Incidental Mutation 'R3001:Lrig1'
ID 257322
Institutional Source Beutler Lab
Gene Symbol Lrig1
Ensembl Gene ENSMUSG00000030029
Gene Name leucine-rich repeats and immunoglobulin-like domains 1
Synonyms LIG-1, Img
MMRRC Submission 040530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3001 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 94581510-94677139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94585758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 810 (S810L)
Ref Sequence ENSEMBL: ENSMUSP00000144963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032105] [ENSMUST00000061118] [ENSMUST00000101126] [ENSMUST00000204235] [ENSMUST00000204645] [ENSMUST00000204764]
AlphaFold P70193
Predicted Effect probably damaging
Transcript: ENSMUST00000032105
AA Change: S810L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: S810L

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 probably benign
Transcript: ENSMUST00000061118
SMART Domains Protein: ENSMUSP00000058028
Gene: ENSMUSG00000045100

DomainStartEndE-ValueType
Pfam:Mito_carr 2 82 7e-14 PFAM
Pfam:Mito_carr 84 173 4e-16 PFAM
Pfam:Mito_carr 176 269 2.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101126
AA Change: S810L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: S810L

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: ENSMUST00000183891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203876
Predicted Effect probably benign
Transcript: ENSMUST00000204235
SMART Domains Protein: ENSMUSP00000145328
Gene: ENSMUSG00000045100

DomainStartEndE-ValueType
Pfam:Mito_carr 2 43 2.7e-7 PFAM
Pfam:Mito_carr 38 82 8.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204645
AA Change: S810L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: S810L

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 probably benign
Transcript: ENSMUST00000204764
SMART Domains Protein: ENSMUSP00000144816
Gene: ENSMUSG00000045100

DomainStartEndE-ValueType
Pfam:Mito_carr 2 44 1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205173
Meta Mutation Damage Score 0.4044 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (47/48)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T C 1: 85,973,802 (GRCm39) W40R possibly damaging Het
A2m A G 6: 121,638,406 (GRCm39) S873G possibly damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adcy6 T C 15: 98,494,541 (GRCm39) T767A probably benign Het
Bnip3 T C 7: 138,496,430 (GRCm39) I93V probably benign Het
Casq2 A G 3: 102,052,517 (GRCm39) D269G probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Chrd T G 16: 20,556,195 (GRCm39) Y585* probably null Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Dnai2 C T 11: 114,641,297 (GRCm39) P374L probably damaging Het
Eif4g1 T A 16: 20,511,134 (GRCm39) F1289I probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Fasn T C 11: 120,700,671 (GRCm39) D2114G probably benign Het
Fbxl17 T A 17: 63,532,072 (GRCm39) E590D probably damaging Het
Flnb G T 14: 7,907,162 (GRCm38) R1245L probably benign Het
Folh1 A C 7: 86,372,519 (GRCm39) I678M probably damaging Het
Hal G A 10: 93,343,381 (GRCm39) A542T probably damaging Het
Hs3st2 T A 7: 121,099,910 (GRCm39) M252K probably damaging Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klhdc1 T A 12: 69,302,983 (GRCm39) V173D possibly damaging Het
Knop1 CTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTC 7: 118,451,672 (GRCm39) probably benign Het
Krt71 C T 15: 101,648,906 (GRCm39) probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lnx2 A G 5: 146,955,825 (GRCm39) V657A probably benign Het
Lyst A T 13: 13,871,290 (GRCm39) M2676L probably benign Het
Mindy4 T A 6: 55,195,349 (GRCm39) S188T probably benign Het
Mrgprb3 C T 7: 48,293,232 (GRCm39) M106I probably benign Het
Ncam1 A G 9: 49,468,526 (GRCm39) I311T probably damaging Het
Ndufa8 T A 2: 35,926,571 (GRCm39) E155V possibly damaging Het
Nr4a1 A G 15: 101,168,853 (GRCm39) probably null Het
Or2a12 A G 6: 42,904,888 (GRCm39) H241R probably damaging Het
Orc3 T C 4: 34,571,790 (GRCm39) T660A probably benign Het
Otub2 T C 12: 103,370,536 (GRCm39) S273P probably damaging Het
Otulinl T C 15: 27,664,792 (GRCm39) T55A probably benign Het
Phf11c A G 14: 59,622,289 (GRCm39) L241P probably damaging Het
Pik3ca T A 3: 32,516,946 (GRCm39) I1058N probably damaging Het
Pkd2l1 A G 19: 44,143,996 (GRCm39) F359S possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Polr1a T A 6: 71,942,628 (GRCm39) V1156E probably benign Het
Polr1a A G 6: 71,890,000 (GRCm39) N73S probably benign Het
Pon2 A G 6: 5,268,976 (GRCm39) probably null Het
Ptcd1 G A 5: 145,096,386 (GRCm39) L236F probably damaging Het
Rgl2 A G 17: 34,151,579 (GRCm39) I208V probably benign Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Sacm1l T C 9: 123,414,149 (GRCm39) probably benign Het
Sec14l5 A G 16: 4,989,746 (GRCm39) Y230C probably damaging Het
Sele G T 1: 163,881,140 (GRCm39) G447C probably damaging Het
Slc17a1 G A 13: 24,062,564 (GRCm39) probably null Het
Slc2a4 A T 11: 69,836,751 (GRCm39) Y159* probably null Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Tdrd1 C A 19: 56,850,182 (GRCm39) Y981* probably null Het
Tex15 T C 8: 34,064,556 (GRCm39) Y1329H probably benign Het
Tgif2 C G 2: 156,686,114 (GRCm39) S2W probably damaging Het
Thoc5 A G 11: 4,878,688 (GRCm39) M620V probably benign Het
Tmeff2 C T 1: 51,220,994 (GRCm39) A323V probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A C 4: 3,569,588 (GRCm39) L34W probably damaging Het
Tmtc4 A T 14: 123,170,230 (GRCm39) probably null Het
Trpm2 A T 10: 77,766,368 (GRCm39) probably null Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Tyk2 C A 9: 21,020,617 (GRCm39) R938L probably benign Het
Usp33 A T 3: 152,063,579 (GRCm39) T18S probably damaging Het
V1rd19 A T 7: 23,703,310 (GRCm39) I259F probably benign Het
Vmn2r24 A C 6: 123,781,231 (GRCm39) Q479P probably benign Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Wfdc6a C T 2: 164,422,225 (GRCm39) V125I probably benign Het
Xpo7 A G 14: 70,930,085 (GRCm39) probably benign Het
Zkscan17 A G 11: 59,378,077 (GRCm39) C369R probably damaging 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
IGL02274:Lrig1 APN 6 94,640,919 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- AGTCCCAACTCTACAGGCAG -3'
(R):5'- TTTCACTCCAGGCAACCAG -3'

Sequencing Primer
(F):5'- CAGGCAGAGTCCATATTCCTAAATG -3'
(R):5'- CCAGCTGCTGGTTGTTCAGAATG -3'
Posted On 2015-01-11