Incidental Mutation 'R5736:Ihh'
ID 451686
Institutional Source Beutler Lab
Gene Symbol Ihh
Ensembl Gene ENSMUSG00000006538
Gene Name Indian hedgehog
Synonyms
MMRRC Submission 043194-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5736 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74984474-74990831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74985286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 400 (T400A)
Ref Sequence ENSEMBL: ENSMUSP00000128056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164097]
AlphaFold P97812
Predicted Effect probably benign
Transcript: ENSMUST00000164097
AA Change: T400A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: T400A

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.5%
  • 20x: 93.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095N17Rik G A 1: 75,197,211 (GRCm39) probably benign Het
Akt1 G A 12: 112,623,284 (GRCm39) R367C probably benign Het
Arl8a T A 1: 135,082,458 (GRCm39) S150T probably benign Het
B020004C17Rik A T 14: 57,254,823 (GRCm39) T216S possibly damaging Het
Casz1 G A 4: 149,013,867 (GRCm39) V144I probably benign Het
Cd274 G T 19: 29,359,940 (GRCm39) L248F probably benign Het
Crisp4 T C 1: 18,185,939 (GRCm39) T266A probably benign Het
Dlx6 A T 6: 6,863,660 (GRCm39) H94L probably damaging Het
Exoc1 A G 5: 76,685,615 (GRCm39) N109S possibly damaging Het
Grik2 T C 10: 49,280,506 (GRCm39) E128G probably damaging Het
Hs3st4 G A 7: 123,996,662 (GRCm39) E443K probably damaging Het
Lamb1 T A 12: 31,352,664 (GRCm39) C806* probably null Het
Lrrn1 T C 6: 107,544,345 (GRCm39) S48P probably damaging Het
Lsm11 T C 11: 45,835,594 (GRCm39) N49S possibly damaging Het
Map3k11 C T 19: 5,746,739 (GRCm39) A507V probably damaging Het
Mill2 A T 7: 18,592,174 (GRCm39) Q265L probably benign Het
Odad2 T C 18: 7,268,416 (GRCm39) T368A probably benign Het
Or4s2b T C 2: 88,508,985 (GRCm39) M255T probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Peg10 T A 6: 4,754,423 (GRCm39) L68Q probably benign Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Prkag2 A T 5: 25,083,720 (GRCm39) Y88N probably damaging Het
Prmt5 A C 14: 54,752,297 (GRCm39) D166E probably null Het
Robo4 A T 9: 37,316,093 (GRCm39) T366S possibly damaging Het
Samd3 T C 10: 26,146,070 (GRCm39) I365T probably damaging Het
Sdf2l1 A T 16: 16,949,571 (GRCm39) C92S probably damaging Het
Serpinb6e A G 13: 34,016,753 (GRCm39) F327L probably damaging Het
Slc17a6 G A 7: 51,294,841 (GRCm39) V183I possibly damaging Het
Slc6a11 T C 6: 114,139,123 (GRCm39) S244P probably damaging Het
Slc6a5 A G 7: 49,609,102 (GRCm39) D769G probably benign Het
Slc7a14 A T 3: 31,278,059 (GRCm39) D515E probably benign Het
Slco2a1 A T 9: 102,945,029 (GRCm39) S135C probably benign Het
Spidr A T 16: 15,715,162 (GRCm39) D801E probably damaging Het
Spta1 T C 1: 174,041,821 (GRCm39) probably null Het
Tmem71 C T 15: 66,404,496 (GRCm39) V264I probably benign Het
Zfp563 G T 17: 33,323,960 (GRCm39) R185L possibly damaging Het
Zfp941 G A 7: 140,392,973 (GRCm39) P129S 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
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
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'- ACCTGGTCAAGTCTCAATGGTG -3'
(R):5'- TATGCTCCTCTCACAAGGCATG -3'

Sequencing Primer
(F):5'- GGTCAAGTCTCAATGGTGTCTCC -3'
(R):5'- CACTTGTGGTGGAGGATGTG -3'
Posted On 2017-01-03