Incidental Mutation 'R6768:Islr'
ID 532050
Institutional Source Beutler Lab
Gene Symbol Islr
Ensembl Gene ENSMUSG00000037206
Gene Name immunoglobulin superfamily containing leucine-rich repeat
Synonyms
MMRRC Submission 044884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6768 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58063547-58066563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58064893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 205 (Q205K)
Ref Sequence ENSEMBL: ENSMUSP00000126963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034880] [ENSMUST00000041477] [ENSMUST00000085677] [ENSMUST00000167479] [ENSMUST00000168864] [ENSMUST00000170397] [ENSMUST00000217578]
AlphaFold Q6GU68
Predicted Effect probably benign
Transcript: ENSMUST00000034880
SMART Domains Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000041477
AA Change: Q205K

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
AA Change: Q205K

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
LRRNT 18 54 3.32e-1 SMART
LRR 50 72 1.49e1 SMART
LRR 73 96 5.26e0 SMART
LRR 97 120 1.86e1 SMART
LRR_TYP 121 144 5.81e-2 SMART
LRR_TYP 145 168 5.21e-4 SMART
LRRCT 180 230 2.42e-9 SMART
IGc2 248 334 9.78e-7 SMART
low complexity region 408 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085677
SMART Domains Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 41 658 1.9e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167479
SMART Domains Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168864
AA Change: Q205K

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
AA Change: Q205K

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
LRRNT 18 54 3.32e-1 SMART
LRR 50 72 1.49e1 SMART
LRR 73 96 5.26e0 SMART
LRR 97 120 1.86e1 SMART
LRR_TYP 121 144 5.81e-2 SMART
LRR_TYP 145 168 5.21e-4 SMART
LRRCT 180 230 2.42e-9 SMART
IGc2 248 334 9.78e-7 SMART
low complexity region 408 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170397
SMART Domains Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217578
Meta Mutation Damage Score 0.1516 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
Validation Efficiency 96% (45/47)
MGI Phenotype PHENOTYPE: The gene product suppresses differentiation of bone marrow stromal and skeletal stem cells into skeletal lineages. Homozygous knockout leads to growth retardation and longer long bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,453,863 (GRCm39) V227I probably benign Het
Agtrap A G 4: 148,166,067 (GRCm39) V106A probably benign Het
Aldh3a2 A C 11: 61,144,536 (GRCm39) S341A probably benign Het
Bmper T A 9: 23,292,749 (GRCm39) C353S probably damaging Het
Casq1 C T 1: 172,047,245 (GRCm39) D5N probably benign Het
Ccin G A 4: 43,984,574 (GRCm39) R327H probably benign Het
Chuk A G 19: 44,085,390 (GRCm39) V252A probably damaging Het
Colec11 T C 12: 28,645,100 (GRCm39) probably null Het
Cpeb3 G A 19: 37,002,432 (GRCm39) T643I possibly damaging Het
Cstpp1 A T 2: 91,252,303 (GRCm39) H19Q probably damaging Het
Ctcfl A G 2: 172,959,084 (GRCm39) V214A possibly damaging Het
Dst A G 1: 34,220,793 (GRCm39) E2199G probably damaging Het
Eno2 T C 6: 124,744,711 (GRCm39) E45G probably damaging Het
Foxa2 T C 2: 147,885,747 (GRCm39) H181R probably damaging Het
Fpgs A G 2: 32,576,635 (GRCm39) S331P probably benign Het
Gm47189 A G 14: 41,492,035 (GRCm39) S81P probably benign Het
Igsf8 C A 1: 172,145,099 (GRCm39) P142Q probably damaging Het
Josd1 A G 15: 79,561,323 (GRCm39) W162R probably benign Het
Lrrc37a G A 11: 103,390,949 (GRCm39) T1492I probably benign Het
Meox1 A G 11: 101,770,161 (GRCm39) F189L probably damaging Het
Mtf1 G A 4: 124,731,578 (GRCm39) D385N probably benign Het
Naip2 A T 13: 100,314,832 (GRCm39) C315* probably null Het
Ncaph2 T A 15: 89,248,202 (GRCm39) Y166* probably null Het
Nr1i3 G A 1: 171,044,966 (GRCm39) V270M probably damaging Het
Or11h4b A G 14: 50,919,049 (GRCm39) L14S probably damaging Het
Or13c7 T C 4: 43,854,351 (GRCm39) I14T probably benign Het
Panx3 T C 9: 37,575,322 (GRCm39) K180R probably benign Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Reln A C 5: 22,183,905 (GRCm39) V1698G probably damaging Het
Rnf213 G T 11: 119,333,062 (GRCm39) R2757L probably damaging Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Sdhb A G 4: 140,706,364 (GRCm39) E267G probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Stk11ip T A 1: 75,509,279 (GRCm39) C766S probably benign Het
Taf6l A C 19: 8,751,913 (GRCm39) S592A probably damaging Het
Tmem145 G A 7: 25,008,061 (GRCm39) G235D probably damaging Het
Tuba3b T A 6: 145,564,455 (GRCm39) probably null Het
Ubl7 A T 9: 57,820,045 (GRCm39) E32D probably benign Het
Vmn1r168 A T 7: 23,240,460 (GRCm39) T106S probably damaging Het
Vmn2r59 C A 7: 41,661,392 (GRCm39) V808F probably benign Het
Vmn2r61 C T 7: 41,949,748 (GRCm39) P723S probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp11 G T 5: 129,735,415 (GRCm39) D15E probably benign Het
Zfp428 G A 7: 24,214,908 (GRCm39) G162R probably damaging Het
Zfp629 G A 7: 127,209,997 (GRCm39) T604I probably benign Het
Zfpm1 C A 8: 123,061,195 (GRCm39) D253E probably damaging Het
Zhx1 G T 15: 57,917,499 (GRCm39) T249K probably benign Het
Other mutations in Islr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Islr APN 9 58,064,511 (GRCm39) missense probably damaging 1.00
IGL02169:Islr APN 9 58,065,415 (GRCm39) missense possibly damaging 0.92
IGL02369:Islr APN 9 58,064,907 (GRCm39) missense probably damaging 1.00
IGL02930:Islr APN 9 58,065,483 (GRCm39) unclassified probably benign
PIT4581001:Islr UTSW 9 58,064,484 (GRCm39) missense possibly damaging 0.92
R1121:Islr UTSW 9 58,065,045 (GRCm39) missense probably benign 0.21
R1470:Islr UTSW 9 58,064,589 (GRCm39) missense probably damaging 1.00
R1470:Islr UTSW 9 58,064,589 (GRCm39) missense probably damaging 1.00
R1638:Islr UTSW 9 58,065,502 (GRCm39) unclassified probably benign
R1699:Islr UTSW 9 58,064,778 (GRCm39) missense probably damaging 1.00
R4360:Islr UTSW 9 58,064,887 (GRCm39) missense probably damaging 1.00
R4677:Islr UTSW 9 58,064,642 (GRCm39) missense probably damaging 1.00
R4707:Islr UTSW 9 58,064,970 (GRCm39) missense possibly damaging 0.75
R4856:Islr UTSW 9 58,064,889 (GRCm39) missense probably damaging 0.99
R5354:Islr UTSW 9 58,064,895 (GRCm39) missense probably damaging 1.00
R6343:Islr UTSW 9 58,064,379 (GRCm39) missense probably damaging 1.00
R7050:Islr UTSW 9 58,065,000 (GRCm39) missense probably damaging 1.00
R7216:Islr UTSW 9 58,064,250 (GRCm39) missense unknown
R8209:Islr UTSW 9 58,065,340 (GRCm39) missense probably damaging 0.99
R8806:Islr UTSW 9 58,064,256 (GRCm39) missense unknown
R9235:Islr UTSW 9 58,064,944 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- TGTCCATCCACGTCACAGTG -3'
(R):5'- CTCTGCAGCTGCTCAAGATG -3'

Sequencing Primer
(F):5'- ACGTCACAGTGGAGTGCC -3'
(R):5'- TGGACAGCAACGAGTTAGCCTTC -3'
Posted On 2018-08-29