Incidental Mutation 'IGL00235:Hapln1'
ID 2161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hapln1
Ensembl Gene ENSMUSG00000021613
Gene Name hyaluronan and proteoglycan link protein 1
Synonyms LP-1, cartilage linking protein 1, Crtl1l, link protein, CLP, Crtl1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00235
Quality Score
Status
Chromosome 13
Chromosomal Location 89688654-89759951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89756261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 355 (Y355S)
Ref Sequence ENSEMBL: ENSMUSP00000022108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022108]
AlphaFold Q9QUP5
Predicted Effect probably benign
Transcript: ENSMUST00000022108
AA Change: Y355S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: Y355S

DomainStartEndE-ValueType
IGv 58 143 3.48e-12 SMART
LINK 159 256 7.26e-61 SMART
LINK 260 353 8.35e-52 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,073,583 (GRCm39) E454K possibly damaging Het
Agl T C 3: 116,565,132 (GRCm39) H1039R probably benign Het
Akap3 T C 6: 126,842,694 (GRCm39) F438L probably benign Het
Casp1 A T 9: 5,299,872 (GRCm39) probably benign Het
Cnih2 G T 19: 5,148,301 (GRCm39) probably benign Het
Dchs1 G A 7: 105,407,950 (GRCm39) R1961C probably damaging Het
Defb21 G A 2: 152,416,712 (GRCm39) V63I probably benign Het
Elovl6 T A 3: 129,422,025 (GRCm39) N105K probably benign Het
Fam83e A T 7: 45,376,493 (GRCm39) E402V probably benign Het
Fat4 T A 3: 39,036,398 (GRCm39) I3350N probably damaging Het
Gmpr2 C A 14: 55,913,171 (GRCm39) F149L probably damaging Het
Gucy1b2 C A 14: 62,643,694 (GRCm39) V636F probably damaging Het
Hoxb13 G T 11: 96,085,468 (GRCm39) C67F possibly damaging Het
Hspa12b T A 2: 130,976,040 (GRCm39) I14N probably damaging Het
Ighe C A 12: 113,235,135 (GRCm39) V342L unknown Het
Ighv1-49 A T 12: 115,019,076 (GRCm39) S21T possibly damaging Het
Klhl17 A G 4: 156,318,319 (GRCm39) I101T possibly damaging Het
Lrrd1 T G 5: 3,900,573 (GRCm39) L293V possibly damaging Het
Lyrm4 T A 13: 36,276,865 (GRCm39) K44M probably damaging Het
Med15 G T 16: 17,498,590 (GRCm39) P101T probably damaging Het
Mgat4c A T 10: 102,224,581 (GRCm39) H265L probably damaging Het
Mme T A 3: 63,247,465 (GRCm39) I250N possibly damaging Het
Mxra8 C A 4: 155,927,020 (GRCm39) T318N probably benign Het
Nlrp9b G A 7: 19,757,203 (GRCm39) V147I probably benign Het
Npepl1 G T 2: 173,962,341 (GRCm39) V336L probably damaging Het
Or1e23 G A 11: 73,407,236 (GRCm39) S263L possibly damaging Het
Pank2 T C 2: 131,116,089 (GRCm39) I169T possibly damaging Het
Pgap6 T C 17: 26,336,493 (GRCm39) S204P probably damaging Het
Pkhd1l1 A T 15: 44,419,415 (GRCm39) H2960L probably damaging Het
Pnpla8 A G 12: 44,329,852 (GRCm39) R135G probably benign Het
Prdm8 T G 5: 98,331,202 (GRCm39) V18G probably damaging Het
Rhox7b G T X: 36,978,539 (GRCm39) P231T probably damaging Het
Rnf121 A T 7: 101,714,322 (GRCm39) probably benign Het
Skap1 T C 11: 96,380,736 (GRCm39) F45S probably damaging Het
Slc4a5 T A 6: 83,262,881 (GRCm39) L791Q probably damaging Het
Ssh1 T C 5: 114,080,637 (GRCm39) D931G probably damaging Het
Txndc16 T C 14: 45,399,807 (GRCm39) Y382C probably damaging Het
Uhrf2 T C 19: 30,051,346 (GRCm39) F307L probably benign Het
Zfhx2 C A 14: 55,300,714 (GRCm39) A2346S probably benign Het
Other mutations in Hapln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Hapln1 APN 13 89,753,590 (GRCm39) missense probably benign 0.04
IGL01865:Hapln1 APN 13 89,749,784 (GRCm39) missense probably damaging 1.00
IGL02706:Hapln1 APN 13 89,753,578 (GRCm39) missense possibly damaging 0.86
IGL02990:Hapln1 APN 13 89,749,725 (GRCm39) missense probably benign 0.03
R0033:Hapln1 UTSW 13 89,749,932 (GRCm39) missense probably benign 0.20
R0058:Hapln1 UTSW 13 89,755,997 (GRCm39) missense probably benign 0.17
R0058:Hapln1 UTSW 13 89,755,997 (GRCm39) missense probably benign 0.17
R0127:Hapln1 UTSW 13 89,755,988 (GRCm39) missense probably benign 0.22
R0519:Hapln1 UTSW 13 89,732,835 (GRCm39) start gained probably benign
R3862:Hapln1 UTSW 13 89,753,418 (GRCm39) nonsense probably null
R3982:Hapln1 UTSW 13 89,753,560 (GRCm39) missense probably benign
R4717:Hapln1 UTSW 13 89,753,579 (GRCm39) missense probably benign 0.11
R4861:Hapln1 UTSW 13 89,749,571 (GRCm39) missense possibly damaging 0.65
R4861:Hapln1 UTSW 13 89,749,571 (GRCm39) missense possibly damaging 0.65
R4862:Hapln1 UTSW 13 89,749,571 (GRCm39) missense possibly damaging 0.65
R4899:Hapln1 UTSW 13 89,749,769 (GRCm39) missense possibly damaging 0.90
R5402:Hapln1 UTSW 13 89,753,530 (GRCm39) missense probably benign 0.07
R5629:Hapln1 UTSW 13 89,749,634 (GRCm39) missense probably damaging 0.98
R6019:Hapln1 UTSW 13 89,756,219 (GRCm39) missense probably benign 0.45
R7917:Hapln1 UTSW 13 89,755,997 (GRCm39) missense probably benign 0.17
R7938:Hapln1 UTSW 13 89,753,347 (GRCm39) missense probably damaging 0.99
R8312:Hapln1 UTSW 13 89,749,563 (GRCm39) missense probably benign
R8345:Hapln1 UTSW 13 89,732,902 (GRCm39) missense probably benign
Z1088:Hapln1 UTSW 13 89,749,617 (GRCm39) missense probably benign
Posted On 2011-12-09