Incidental Mutation 'R4520:Ihh'
ID 334155
Institutional Source Beutler Lab
Gene Symbol Ihh
Ensembl Gene ENSMUSG00000006538
Gene Name Indian hedgehog
Synonyms
MMRRC Submission 041763-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4520 (G1)
Quality Score 180
Status Not validated
Chromosome 1
Chromosomal Location 74984474-74990831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74990109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 89 (I89F)
Ref Sequence ENSEMBL: ENSMUSP00000128056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164097]
AlphaFold P97812
Predicted Effect probably damaging
Transcript: ENSMUST00000164097
AA Change: I89F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: I89F

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,776,027 (GRCm39) T1739A probably damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cel C T 2: 28,447,980 (GRCm39) V349M probably benign Het
Cspp1 A G 1: 10,204,452 (GRCm39) T1127A probably benign Het
Cyp2b10 T C 7: 25,610,982 (GRCm39) V113A probably benign Het
Cyp2c50 A G 19: 40,079,133 (GRCm39) T159A probably benign Het
Degs1 T C 1: 182,104,373 (GRCm39) D304G possibly damaging Het
Esr2 G A 12: 76,214,323 (GRCm39) P43S possibly damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm5444 A G 13: 4,884,225 (GRCm39) noncoding transcript Het
Golga3 T A 5: 110,351,617 (GRCm39) L790* probably null Het
Gtpbp6 T C 5: 110,255,725 (GRCm39) T105A probably benign Het
Ido2 T C 8: 25,066,194 (GRCm39) E24G probably damaging Het
Krt13 A G 11: 100,010,174 (GRCm39) M269T probably damaging Het
Marf1 T C 16: 13,950,530 (GRCm39) H952R probably damaging Het
Mga T A 2: 119,778,579 (GRCm39) F2041L possibly damaging Het
Msmo1 A C 8: 65,173,557 (GRCm39) probably benign Het
Mterf1a A G 5: 3,940,992 (GRCm39) V292A probably damaging Het
Naxe A G 3: 87,965,289 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or51h5 A T 7: 102,577,764 (GRCm39) I310F probably benign Het
Or56b1 T A 7: 104,285,376 (GRCm39) V165E probably damaging Het
Or8h7 T C 2: 86,721,363 (GRCm39) D52G probably benign Het
Otog T A 7: 45,890,477 (GRCm39) probably benign Het
Pigo A T 4: 43,020,301 (GRCm39) H880Q probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Pole T A 5: 110,445,790 (GRCm39) D555E probably damaging Het
Prkag2 A G 5: 25,071,169 (GRCm39) V403A probably damaging Het
Psg28 T A 7: 18,156,826 (GRCm39) M470L probably benign Het
Rpgrip1 A G 14: 52,389,746 (GRCm39) T1138A probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpinb9c T C 13: 33,335,840 (GRCm39) probably null Het
Sh2d6 T C 6: 72,495,936 (GRCm39) N101D possibly damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc13a1 T C 6: 24,134,512 (GRCm39) T124A probably benign Het
Slc6a3 G A 13: 73,688,975 (GRCm39) V100M possibly damaging Het
Sspn A G 6: 145,907,033 (GRCm39) T79A probably benign Het
Tlr8 C T X: 166,026,171 (GRCm39) R893H probably damaging Het
Tnrc18 T C 5: 142,717,905 (GRCm39) K2183R unknown Het
Trim15 T C 17: 37,177,242 (GRCm39) I139M probably benign Het
Trmt13 A T 3: 116,375,262 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,222,391 (GRCm39) T610S probably damaging Het
Zcchc14 A T 8: 122,335,834 (GRCm39) probably benign Het
Other mutations in Ihh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ihh APN 1 74,985,601 (GRCm39) missense probably damaging 1.00
IGL02174:Ihh APN 1 74,990,105 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TTCACAAGAAGGGCAGGTGC -3'
(R):5'- AAACGGGCCGGCCTATTTATTG -3'

Sequencing Primer
(F):5'- CGTGCCAGGCAGTCGAGAAAAA -3'
(R):5'- TGAGTCCCCGAAGCTGTC -3'
Posted On 2015-08-18