Incidental Mutation 'IGL02174:Ihh'
ID 283033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ihh
Ensembl Gene ENSMUSG00000006538
Gene Name Indian hedgehog
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02174
Quality Score
Status
Chromosome 1
Chromosomal Location 74984474-74990831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74990105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 90 (I90T)
Ref Sequence ENSEMBL: ENSMUSP00000128056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164097]
AlphaFold P97812
Predicted Effect probably damaging
Transcript: ENSMUST00000164097
AA Change: I90T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: I90T

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Pfam:HH_signal 66 227 2.7e-88 PFAM
HintN 239 346 3.15e-29 SMART
HintC 347 391 3.5e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194616
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,738,154 (GRCm39) I1199V probably damaging Het
Adgrv1 G A 13: 81,575,783 (GRCm39) T4861I probably benign Het
Ampd2 T C 3: 107,987,601 (GRCm39) D108G probably damaging Het
Azin1 A G 15: 38,493,730 (GRCm39) F298L probably benign Het
Bag1 T A 4: 40,941,555 (GRCm39) E123D possibly damaging Het
Cabs1 A G 5: 88,128,339 (GRCm39) E330G probably benign Het
Ccdc33 T C 9: 57,940,938 (GRCm39) K435E probably benign Het
Clip2 T G 5: 134,523,118 (GRCm39) K943T probably damaging Het
Cmya5 T C 13: 93,185,415 (GRCm39) I3527V possibly damaging Het
Cyp2w1 C T 5: 139,341,384 (GRCm39) R244C probably benign Het
Dcaf13 C A 15: 39,001,544 (GRCm39) A284E probably damaging Het
Ddx31 T A 2: 28,749,041 (GRCm39) L279Q probably damaging Het
Dgki A G 6: 37,009,856 (GRCm39) L497P probably damaging Het
Dnah12 A T 14: 26,428,072 (GRCm39) I233F probably benign Het
Dpp6 G T 5: 27,926,085 (GRCm39) G720* probably null Het
Emc1 T C 4: 139,098,979 (GRCm39) Y821H possibly damaging Het
Esr1 C T 10: 4,948,003 (GRCm39) R519W probably damaging Het
Gamt A T 10: 80,094,230 (GRCm39) V227E possibly damaging Het
Habp2 A G 19: 56,300,169 (GRCm39) Q206R probably damaging Het
Kif20b T C 19: 34,911,858 (GRCm39) probably benign Het
Lcp2 T C 11: 34,000,966 (GRCm39) probably benign Het
Lyrm2 A G 4: 32,800,649 (GRCm39) I29V probably benign Het
Macf1 T C 4: 123,385,587 (GRCm39) D1168G probably damaging Het
Mocos T C 18: 24,828,953 (GRCm39) S753P probably benign Het
Myo3a A G 2: 22,337,204 (GRCm39) E367G probably benign Het
Ndor1 G A 2: 25,139,206 (GRCm39) A255V possibly damaging Het
Nfat5 C T 8: 108,065,683 (GRCm39) P148S probably damaging Het
Or4c121 A T 2: 89,023,712 (GRCm39) F222Y probably benign Het
Or5al7 T A 2: 85,992,442 (GRCm39) M284L possibly damaging Het
Or6z7 T C 7: 6,483,438 (GRCm39) Y239C probably benign Het
Or8b41 A T 9: 38,055,081 (GRCm39) T217S possibly damaging Het
Pappa2 C T 1: 158,589,188 (GRCm39) C1679Y probably damaging Het
Pcdhb2 T A 18: 37,429,551 (GRCm39) I508N probably damaging Het
Pkd2l1 G A 19: 44,145,707 (GRCm39) T172I probably benign Het
Pld5 A G 1: 176,102,310 (GRCm39) V44A possibly damaging Het
Prss44 T C 9: 110,646,199 (GRCm39) W309R probably damaging Het
Rc3h2 A T 2: 37,301,237 (GRCm39) N88K probably benign Het
Rspry1 A G 8: 95,359,768 (GRCm39) I102M possibly damaging Het
Stab2 A G 10: 86,695,606 (GRCm39) probably null Het
Tbx3 C A 5: 119,813,649 (GRCm39) Y228* probably null Het
Tcf15 G T 2: 151,986,065 (GRCm39) probably benign Het
Tmem41b A G 7: 109,578,003 (GRCm39) S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 (GRCm39) I223F possibly damaging Het
Tyrp1 G T 4: 80,763,063 (GRCm39) G317* probably null Het
Urod T A 4: 116,847,479 (GRCm39) probably benign Het
Vwf G T 6: 125,532,358 (GRCm39) R52L probably damaging Het
Wnk2 C A 13: 49,210,643 (GRCm39) Q232H probably damaging Het
Zbtb10 C A 3: 9,316,872 (GRCm39) P228Q probably damaging Het
Zfp764l1 G A 7: 126,991,525 (GRCm39) T154I possibly damaging Het
Other mutations in Ihh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ihh APN 1 74,985,601 (GRCm39) missense probably damaging 1.00
Echidna UTSW 1 74,985,886 (GRCm39) missense probably benign 0.08
R0047:Ihh UTSW 1 74,985,750 (GRCm39) missense probably benign 0.01
R0047:Ihh UTSW 1 74,985,750 (GRCm39) missense probably benign 0.01
R1404:Ihh UTSW 1 74,990,372 (GRCm39) start codon destroyed probably null
R1404:Ihh UTSW 1 74,990,372 (GRCm39) start codon destroyed probably null
R2936:Ihh UTSW 1 74,985,705 (GRCm39) missense probably damaging 0.97
R4520:Ihh UTSW 1 74,990,109 (GRCm39) missense probably damaging 1.00
R4540:Ihh UTSW 1 74,987,558 (GRCm39) missense possibly damaging 0.94
R5399:Ihh UTSW 1 74,985,436 (GRCm39) missense probably benign 0.00
R5736:Ihh UTSW 1 74,985,286 (GRCm39) missense probably benign
R6026:Ihh UTSW 1 74,985,886 (GRCm39) missense probably benign 0.08
R6073:Ihh UTSW 1 74,990,438 (GRCm39) utr 5 prime probably benign
R6458:Ihh UTSW 1 74,985,601 (GRCm39) missense probably damaging 1.00
R6489:Ihh UTSW 1 74,985,670 (GRCm39) missense probably damaging 1.00
R7311:Ihh UTSW 1 74,990,306 (GRCm39) missense unknown
R7350:Ihh UTSW 1 74,987,492 (GRCm39) missense probably damaging 1.00
R7818:Ihh UTSW 1 74,985,804 (GRCm39) missense possibly damaging 0.84
R7835:Ihh UTSW 1 74,985,525 (GRCm39) missense probably damaging 0.98
R9128:Ihh UTSW 1 74,985,498 (GRCm39) missense probably damaging 1.00
Z1176:Ihh UTSW 1 74,985,253 (GRCm39) missense probably damaging 1.00
Z1189:Ihh UTSW 1 74,990,204 (GRCm39) missense probably damaging 1.00
Z1192:Ihh UTSW 1 74,990,204 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16