Incidental Mutation 'R4360:Islr'
ID 324860
Institutional Source Beutler Lab
Gene Symbol Islr
Ensembl Gene ENSMUSG00000037206
Gene Name immunoglobulin superfamily containing leucine-rich repeat
Synonyms
MMRRC Submission 041111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R4360 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58063547-58066563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58064887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 207 (N207Y)
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 probably damaging
Transcript: ENSMUST00000041477
AA Change: N207Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
AA Change: N207Y

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 probably damaging
Transcript: ENSMUST00000168864
AA Change: N207Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
AA Change: N207Y

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 0.1429 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (50/50)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Adgra3 T C 5: 50,147,552 (GRCm39) E496G possibly damaging Het
Atg14 C G 14: 47,805,827 (GRCm39) E13Q probably benign Het
BC023105 G T 18: 60,575,073 (GRCm39) noncoding transcript Het
Chd6 A G 2: 160,791,776 (GRCm39) V2527A possibly damaging Het
Csn1s2a G T 5: 87,929,700 (GRCm39) V100L possibly damaging Het
Fah G A 7: 84,238,856 (GRCm39) L330F probably damaging Het
Fmo2 T C 1: 162,709,583 (GRCm39) N268S probably damaging Het
Foxg1 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 12: 49,431,475 (GRCm39) probably benign Het
Frmd4a A T 2: 4,606,052 (GRCm39) H287L probably damaging Het
G2e3 T A 12: 51,410,197 (GRCm39) probably benign Het
Gm1758 A T 16: 14,324,215 (GRCm39) noncoding transcript Het
Gm7204 T C 16: 48,039,196 (GRCm39) noncoding transcript Het
Gm829 T C 4: 45,718,819 (GRCm39) noncoding transcript Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Lipc T C 9: 70,759,864 (GRCm39) probably benign Het
Ncor2 A G 5: 125,106,036 (GRCm39) S1546P probably damaging Het
Or13a25 T C 7: 140,247,730 (GRCm39) F170L probably damaging Het
Or56a3 A C 7: 104,735,460 (GRCm39) E179A probably damaging Het
Or7g18 G A 9: 18,787,013 (GRCm39) C127Y probably damaging Het
Parp4 A G 14: 56,866,661 (GRCm39) D1075G possibly damaging Het
Pkp2 A G 16: 16,086,546 (GRCm39) I736V probably benign Het
Plekha8 T C 6: 54,599,171 (GRCm39) I235T probably benign Het
Polq A G 16: 36,880,701 (GRCm39) D955G probably benign Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Psmd1 A G 1: 86,061,459 (GRCm39) K890E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scpep1 A G 11: 88,821,070 (GRCm39) Y366H possibly damaging Het
Slc18a3 A G 14: 32,185,882 (GRCm39) V167A probably benign Het
Sp8 A G 12: 118,812,400 (GRCm39) D85G possibly damaging Het
Stard3nl G A 13: 19,554,654 (GRCm39) S144L probably damaging Het
Stk4 A G 2: 163,930,879 (GRCm39) E160G possibly damaging Het
Tbcb T C 7: 29,926,460 (GRCm39) N119S probably benign Het
Tnc G T 4: 63,935,161 (GRCm39) R592S probably benign Het
Trem3 T A 17: 48,556,801 (GRCm39) S91T probably benign Het
Trpc6 A G 9: 8,610,267 (GRCm39) E245G probably benign Het
Usp40 C T 1: 87,880,083 (GRCm39) R1036H probably damaging Het
Usp47 G T 7: 111,654,139 (GRCm39) G112C probably damaging Het
Wdr35 T C 12: 9,024,149 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,746,456 (GRCm39) K555R probably benign Het
Zfp26 T C 9: 20,349,869 (GRCm39) S232G probably benign Het
Zfp811 T C 17: 33,017,432 (GRCm39) T202A 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
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
R6768:Islr UTSW 9 58,064,893 (GRCm39) missense possibly damaging 0.75
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'- TGCTCAAGATGGACAGCAACG -3'

Sequencing Primer
(F):5'- ACGTCACAGTGGAGTGCC -3'
(R):5'- TGGACAGCAACGAGTTAGCCTTC -3'
Posted On 2015-07-06