Incidental Mutation 'R0096:Dhh'
ID 155841
Institutional Source Beutler Lab
Gene Symbol Dhh
Ensembl Gene ENSMUSG00000023000
Gene Name desert hedgehog
Synonyms
MMRRC Submission 038382-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R0096 (G1)
Quality Score 51
Status Validated
Chromosome 15
Chromosomal Location 98789033-98796421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98791869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 380 (M380L)
Ref Sequence ENSEMBL: ENSMUSP00000023737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023737] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229775]
AlphaFold Q61488
Predicted Effect probably benign
Transcript: ENSMUST00000023737
AA Change: M380L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: M380L

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 probably benign
Transcript: ENSMUST00000229775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230242
Meta Mutation Damage Score 0.1685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.5%
Validation Efficiency 100% (69/69)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamts3 G A 5: 89,849,576 (GRCm39) Q615* probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Anks1b T C 10: 89,909,924 (GRCm39) S48P possibly damaging Het
Aoc1l2 A C 6: 48,908,122 (GRCm39) Q374P probably damaging Het
Arfip2 T A 7: 105,287,437 (GRCm39) K94N probably damaging Het
Arhgap42 G T 9: 9,009,314 (GRCm39) N524K probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Arid4b T C 13: 14,303,779 (GRCm39) V68A probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Capn3 A T 2: 120,333,010 (GRCm39) H592L possibly damaging Het
Dglucy A T 12: 100,804,910 (GRCm39) I134F possibly damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dthd1 A T 5: 63,000,383 (GRCm39) R568S possibly damaging Het
Efr3a A G 15: 65,727,290 (GRCm39) N613S probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Fam120c CCAGCAGCAGCAGCAGCA CCAGCAGCAGCAGCA X: 150,127,341 (GRCm39) probably benign Het
Fbrs C T 7: 127,088,659 (GRCm39) A145V probably damaging Het
Gm4736 T C 6: 132,092,569 (GRCm39) noncoding transcript Het
Gm9873 A T 2: 168,863,029 (GRCm39) noncoding transcript Het
Grik1 T C 16: 87,831,114 (GRCm39) M219V possibly damaging Het
Gtsf1l C T 2: 162,929,456 (GRCm39) C9Y probably damaging Het
Itih5 G A 2: 10,256,189 (GRCm39) R885Q probably benign Het
Kdm4c A G 4: 74,275,580 (GRCm39) E752G probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lama1 T A 17: 68,112,408 (GRCm39) F2283I probably benign Het
Luc7l3 A G 11: 94,192,320 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Map1a A G 2: 121,131,986 (GRCm39) E696G probably damaging Het
Mrps34 A G 17: 25,114,643 (GRCm39) D110G probably damaging Het
Myh11 T A 16: 14,022,231 (GRCm39) K1710M possibly damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Nos1ap T C 1: 170,156,816 (GRCm39) D214G probably damaging Het
Or4c119 A T 2: 88,986,640 (GRCm39) M293K probably benign Het
Or8b46 A T 9: 38,450,832 (GRCm39) I214F probably damaging Het
Pate4 T G 9: 35,523,130 (GRCm39) T5P probably damaging Het
Pygl A T 12: 70,237,940 (GRCm39) probably benign Het
Samd4 A T 14: 47,301,754 (GRCm39) M252L possibly damaging Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Sis A T 3: 72,835,600 (GRCm39) W921R probably damaging Het
Skint5 A T 4: 113,454,965 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Sycp2 G T 2: 178,045,528 (GRCm39) Q31K probably damaging Het
Taar7f A G 10: 23,926,152 (GRCm39) M249V probably benign Het
Tarm1 T C 7: 3,546,067 (GRCm39) T79A probably benign Het
Tektl1 T A 10: 78,584,539 (GRCm39) I328L probably benign Het
Trf A G 9: 103,099,358 (GRCm39) F300L probably damaging Het
Vmn1r69 T A 7: 10,313,985 (GRCm39) I170F probably damaging Het
Vmn2r105 A G 17: 20,447,741 (GRCm39) F361S possibly damaging Het
Vmn2r79 A G 7: 86,686,527 (GRCm39) Y636C probably damaging Het
Wdr59 T C 8: 112,231,005 (GRCm39) N68D probably damaging Het
Zfp345 T A 2: 150,314,220 (GRCm39) H439L probably damaging Het
Other mutations in Dhh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Dhh APN 15 98,796,101 (GRCm39) unclassified probably benign
IGL01845:Dhh APN 15 98,795,864 (GRCm39) missense probably damaging 1.00
IGL02728:Dhh APN 15 98,792,192 (GRCm39) splice site probably null
R1294:Dhh UTSW 15 98,792,264 (GRCm39) missense probably benign 0.00
R1842:Dhh UTSW 15 98,792,441 (GRCm39) splice site probably null
R4351:Dhh UTSW 15 98,796,099 (GRCm39) unclassified probably benign
R4727:Dhh UTSW 15 98,796,023 (GRCm39) missense probably damaging 0.99
R4744:Dhh UTSW 15 98,792,139 (GRCm39) missense possibly damaging 0.86
R5120:Dhh UTSW 15 98,796,038 (GRCm39) missense probably benign 0.05
R6419:Dhh UTSW 15 98,792,282 (GRCm39) missense probably damaging 1.00
R6630:Dhh UTSW 15 98,792,247 (GRCm39) missense possibly damaging 0.86
R7031:Dhh UTSW 15 98,791,907 (GRCm39) missense possibly damaging 0.84
R7032:Dhh UTSW 15 98,791,907 (GRCm39) missense possibly damaging 0.84
R7330:Dhh UTSW 15 98,792,291 (GRCm39) missense probably damaging 1.00
R8975:Dhh UTSW 15 98,795,976 (GRCm39) missense probably damaging 1.00
R9228:Dhh UTSW 15 98,795,757 (GRCm39) nonsense probably null
R9755:Dhh UTSW 15 98,792,939 (GRCm39) missense possibly damaging 0.53
X0060:Dhh UTSW 15 98,792,190 (GRCm39) missense possibly damaging 0.95
Z1088:Dhh UTSW 15 98,792,790 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACCACTCTTCTCGGGTAAAAGTTGC -3'
(R):5'- AAACTGTTGCTCACACCCTGGC -3'

Sequencing Primer
(F):5'- CTCGGGTAAAAGTTGCCTAAAC -3'
(R):5'- TCCAGGTGACTTTGCACCG -3'
Posted On 2014-02-07