Incidental Mutation 'R1888:Lrig1'
ID 211883
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 039909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1888 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 94581510-94677139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94631859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 114 (A114T)
Ref Sequence ENSEMBL: ENSMUSP00000144963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032105] [ENSMUST00000101126] [ENSMUST00000204645]
AlphaFold P70193
Predicted Effect probably benign
Transcript: ENSMUST00000032105
AA Change: A114T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: A114T

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: ENSMUST00000101126
AA Change: A114T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: A114T

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 noncoding transcript
Transcript: ENSMUST00000150811
Predicted Effect probably benign
Transcript: ENSMUST00000204645
AA Change: A114T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: A114T

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,960,030 (GRCm39) M80T unknown Het
4930578I06Rik A G 14: 64,223,632 (GRCm39) L48P probably damaging Het
Abcc9 A G 6: 142,625,040 (GRCm39) S452P probably benign Het
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Adgrf5 T G 17: 43,737,896 (GRCm39) probably null Het
Adgrl4 A G 3: 151,144,914 (GRCm39) N21S probably benign Het
Adss2 A T 1: 177,612,517 (GRCm39) Y77* probably null Het
Ahnak A T 19: 8,984,452 (GRCm39) D1912V probably damaging Het
Ahnak2 A G 12: 112,740,325 (GRCm39) M1249T possibly damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Bbs12 C A 3: 37,374,712 (GRCm39) L387I probably damaging Het
Ciita T C 16: 10,328,948 (GRCm39) Y411H probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clec9a G A 6: 129,387,249 (GRCm39) V35I probably benign Het
Cntn5 T A 9: 9,984,082 (GRCm39) Q382L possibly damaging Het
Cracdl T C 1: 37,663,364 (GRCm39) K845E possibly damaging Het
Dock2 A T 11: 34,598,169 (GRCm39) I334N probably damaging Het
Dock9 G T 14: 121,862,617 (GRCm39) T833K probably benign Het
Drd2 G A 9: 49,313,442 (GRCm39) V204I probably benign Het
Fam120a A T 13: 49,039,342 (GRCm39) I938N possibly damaging Het
Fndc1 T C 17: 7,990,621 (GRCm39) E1025G unknown Het
Fsip2 G A 2: 82,774,504 (GRCm39) D64N probably benign Het
Gm14496 T A 2: 181,641,989 (GRCm39) C553* probably null Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Hmcn1 C G 1: 150,695,251 (GRCm39) A218P possibly damaging Het
Hpgds A G 6: 65,115,217 (GRCm39) F22S probably damaging Het
Il5ra T A 6: 106,708,874 (GRCm39) N289Y probably damaging Het
Irf2 A T 8: 47,260,388 (GRCm39) R107* probably null Het
Kcnk6 T C 7: 28,925,075 (GRCm39) I180M probably benign Het
Krtap5-3 G A 7: 141,755,979 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,389,587 (GRCm39) V1946A probably benign Het
Lrrc8b T C 5: 105,629,217 (GRCm39) V521A probably benign Het
Macf1 T G 4: 123,348,835 (GRCm39) I2154L possibly damaging Het
Macf1 C A 4: 123,368,505 (GRCm39) E2085D probably benign Het
Maml1 C T 11: 50,157,468 (GRCm39) A236T probably benign Het
Mdc1 C A 17: 36,165,117 (GRCm39) T1481K probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mfap3l T C 8: 61,124,424 (GRCm39) V222A possibly damaging Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mpped2 T C 2: 106,529,790 (GRCm39) I13T probably benign Het
Mthfd1l C A 10: 4,056,528 (GRCm39) T948K probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mtx3 A G 13: 92,984,191 (GRCm39) E156G probably benign Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myh2 G A 11: 67,071,676 (GRCm39) V498M probably damaging Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Myo1b T A 1: 51,799,562 (GRCm39) probably null Het
Ndufa2 T A 18: 36,877,573 (GRCm39) probably benign Het
Nipal2 T C 15: 34,625,167 (GRCm39) I129M possibly damaging Het
Nt5dc3 A G 10: 86,669,926 (GRCm39) N507S possibly damaging Het
Or4b12 A G 2: 90,095,913 (GRCm39) L287P probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pcdhb17 G A 18: 37,620,438 (GRCm39) probably null Het
Pcyt2 A G 11: 120,508,677 (GRCm39) M1T probably null Het
Pla2g2d T C 4: 138,503,126 (GRCm39) M1T probably null Het
Plekhg6 T C 6: 125,340,306 (GRCm39) T685A probably damaging Het
Pramel19 T A 4: 101,798,335 (GRCm39) V102E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pxk T C 14: 8,151,540 (GRCm38) S452P probably damaging Het
Rab42 A T 4: 132,030,529 (GRCm39) D40E probably benign Het
Rapgef6 A C 11: 54,551,654 (GRCm39) T836P probably damaging Het
Serpina3a A G 12: 104,082,362 (GRCm39) D45G probably benign Het
Sntb1 T A 15: 55,612,745 (GRCm39) R278* probably null Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Stk40 T A 4: 126,019,538 (GRCm39) L90Q probably damaging Het
Syk A G 13: 52,794,826 (GRCm39) Y520C probably damaging Het
Syngr2 G A 11: 117,704,224 (GRCm39) V170M possibly damaging Het
Tcf12 A T 9: 71,765,816 (GRCm39) D541E possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlr4 T C 4: 66,759,409 (GRCm39) V734A probably damaging Het
Tmem132a T C 19: 10,840,863 (GRCm39) E389G probably damaging Het
Tmem150b A G 7: 4,712,044 (GRCm39) I112T probably benign Het
Tril A G 6: 53,796,577 (GRCm39) L215P probably damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Ttn G A 2: 76,623,151 (GRCm39) P15429S probably damaging Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Tubgcp2 A G 7: 139,579,183 (GRCm39) V701A probably damaging Het
Tubgcp2 A G 7: 139,586,069 (GRCm39) F407L probably damaging Het
Vmn1r30 A C 6: 58,412,475 (GRCm39) L119R possibly damaging Het
Washc5 A C 15: 59,231,174 (GRCm39) L363R probably damaging Het
Zan T C 5: 137,387,590 (GRCm39) T4874A unknown Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Zfp512b C A 2: 181,230,235 (GRCm39) R497L probably damaging Het
Zmat4 A G 8: 24,505,177 (GRCm39) N139S probably damaging Het
Zng1 A T 19: 24,932,769 (GRCm39) V88D 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
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'- TCAAACAGCAAAGACAGTGTTG -3'
(R):5'- GACTTCAGGTGGCTTGTCTC -3'

Sequencing Primer
(F):5'- CAGCAAAGACAGTGTTGCTATAATC -3'
(R):5'- AGGTGGCTTGTCTCCCTTTAAAAAC -3'
Posted On 2014-06-30