 94,586,068 (GRCm39) missense probably benign
R0019:Lrig1 UTSW 6 94,584,330 (GRCm39) nonsense probably null
R0019:Lrig1 UTSW 6 94,584,330 (GRCm39) nonsense probably null
R0961:Lrig1 UTSW 6 94,640,895 (GRCm39) splice site probably benign
R1018:Lrig1 UTSW 6 94,599,583 (GRCm39) splice site probably benign
R1381:Lrig1 UTSW 6 94,583,111 (GRCm39) missense probably benign 0.04
R1473:Lrig1 UTSW 6 94,584,294 (GRCm39) missense probably benign 0.16
R1498:Lrig1 UTSW 6 94,604,968 (GRCm39) missense possibly damaging 0.89
R1888:Lrig1 UTSW 6 94,631,859 (GRCm39) missense probably benign 0.03
R1888:Lrig1 UTSW 6 94,631,859 (GRCm39) missense probably benign 0.03
R2273:Lrig1 UTSW 6 94,585,124 (GRCm39) missense probably damaging 1.00
R2513:Lrig1 UTSW 6 94,594,347 (GRCm39) splice site probably null
R3001:Lrig1 UTSW 6 94,585,758 (GRCm39) missense probably damaging 1.00
R3002:Lrig1 UTSW 6 94,585,758 (GRCm39) missense probably damaging 1.00
R3732:Lrig1 UTSW 6 94,588,557 (GRCm39) missense possibly damaging 0.86
R3732:Lrig1 UTSW 6 94,588,557 (GRCm39) missense possibly damaging 0.86
R3733:Lrig1 UTSW 6 94,588,557 (GRCm39) missense possibly damaging 0.86
R3772:Lrig1 UTSW 6 94,582,798 (GRCm39) missense probably benign 0.00
R4089:Lrig1 UTSW 6 94,586,840 (GRCm39) missense possibly damaging 0.83
R4093:Lrig1 UTSW 6 94,590,559 (GRCm39) missense probably benign 0.10
R4095:Lrig1 UTSW 6 94,590,559 (GRCm39) missense probably benign 0.10
R4225:Lrig1 UTSW 6 94,599,639 (GRCm39) missense probably damaging 1.00
R4917:Lrig1 UTSW 6 94,586,700 (GRCm39) missense probably damaging 1.00
R4951:Lrig1 UTSW 6 94,640,959 (GRCm39) missense probably damaging 1.00
R4976:Lrig1 UTSW 6 94,602,043 (GRCm39) missense probably damaging 1.00
R5000:Lrig1 UTSW 6 94,588,430 (GRCm39) missense probably damaging 1.00
R5149:Lrig1 UTSW 6 94,605,025 (GRCm39) missense possibly damaging 0.93
R5732:Lrig1 UTSW 6 94,676,520 (GRCm39) nonsense probably null
R5988:Lrig1 UTSW 6 94,605,023 (GRCm39) missense probably damaging 0.99
R6064:Lrig1 UTSW 6 94,603,428 (GRCm39) missense probably damaging 1.00
R6292:Lrig1 UTSW 6 94,593,426 (GRCm39) missense probably damaging 1.00
R6723:Lrig1 UTSW 6 94,603,386 (GRCm39) missense probably damaging 1.00
R6815:Lrig1 UTSW 6 94,602,010 (GRCm39) missense probably damaging 1.00
R6889:Lrig1 UTSW 6 94,602,044 (GRCm39) missense probably benign 0.07
R6995:Lrig1 UTSW 6 94,588,610 (GRCm39) missense possibly damaging 0.95
R7404:Lrig1 UTSW 6 94,603,452 (GRCm39) missense probably damaging 1.00
R7487:Lrig1 UTSW 6 94,583,099 (GRCm39) missense probably benign
R7732:Lrig1 UTSW 6 94,603,358 (GRCm39) missense probably benign 0.05
R7915:Lrig1 UTSW 6 94,607,082 (GRCm39) critical splice donor site probably null
R8133:Lrig1 UTSW 6 94,588,610 (GRCm39) missense possibly damaging 0.95
R8768:Lrig1 UTSW 6 94,631,840 (GRCm39) missense possibly damaging 0.88
R9045:Lrig1 UTSW 6 94,585,688 (GRCm39) critical splice donor site probably null
R9227:Lrig1 UTSW 6 94,607,113 (GRCm39) missense probably damaging 1.00
Z1176:Lrig1 UTSW 6 94,586,007 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16