Incidental Mutation 'IGL01865:Hapln1'
ID 178466
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 # IGL01865
Quality Score
Status
Chromosome 13
Chromosomal Location 89688654-89759951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89749784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 110 (Y110H)
Ref Sequence ENSEMBL: ENSMUSP00000022108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022108]
AlphaFold Q9QUP5
Predicted Effect probably damaging
Transcript: ENSMUST00000022108
AA Change: Y110H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: Y110H

DomainStartEndE-ValueType
IGv 58 143 3.48e-12 SMART
LINK 159 256 7.26e-61 SMART
LINK 260 353 8.35e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225678
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,836,107 (GRCm39) H162R probably damaging Het
Adamts10 T A 17: 33,772,140 (GRCm39) M1096K probably damaging Het
Asap3 G T 4: 135,963,715 (GRCm39) C325F probably damaging Het
Atm T C 9: 53,372,302 (GRCm39) E2160G probably damaging Het
Col4a1 G A 8: 11,251,790 (GRCm39) probably benign Het
Ctdp1 C T 18: 80,499,199 (GRCm39) G248S probably damaging Het
Dcaf5 A T 12: 80,386,088 (GRCm39) D679E probably benign Het
Efcab2 C A 1: 178,303,253 (GRCm39) Y91* probably null Het
Eif3d G T 15: 77,851,546 (GRCm39) T88K probably benign Het
Gapvd1 G A 2: 34,585,515 (GRCm39) A1049V probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm18856 T A 13: 14,139,508 (GRCm39) probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm9991 A G 1: 90,606,635 (GRCm39) noncoding transcript Het
Htr1f A G 16: 64,746,282 (GRCm39) Y337H probably damaging Het
Kirrel1 T A 3: 86,993,731 (GRCm39) S509C probably damaging Het
Limch1 A T 5: 67,131,923 (GRCm39) R138* probably null Het
Lypla1 A C 1: 4,907,259 (GRCm39) I108L probably damaging Het
Mc3r A G 2: 172,090,975 (GRCm39) N66D probably damaging Het
Melk T A 4: 44,344,988 (GRCm39) C373S probably benign Het
Myocd C A 11: 65,091,723 (GRCm39) S73I probably benign Het
Nell2 A G 15: 95,282,962 (GRCm39) V360A possibly damaging Het
Npas4 G A 19: 5,035,819 (GRCm39) Q782* probably null Het
Or7a36 A T 10: 78,820,512 (GRCm39) D296V possibly damaging Het
Pdzd8 T C 19: 59,288,077 (GRCm39) K1108E possibly damaging Het
Per2 A G 1: 91,349,239 (GRCm39) I1044T probably benign Het
Pgm3 A G 9: 86,437,371 (GRCm39) F501S possibly damaging Het
Ppp1r3c A G 19: 36,711,578 (GRCm39) V64A probably benign Het
Ptpn6 A T 6: 124,709,428 (GRCm39) I15N probably damaging Het
Pxk T C 14: 8,136,923 (GRCm38) V148A possibly damaging Het
Rngtt T A 4: 33,325,157 (GRCm39) probably benign Het
Rtkn2 T G 10: 67,871,705 (GRCm39) S364R probably benign Het
Rtn1 A C 12: 72,266,074 (GRCm39) L167R probably damaging Het
Sp2 G A 11: 96,851,868 (GRCm39) T352I probably damaging Het
Tbc1d17 A G 7: 44,492,113 (GRCm39) M459T possibly damaging Het
Tbcd T A 11: 121,481,206 (GRCm39) M694K possibly damaging Het
Tln2 G A 9: 67,157,896 (GRCm39) R1148* probably null Het
Trim27 T C 13: 21,376,662 (GRCm39) V294A probably damaging Het
Tspyl5 G T 15: 33,687,858 (GRCm39) A29E unknown Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vrk2 C T 11: 26,485,560 (GRCm39) V143I possibly damaging Het
Zfp952 G A 17: 33,221,791 (GRCm39) R52Q probably benign Het
Zfp979 A T 4: 147,699,774 (GRCm39) D55E probably benign Het
Other mutations in Hapln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Hapln1 APN 13 89,756,261 (GRCm39) missense probably benign 0.00
IGL00494:Hapln1 APN 13 89,753,590 (GRCm39) missense probably benign 0.04
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 2014-05-07