Incidental Mutation 'IGL01100:Ihh'
ID50264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ihh
Ensembl Gene ENSMUSG00000006538
Gene NameIndian hedgehog
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01100
Quality Score
Status
Chromosome1
Chromosomal Location74945315-74951672 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74946442 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 295 (A295T)
Ref Sequence ENSEMBL: ENSMUSP00000128056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164097]
Predicted Effect probably damaging
Transcript: ENSMUST00000164097
AA Change: A295T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: A295T

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,274,673 probably null Het
Abca8a C T 11: 110,058,423 probably null Het
Acad11 A G 9: 104,076,408 T32A probably damaging Het
Ak7 T A 12: 105,713,574 N122K probably benign Het
Arrb1 A T 7: 99,587,213 probably null Het
Csde1 C A 3: 103,040,525 R132S possibly damaging Het
Emilin1 A G 5: 30,918,404 H663R probably benign Het
Etaa1 A G 11: 17,952,576 probably null Het
Fat3 A T 9: 16,375,228 F1000I probably damaging Het
Foxj2 T C 6: 122,828,391 L74P probably damaging Het
Gas6 C T 8: 13,475,118 V289M probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Ip6k2 G T 9: 108,805,744 S305I probably damaging Het
Kcnk2 A G 1: 189,339,936 V65A probably damaging Het
Kif26b G A 1: 178,917,244 C1635Y probably benign Het
Klhdc4 G A 8: 121,821,843 Q44* probably null Het
Madd C A 2: 91,158,040 R1216L probably damaging Het
Myo15 T A 11: 60,511,158 C3076S probably damaging Het
Olfr365 A T 2: 37,201,640 H133L possibly damaging Het
Olfr670 T A 7: 104,959,995 I246F probably benign Het
Polq C A 16: 37,061,112 P934T probably benign Het
Prkaa1 A T 15: 5,174,318 K227M probably damaging Het
Psap G A 10: 60,299,929 G388S probably benign Het
Repin1 A G 6: 48,596,905 E200G probably damaging Het
Samd9l C A 6: 3,375,863 S466I possibly damaging Het
Slc5a3 A G 16: 92,079,222 probably benign Het
Smg9 G A 7: 24,416,951 V314M probably damaging Het
Tktl1 G A X: 74,200,626 R352H probably benign Het
Ube2z A G 11: 96,063,023 V123A probably damaging Het
Vmn1r176 A T 7: 23,835,624 F35I probably benign Het
Zdhhc18 A T 4: 133,612,958 Y293N probably damaging Het
Other mutations in Ihh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02174:Ihh APN 1 74950946 missense probably damaging 0.98
Echidna UTSW 1 74946727 missense probably benign 0.08
R0047:Ihh UTSW 1 74946591 missense probably benign 0.01
R0047:Ihh UTSW 1 74946591 missense probably benign 0.01
R1404:Ihh UTSW 1 74951213 start codon destroyed probably null
R1404:Ihh UTSW 1 74951213 start codon destroyed probably null
R2936:Ihh UTSW 1 74946546 missense probably damaging 0.97
R4520:Ihh UTSW 1 74950950 missense probably damaging 1.00
R4540:Ihh UTSW 1 74948399 missense possibly damaging 0.94
R5399:Ihh UTSW 1 74946277 missense probably benign 0.00
R5736:Ihh UTSW 1 74946127 missense probably benign
R6026:Ihh UTSW 1 74946727 missense probably benign 0.08
R6073:Ihh UTSW 1 74951279 utr 5 prime probably benign
R6458:Ihh UTSW 1 74946442 missense probably damaging 1.00
R6489:Ihh UTSW 1 74946511 missense probably damaging 1.00
R7311:Ihh UTSW 1 74951147 missense unknown
R7350:Ihh UTSW 1 74948333 missense probably damaging 1.00
R7818:Ihh UTSW 1 74946645 missense possibly damaging 0.84
R7835:Ihh UTSW 1 74946366 missense probably damaging 0.98
R7918:Ihh UTSW 1 74946366 missense probably damaging 0.98
Z1176:Ihh UTSW 1 74946094 missense probably damaging 1.00
Posted On2013-06-21