Incidental Mutation 'R0058:Hapln1'
ID16415
Institutional Source Beutler Lab
Gene Symbol Hapln1
Ensembl Gene ENSMUSG00000021613
Gene Namehyaluronan and proteoglycan link protein 1
Synonymslink protein, LP-1, CLP, cartilage linking protein 1, Crtl1l, Crtl1
MMRRC Submission 038352-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0058 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location89539796-89611652 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89607878 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 267 (I267T)
Ref Sequence ENSEMBL: ENSMUSP00000022108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022108]
Predicted Effect probably benign
Transcript: ENSMUST00000022108
AA Change: I267T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: I267T

DomainStartEndE-ValueType
IGv 58 143 3.48e-12 SMART
LINK 159 256 7.26e-61 SMART
LINK 260 353 8.35e-52 SMART
Meta Mutation Damage Score 0.096 question?
Coding Region Coverage
  • 1x: 87.4%
  • 3x: 82.9%
  • 10x: 66.9%
  • 20x: 41.4%
Validation Efficiency 85% (62/73)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,182,672 V6088A possibly damaging Het
Ankrd36 A G 11: 5,630,691 probably benign Het
Anxa1 A T 19: 20,383,777 Y84N probably damaging Het
Arnt2 G A 7: 84,347,530 R63C probably damaging Het
Avpr1b A G 1: 131,599,786 T16A probably benign Het
Cables1 A G 18: 11,923,413 E316G possibly damaging Het
Cadm1 A T 9: 47,850,331 I427L probably damaging Het
Dazap1 T C 10: 80,261,581 probably benign Het
Dip2b A G 15: 100,215,240 E1512G probably benign Het
Dock1 G A 7: 135,108,761 V1171M possibly damaging Het
Dock5 A T 14: 67,781,036 F1230Y probably benign Het
Dst T C 1: 34,006,224 S13P possibly damaging Het
Dym G A 18: 75,043,172 E15K possibly damaging Het
Faf1 A G 4: 109,736,624 Q133R probably benign Het
Fcer2a T C 8: 3,688,111 probably benign Het
Fmo2 A T 1: 162,886,324 S204R probably benign Het
Ghitm A G 14: 37,131,592 L97P probably damaging Het
Gins4 A G 8: 23,229,510 probably benign Het
Gm10573 G A 4: 121,920,736 Het
Golga3 T A 5: 110,202,777 F766Y possibly damaging Het
Helz A T 11: 107,672,558 probably benign Het
Igll1 A T 16: 16,863,876 V5E probably benign Het
Kif16b A G 2: 142,857,305 probably null Het
Limk1 A T 5: 134,659,871 W507R probably damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Mtif3 C A 5: 146,956,921 V159F probably benign Het
Ncoa7 T A 10: 30,647,541 D887V probably damaging Het
Pkd1 G C 17: 24,564,703 A162P probably benign Het
Plce1 A G 19: 38,525,184 D309G possibly damaging Het
Plk4 T C 3: 40,805,872 V401A probably benign Het
Prrc2c C T 1: 162,698,884 V253I unknown Het
Ranbp2 T A 10: 58,480,531 S2358T probably damaging Het
Setd2 T A 9: 110,594,426 V2183E probably damaging Het
Sgsm1 T A 5: 113,285,087 S232C probably damaging Het
Skint6 A T 4: 113,046,815 probably benign Het
Slc15a2 A G 16: 36,754,547 I531T probably benign Het
Slc36a1 C T 11: 55,221,994 probably benign Het
Sptan1 T C 2: 29,993,696 probably null Het
Tex15 C T 8: 33,581,502 probably benign Het
Tlr9 T G 9: 106,224,965 L485R possibly damaging Het
Tmem207 A G 16: 26,524,829 probably benign Het
Triml2 T C 8: 43,185,269 probably benign Het
Tspear T C 10: 77,869,631 F288L probably benign Het
Zfp644 A T 5: 106,637,003 S559R possibly damaging Het
Other mutations in Hapln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Hapln1 APN 13 89608142 missense probably benign 0.00
IGL00494:Hapln1 APN 13 89605471 missense probably benign 0.04
IGL01865:Hapln1 APN 13 89601665 missense probably damaging 1.00
IGL02706:Hapln1 APN 13 89605459 missense possibly damaging 0.86
IGL02990:Hapln1 APN 13 89601606 missense probably benign 0.03
R0033:Hapln1 UTSW 13 89601813 missense probably benign 0.20
R0058:Hapln1 UTSW 13 89607878 missense probably benign 0.17
R0127:Hapln1 UTSW 13 89607869 missense probably benign 0.22
R0519:Hapln1 UTSW 13 89584716 start gained probably benign
R3862:Hapln1 UTSW 13 89605299 nonsense probably null
R3982:Hapln1 UTSW 13 89605441 missense probably benign
R4717:Hapln1 UTSW 13 89605460 missense probably benign 0.11
R4861:Hapln1 UTSW 13 89601452 missense possibly damaging 0.65
R4861:Hapln1 UTSW 13 89601452 missense possibly damaging 0.65
R4862:Hapln1 UTSW 13 89601452 missense possibly damaging 0.65
R4899:Hapln1 UTSW 13 89601650 missense possibly damaging 0.90
R5402:Hapln1 UTSW 13 89605411 missense probably benign 0.07
R5629:Hapln1 UTSW 13 89601515 missense probably damaging 0.98
R6019:Hapln1 UTSW 13 89608100 missense probably benign 0.45
Z1088:Hapln1 UTSW 13 89601498 missense probably benign
Posted On2013-01-20