Incidental Mutation 'R7031:Dhh'
ID 546345
Institutional Source Beutler Lab
Gene Symbol Dhh
Ensembl Gene ENSMUSG00000023000
Gene Name desert hedgehog
Synonyms
MMRRC Submission 045132-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R7031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 98789033-98796421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98791907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 367 (G367E)
Ref Sequence ENSEMBL: ENSMUSP00000023737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023737] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229775]
AlphaFold Q61488
Predicted Effect possibly damaging
Transcript: ENSMUST00000023737
AA Change: G367E

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: G367E

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 probably benign
Transcript: ENSMUST00000229508
Predicted Effect probably benign
Transcript: ENSMUST00000229556
Predicted Effect probably benign
Transcript: ENSMUST00000229775
Meta Mutation Damage Score 0.4438 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,058 (GRCm39) N39S probably benign Het
Abca13 C T 11: 9,571,892 (GRCm39) R4818C probably damaging Het
Acadsb A G 7: 131,045,366 (GRCm39) I433V probably benign Het
Acsl3 T A 1: 78,666,000 (GRCm39) I142N probably benign Het
Api5 G A 2: 94,255,961 (GRCm39) T242M probably benign Het
Brme1 C A 8: 84,893,313 (GRCm39) P160Q possibly damaging Het
Ccdc88c T C 12: 100,911,323 (GRCm39) E37G probably damaging Het
Cfap96 T C 8: 46,421,140 (GRCm39) I128V probably benign Het
Cntnap4 C A 8: 113,584,874 (GRCm39) Q1104K probably benign Het
Cry1 A G 10: 84,984,526 (GRCm39) S183P probably benign Het
Cuzd1 A T 7: 130,910,580 (GRCm39) F572I probably benign Het
Dcbld1 A T 10: 52,166,985 (GRCm39) D104V probably damaging Het
Dhx15 T C 5: 52,341,931 (GRCm39) D129G probably benign Het
Drd3 T A 16: 43,582,861 (GRCm39) V86E probably damaging Het
Ebf1 A G 11: 44,512,795 (GRCm39) T135A possibly damaging Het
Epha5 T C 5: 84,290,159 (GRCm39) I428V probably benign Het
Epx T A 11: 87,766,349 (GRCm39) probably benign Het
Fam83d T A 2: 158,627,227 (GRCm39) N305K probably benign Het
Gchfr T A 2: 119,000,236 (GRCm39) V39D probably benign Het
Ggnbp2 A G 11: 84,751,467 (GRCm39) L111P probably damaging Het
Gnal G A 18: 67,355,659 (GRCm39) G340D probably damaging Het
Gpat2 A G 2: 127,277,395 (GRCm39) E745G probably damaging Het
Gpbp1l1 C T 4: 116,450,045 (GRCm39) R438C probably damaging Het
Hmgxb4 C T 8: 75,756,200 (GRCm39) Q171* probably null Het
Igkv4-91 G T 6: 68,745,542 (GRCm39) R119S possibly damaging Het
Ing2 T C 8: 48,121,858 (GRCm39) D230G probably benign Het
Itfg2 A G 6: 128,393,017 (GRCm39) V82A probably damaging Het
Klhl22 T C 16: 17,594,890 (GRCm39) S340P probably damaging Het
Lipm A T 19: 34,093,871 (GRCm39) M263L probably benign Het
Ly96 A T 1: 16,758,787 (GRCm39) E19V possibly damaging Het
Mark1 C T 1: 184,644,829 (GRCm39) E376K possibly damaging Het
Mlip T A 9: 77,045,835 (GRCm39) M375L probably benign Het
Mug1 A T 6: 121,815,673 (GRCm39) N26Y probably benign Het
Or2ad1 C T 13: 21,327,170 (GRCm39) S19N probably benign Het
Or55b3 T A 7: 102,127,057 (GRCm39) T7S probably benign Het
Or5m3 C T 2: 85,838,939 (GRCm39) A273V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rb1cc1 T C 1: 6,308,690 (GRCm39) probably null Het
Rgs4 T C 1: 169,571,336 (GRCm39) T178A probably benign Het
Sel1l2 T A 2: 140,182,043 (GRCm39) K31N possibly damaging Het
Serpinf1 T C 11: 75,301,022 (GRCm39) R398G probably damaging Het
Sgo2b C T 8: 64,393,078 (GRCm39) E120K possibly damaging Het
Stard9 T C 2: 120,530,931 (GRCm39) F2396S possibly damaging Het
Trgv6 G A 13: 19,374,610 (GRCm39) E25K probably benign Het
Trpc3 A C 3: 36,675,459 (GRCm39) I893S probably benign Het
Trpc4ap C A 2: 155,534,135 (GRCm39) R31L unknown Het
Vat1l A G 8: 114,998,172 (GRCm39) R239G possibly damaging Het
Vmn1r56 T A 7: 5,199,261 (GRCm39) R119* probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Zfp664 A G 5: 124,963,070 (GRCm39) T155A probably benign 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
R0096:Dhh UTSW 15 98,791,869 (GRCm39) missense probably benign 0.00
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
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'- AGAAGTTCCTAGTACAGCCCAC -3'
(R):5'- TGACTTTGCACCGGTGTTC -3'

Sequencing Primer
(F):5'- GAAGTTCCTAGTACAGCCCACCTTTC -3'
(R):5'- TTACGTGCTGGCGACTCG -3'
Posted On 2019-05-13