Incidental Mutation 'R4089:Lrig1'
ID 317504
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 040982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4089 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 94581510-94677139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94586840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 612 (I612T)
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: I612T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: I612T

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: I612T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: I612T

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 possibly damaging
Transcript: ENSMUST00000204645
AA Change: I612T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: I612T

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
Meta Mutation Damage Score 0.7006 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Actr5 T C 2: 158,467,022 (GRCm39) probably benign Het
Arhgef17 T A 7: 100,533,006 (GRCm39) E1173V probably damaging Het
Brca1 T C 11: 101,415,002 (GRCm39) N1044S possibly damaging Het
Cap1 A G 4: 122,756,202 (GRCm39) V398A probably benign Het
Cbs A C 17: 31,851,980 (GRCm39) C8G probably benign Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dip2a T C 10: 76,114,323 (GRCm39) probably null Het
Dock9 A T 14: 121,820,883 (GRCm39) C1494S probably damaging Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fbn2 C T 18: 58,186,841 (GRCm39) D1687N probably benign Het
Flt1 C A 5: 147,501,051 (GRCm39) L1327F probably benign Het
Frem3 T C 8: 81,341,802 (GRCm39) F1365S probably damaging Het
Gigyf2 A G 1: 87,371,394 (GRCm39) E1169G probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm14443 T C 2: 175,013,685 (GRCm39) Y29C probably damaging Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Ifngr1 T C 10: 19,477,233 (GRCm39) probably null Het
Il31ra C T 13: 112,688,453 (GRCm39) W41* probably null Het
Ints4 T A 7: 97,178,462 (GRCm39) Y687* probably null Het
Jpt2 A G 17: 25,175,076 (GRCm39) S37P probably benign Het
Kcnk9 A G 15: 72,418,112 (GRCm39) V6A probably benign Het
Lamc3 C T 2: 31,810,520 (GRCm39) R797* probably null Het
Mapk4 C A 18: 74,063,530 (GRCm39) C564F probably damaging Het
Marveld2 T A 13: 100,736,988 (GRCm39) H215L probably benign Het
Mindy3 T C 2: 12,369,327 (GRCm39) M84V probably benign Het
Nek3 T C 8: 22,639,929 (GRCm39) D182G probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Pkp3 G A 7: 140,664,056 (GRCm39) R411H probably damaging Het
Plau A G 14: 20,891,134 (GRCm39) D366G probably damaging Het
Prkd3 A G 17: 79,278,817 (GRCm39) M423T possibly damaging Het
Prmt9 A T 8: 78,299,174 (GRCm39) I623L probably benign Het
Rgs6 A T 12: 83,110,261 (GRCm39) E175D probably damaging Het
Rnf135 G A 11: 80,089,872 (GRCm39) G403S probably damaging Het
Scn11a C T 9: 119,624,719 (GRCm39) probably null Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Sox10 C T 15: 79,040,563 (GRCm39) V165M possibly damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Tex14 A G 11: 87,403,029 (GRCm39) D533G probably damaging Het
Topbp1 T C 9: 103,201,700 (GRCm39) probably null Het
Trim30d T C 7: 104,137,007 (GRCm39) N66D probably damaging Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Trip4 A G 9: 65,765,565 (GRCm39) V378A probably benign Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Washc2 A T 6: 116,233,253 (GRCm39) probably null 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
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
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'- ACCTAAGACTGTGAGGGTAGC -3'
(R):5'- AGCCTTCCGAGAGTGCTTAG -3'

Sequencing Primer
(F):5'- TTGGCTGAAACCGAGCCTG -3'
(R):5'- GCACCAGGCTATAGCAATAGG -3'
Posted On 2015-05-15