Incidental Mutation 'R1404:Ihh'
ID500224
Institutional Source Beutler Lab
Gene Symbol Ihh
Ensembl Gene ENSMUSG00000006538
Gene NameIndian hedgehog
Synonyms
MMRRC Submission 039466-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1404 (G1)
Quality Score160
Status Not validated
Chromosome1
Chromosomal Location74945315-74951672 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 74951213 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000128056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164097]
Predicted Effect probably null
Transcript: ENSMUST00000164097
AA Change: M1K
SMART Domains Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: M1K

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: 99.0%
  • 3x: 96.4%
  • 10x: 81.1%
  • 20x: 48.7%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 A G 13: 80,883,854 T69A probably damaging Het
Bbs2 T C 8: 94,081,999 K360R probably null Het
Cdh8 A T 8: 99,279,618 N112K probably damaging Het
Ces5a A T 8: 93,502,181 F474I probably damaging Het
Doxl2 A T 6: 48,975,833 T231S probably benign Het
Dync1i1 G A 6: 5,915,876 D253N probably damaging Het
Fam151b T C 13: 92,473,972 D103G probably damaging Het
Fam227b A G 2: 126,003,839 L410P probably damaging Het
Gm17535 A G 9: 3,035,804 Y224C probably null Het
Itga6 A G 2: 71,838,716 T617A probably benign Het
Itpr1 T A 6: 108,386,648 C744S probably benign Het
Kif5a T C 10: 127,245,442 I208V probably benign Het
Lama4 A G 10: 39,061,391 K659R probably benign Het
Lpin3 T A 2: 160,892,390 probably null Het
Macf1 T A 4: 123,376,516 E6612V probably damaging Het
Ncdn T C 4: 126,750,040 K330E probably benign Het
Neb C T 2: 52,183,275 D1975N possibly damaging Het
Nell1 T A 7: 50,853,873 N675K possibly damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,924,113 probably benign Het
Olfr1317 G A 2: 112,142,623 R226H probably benign Het
Rnf43 A G 11: 87,734,177 E737G possibly damaging Het
Sardh C A 2: 27,239,461 W275L probably damaging Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Sipa1l2 G A 8: 125,449,973 H1185Y probably damaging Het
Skp2 G A 15: 9,116,925 Q298* probably null Het
Stk4 C T 2: 164,100,528 T360M probably benign Het
Stx12 T A 4: 132,871,649 I43L probably benign Het
Tmc1 T A 19: 20,816,184 I538F possibly damaging Het
Tollip T C 7: 141,884,555 M209V probably benign Het
Ttn A T 2: 76,812,968 S13202R probably damaging Het
Vmn2r60 T A 7: 42,136,787 V338D probably damaging Het
Vwa8 T C 14: 79,026,031 L767P probably damaging Het
Zfp202 C T 9: 40,211,496 T518I probably damaging Het
Other mutations in Ihh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ihh APN 1 74946442 missense probably damaging 1.00
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
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
R8085:Ihh UTSW 1 74951094 missense unknown
Z1176:Ihh UTSW 1 74946094 missense probably damaging 1.00
Predicted Primers
Posted On2017-12-01