Incidental Mutation 'R7330:Dhh'
ID 569211
Institutional Source Beutler Lab
Gene Symbol Dhh
Ensembl Gene ENSMUSG00000023000
Gene Name desert hedgehog
Synonyms
MMRRC Submission 045423-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R7330 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 98789033-98796421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98792291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 239 (V239A)
Ref Sequence ENSEMBL: ENSMUSP00000023737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023737] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229775]
AlphaFold Q61488
Predicted Effect probably damaging
Transcript: ENSMUST00000023737
AA Change: V239A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: V239A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,977,450 (GRCm39) T411A possibly damaging Het
Ace A G 11: 105,876,887 (GRCm39) H1123R probably damaging Het
Acot12 T A 13: 91,889,651 (GRCm39) M1K probably null Het
Actr2 A T 11: 20,022,544 (GRCm39) M309K probably damaging Het
Ahsa2 G T 11: 23,440,558 (GRCm39) T279K probably benign Het
Ak8 A G 2: 28,702,947 (GRCm39) Y437C possibly damaging Het
Atp1a3 T A 7: 24,700,577 (GRCm39) K5* probably null Het
Bbs2 T A 8: 94,814,033 (GRCm39) E195V possibly damaging Het
C4b T A 17: 34,949,446 (GRCm39) Y1505F probably damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Cdh18 G A 15: 23,227,036 (GRCm39) V166I possibly damaging Het
Cep135 T A 5: 76,754,592 (GRCm39) C356* probably null Het
Cilp A T 9: 65,187,527 (GRCm39) R1207S probably benign Het
Clcnkb A G 4: 141,137,923 (GRCm39) I291T possibly damaging Het
Clrn3 G T 7: 135,130,198 (GRCm39) S12Y probably damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cpvl A G 6: 53,951,744 (GRCm39) I13T probably benign Het
Cyp2c68 A G 19: 39,677,634 (GRCm39) I452T probably damaging Het
Edar T G 10: 58,446,376 (GRCm39) H183P probably damaging Het
Epha2 T A 4: 141,035,764 (GRCm39) S67T probably benign Het
Gapdh A G 6: 125,139,900 (GRCm39) L168P probably benign Het
Grm4 C T 17: 27,653,798 (GRCm39) W717* probably null Het
Gtf3c1 T C 7: 125,303,055 (GRCm39) I127V probably benign Het
Igkv4-72 C T 6: 69,204,087 (GRCm39) A35T probably damaging Het
Il6st T A 13: 112,630,185 (GRCm39) S344T probably benign Het
Ip6k1 A G 9: 107,922,452 (GRCm39) D168G possibly damaging Het
Itpr1 G A 6: 108,415,292 (GRCm39) R1742H probably benign Het
Lat2 T A 5: 134,635,641 (GRCm39) T58S probably damaging Het
Limk2 T C 11: 3,296,311 (GRCm39) K566E probably benign Het
Lonp2 C A 8: 87,358,022 (GRCm39) T81K probably damaging Het
Mdn1 C A 4: 32,723,685 (GRCm39) N2540K probably benign Het
Myt1l T A 12: 29,901,553 (GRCm39) D769E unknown Het
Neb C T 2: 52,079,715 (GRCm39) V5780M possibly damaging Het
Or1j18 T A 2: 36,625,057 (GRCm39) C241* probably null Het
Or5d35 C A 2: 87,855,265 (GRCm39) H66Q possibly damaging Het
Or6c8b C T 10: 128,882,333 (GRCm39) V200M probably damaging Het
Or7g25 T A 9: 19,160,567 (GRCm39) I43F probably benign Het
Pcdhga12 T C 18: 37,901,439 (GRCm39) V757A probably damaging Het
Prpf31 A G 7: 3,642,854 (GRCm39) T448A probably damaging Het
Rbm6 A T 9: 107,668,244 (GRCm39) M694K possibly damaging Het
Ropn1l T C 15: 31,451,349 (GRCm39) Y45C Het
Selenbp1 T A 3: 94,847,021 (GRCm39) D182E probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Spef1 G A 2: 131,014,653 (GRCm39) R90W probably damaging Het
Sspo A G 6: 48,452,396 (GRCm39) S2787G probably benign Het
Stox2 A G 8: 47,645,271 (GRCm39) S730P possibly damaging Het
Syne1 T C 10: 5,078,434 (GRCm39) N997S probably benign Het
Tipin A G 9: 64,195,508 (GRCm39) D38G probably benign Het
Tshz1 T A 18: 84,032,956 (GRCm39) K484M probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 A AAGTAC 6: 113,376,125 (GRCm39) probably null Het
Ttn C T 2: 76,747,355 (GRCm39) V4565I probably benign Het
Ubr7 A G 12: 102,741,971 (GRCm39) I402V probably damaging Het
Ucn3 A T 13: 3,991,216 (GRCm39) N145K possibly damaging Het
Utp18 A T 11: 93,772,899 (GRCm39) probably null Het
Utp20 GAA GA 10: 88,623,424 (GRCm39) probably null Het
Vmn1r189 A G 13: 22,286,711 (GRCm39) I42T possibly damaging Het
Vmn2r91 T C 17: 18,326,429 (GRCm39) M238T probably damaging Het
Washc5 G T 15: 59,205,516 (GRCm39) A1125D probably benign Het
Wsb2 A G 5: 117,508,827 (GRCm39) E87G probably damaging Het
Zfat G A 15: 68,084,600 (GRCm39) P97L probably benign Het
Zfp87 T G 13: 74,523,153 (GRCm39) T22P 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
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
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
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'- TGACTCTCTAGAACCGCGTAG -3'
(R):5'- TGGCTGATCCGGACTTAATCC -3'

Sequencing Primer
(F):5'- ACGTCGTTGACCAGCAG -3'
(R):5'- ATCCTTTTTATAATTGTGGCTTGCAG -3'
Posted On 2019-09-13