Incidental Mutation 'R1381:Lrig1'
ID 163015
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 039443-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1381 (G1)
Quality Score 209
Status Not validated
Chromosome 6
Chromosomal Location 94581510-94677139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94583111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1002 (N1002D)
Ref Sequence ENSEMBL: ENSMUSP00000144963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032105] [ENSMUST00000061118] [ENSMUST00000101126] [ENSMUST00000204645] [ENSMUST00000204235] [ENSMUST00000204764]
AlphaFold P70193
Predicted Effect probably benign
Transcript: ENSMUST00000032105
AA Change: N1002D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: N1002D

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 benign
Transcript: ENSMUST00000101126
AA Change: N1002D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: N1002D

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: ENSMUST00000203484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203876
Predicted Effect probably benign
Transcript: ENSMUST00000204645
AA Change: N1002D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: N1002D

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: 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 noncoding transcript
Transcript: ENSMUST00000205173
Predicted Effect probably benign
Transcript: ENSMUST00000204764
SMART Domains Protein: ENSMUSP00000144816
Gene: ENSMUSG00000045100

DomainStartEndE-ValueType
Pfam:Mito_carr 2 44 1e-7 PFAM
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,561,430 (GRCm39) F252L probably benign Het
Aadac A T 3: 59,947,351 (GRCm39) M350L probably damaging Het
Agtrap G A 4: 148,168,422 (GRCm39) T19I probably damaging Het
Apba3 C T 10: 81,107,590 (GRCm39) T142M possibly damaging Het
Cd55b T A 1: 130,347,412 (GRCm39) K133I probably damaging Het
Cep295 A C 9: 15,233,861 (GRCm39) C2312G probably benign Het
Ces1a A G 8: 93,760,659 (GRCm39) V231A probably damaging Het
Chdh C A 14: 29,758,791 (GRCm39) L579I probably damaging Het
Cyb5r4 T A 9: 86,904,286 (GRCm39) S19T probably benign Het
Cyp2d22 C A 15: 82,256,709 (GRCm39) R355L probably benign Het
Dach2 T C X: 112,208,472 (GRCm39) Y117H probably damaging Het
Dennd4c G A 4: 86,692,769 (GRCm39) R93K probably benign Het
Dph2 G T 4: 117,746,865 (GRCm39) L452I probably damaging Het
Exoc6b T C 6: 84,812,099 (GRCm39) D634G probably benign Het
Fam217b G A 2: 178,062,218 (GRCm39) V61I probably benign Het
Fbln7 A C 2: 128,719,299 (GRCm39) Q32P probably damaging Het
Fgfr1op2 A G 6: 146,490,239 (GRCm39) Y46C probably damaging Het
Fhod3 T A 18: 25,223,528 (GRCm39) I958N probably damaging Het
Foxp2 T A 6: 15,409,765 (GRCm39) M455K possibly damaging Het
Gabrr2 G A 4: 33,081,420 (GRCm39) G152D probably damaging Het
Galntl6 G T 8: 58,925,989 (GRCm39) P92Q probably damaging Het
Gm5592 A T 7: 40,935,596 (GRCm39) T33S probably benign Het
Grid2ip A T 5: 143,348,406 (GRCm39) T166S probably benign Het
Grsf1 G A 5: 88,813,723 (GRCm39) S225L probably benign Het
Hadha G T 5: 30,333,834 (GRCm39) T395K probably benign Het
Hars2 C T 18: 36,922,270 (GRCm39) A295V possibly damaging Het
Hsf5 T A 11: 87,528,995 (GRCm39) S577T probably benign Het
Ice2 A G 9: 69,307,809 (GRCm39) Y31C probably damaging Het
Ift80 A T 3: 68,822,116 (GRCm39) I643N possibly damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Ilvbl C A 10: 78,412,430 (GRCm39) S50R probably damaging Het
Invs C A 4: 48,421,942 (GRCm39) S858* probably null Het
Ipo13 T G 4: 117,761,592 (GRCm39) T508P probably damaging Het
Itgb4 T C 11: 115,885,163 (GRCm39) I1015T probably benign Het
Kank4 A T 4: 98,668,175 (GRCm39) W91R probably damaging Het
Kansl1l C T 1: 66,760,063 (GRCm39) A906T probably benign Het
Klk4 G A 7: 43,534,706 (GRCm39) V222M probably damaging Het
Lipo4 T A 19: 33,476,741 (GRCm39) M336L probably benign Het
Lzts3 A G 2: 130,477,219 (GRCm39) S524P probably damaging Het
Maz A T 7: 126,622,324 (GRCm39) C409* probably null Het
Mmp24 A T 2: 155,656,047 (GRCm39) Q495L possibly damaging Het
Mrgpra9 C T 7: 46,885,050 (GRCm39) V206I possibly damaging Het
Myof A G 19: 37,983,933 (GRCm39) Y124H probably damaging Het
Nalcn A T 14: 123,551,517 (GRCm39) V1030D probably damaging Het
Neb T A 2: 52,150,544 (GRCm39) I2495F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nup153 T C 13: 46,842,657 (GRCm39) D837G probably damaging Het
Nup210 C A 6: 91,052,942 (GRCm39) G331V probably damaging Het
Or5b97 T C 19: 12,878,320 (GRCm39) T275A probably benign Het
Or5w18 T C 2: 87,633,480 (GRCm39) L245P probably damaging Het
Or6z7 A G 7: 6,484,008 (GRCm39) probably null Het
Or8b56 T A 9: 38,739,634 (GRCm39) S210T probably benign Het
Pabpc4 T A 4: 123,182,852 (GRCm39) L163H probably damaging Het
Pcdh7 T A 5: 57,878,882 (GRCm39) Y126* probably null Het
Pdzd2 A G 15: 12,385,525 (GRCm39) S1082P probably benign Het
Pkd2l1 T C 19: 44,138,902 (GRCm39) I649M probably benign Het
Plcl2 G A 17: 50,914,757 (GRCm39) E589K probably damaging Het
Plppr1 C A 4: 49,337,674 (GRCm39) T325N possibly damaging Het
Prss8 GCTGCCCAAGTCCC GC 7: 127,529,021 (GRCm39) probably benign Het
Ptcd2 A G 13: 99,481,105 (GRCm39) S25P probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rusc2 T A 4: 43,416,137 (GRCm39) V481E probably damaging Het
Sephs2 G T 7: 126,872,139 (GRCm39) T318K probably damaging Het
Sf3b1 T A 1: 55,042,313 (GRCm39) I497L probably damaging Het
Slc30a7 C T 3: 115,750,519 (GRCm39) probably null Het
Slc66a2 T G 18: 80,326,529 (GRCm39) S126A probably benign Het
Smarca2 T C 19: 26,608,228 (GRCm39) S96P probably damaging Het
Spata31d1c A C 13: 65,184,368 (GRCm39) I637L probably benign Het
Ston2 A T 12: 91,707,266 (GRCm39) S115T probably damaging Het
Tal2 A C 4: 53,785,999 (GRCm39) E60A probably benign Het
Tdpoz3 A T 3: 93,733,447 (GRCm39) T41S probably benign Het
Tent4b T A 8: 88,969,937 (GRCm39) M203K possibly damaging Het
Tespa1 T C 10: 130,196,560 (GRCm39) I166T probably benign Het
Thsd7a A T 6: 12,555,438 (GRCm39) C149S probably damaging Het
Trav6-1 T A 14: 52,875,967 (GRCm39) probably benign Het
Txnl4a T C 18: 80,250,479 (GRCm39) V25A probably benign Het
Utp4 C A 8: 107,632,908 (GRCm39) P297Q probably benign Het
Vmn1r34 T C 6: 66,613,922 (GRCm39) Y272C probably damaging Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Vmn2r121 C A X: 123,037,837 (GRCm39) G728W probably damaging Het
Vmn2r24 T A 6: 123,763,692 (GRCm39) S190T probably damaging Het
Zfp507 A G 7: 35,475,435 (GRCm39) V926A possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGGCTTCAGTAGATATGGCGTCTTC -3'
(R):5'- GCAGTGGTAAGCTGGACTCATCTTC -3'

Sequencing Primer
(F):5'- AGATATGGCGTCTTCCATGAGC -3'
(R):5'- GGTAAGCTGGACTCATCTTCCAATAG -3'
Posted On 2014-03-17