Incidental Mutation 'IGL00900:Dhh'
ID29028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhh
Ensembl Gene ENSMUSG00000023000
Gene Namedesert hedgehog
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.623) question?
Stock #IGL00900
Quality Score
Status
Chromosome15
Chromosomal Location98891152-98898540 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 98898220 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023737] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229775]
Predicted Effect unknown
Transcript: ENSMUST00000023737
AA Change: L18P
SMART Domains Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: L18P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:HH_signal 23 185 2.1e-86 PFAM
Pfam:Peptidase_M15_3 129 185 5.9e-8 PFAM
HintN 197 304 1.29e-25 SMART
HintC 305 349 1.89e-9 SMART
low complexity region 358 374 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229352
Predicted Effect probably benign
Transcript: ENSMUST00000229508
Predicted Effect probably benign
Transcript: ENSMUST00000229556
Predicted Effect unknown
Transcript: ENSMUST00000229775
AA Change: L18P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230242
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. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mutants are male sterile, failing to produce mature spermatozoa; peripheral nerves are abnormal, with thin and disorganized perineurial sheaths. High penetrance of pseudohermaphroditism observed on some mixed backgrounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Dhh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Dhh APN 15 98897983 missense probably damaging 1.00
IGL02728:Dhh APN 15 98894311 splice site probably null
R0096:Dhh UTSW 15 98893988 missense probably benign 0.00
R1294:Dhh UTSW 15 98894383 missense probably benign 0.00
R1842:Dhh UTSW 15 98894560 splice site probably null
R4351:Dhh UTSW 15 98898218 unclassified probably benign
R4727:Dhh UTSW 15 98898142 missense probably damaging 0.99
R4744:Dhh UTSW 15 98894258 missense possibly damaging 0.86
R5120:Dhh UTSW 15 98898157 missense probably benign 0.05
R6419:Dhh UTSW 15 98894401 missense probably damaging 1.00
R6630:Dhh UTSW 15 98894366 missense possibly damaging 0.86
R7031:Dhh UTSW 15 98894026 missense possibly damaging 0.84
R7032:Dhh UTSW 15 98894026 missense possibly damaging 0.84
R7330:Dhh UTSW 15 98894410 missense probably damaging 1.00
X0060:Dhh UTSW 15 98894309 missense possibly damaging 0.95
Z1088:Dhh UTSW 15 98894909 missense probably benign 0.01
Posted On2013-04-17