Incidental Mutation 'IGL03136:Dhcr7'
ID 410536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhcr7
Ensembl Gene ENSMUSG00000058454
Gene Name 7-dehydrocholesterol reductase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03136
Quality Score
Status
Chromosome 7
Chromosomal Location 143376882-143402147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143401103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 422 (H422R)
Ref Sequence ENSEMBL: ENSMUSP00000121782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073878] [ENSMUST00000124340] [ENSMUST00000141916] [ENSMUST00000143338] [ENSMUST00000144034] [ENSMUST00000207143] [ENSMUST00000145471]
AlphaFold O88455
Predicted Effect probably damaging
Transcript: ENSMUST00000073878
AA Change: H422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: H422R

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 36 471 1.5e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124340
AA Change: H422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: H422R

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 36 471 1.5e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128610
Predicted Effect probably damaging
Transcript: ENSMUST00000141916
AA Change: H422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: H422R

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 36 471 1.5e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143338
SMART Domains Protein: ENSMUSP00000119984
Gene: ENSMUSG00000058454

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 174 196 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144034
SMART Domains Protein: ENSMUSP00000118957
Gene: ENSMUSG00000058454

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:ERG4_ERG24 75 225 1.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207143
AA Change: H425R

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000145471
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 an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Ftsj3 C T 11: 106,144,639 (GRCm39) D117N probably damaging Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ift52 G T 2: 162,867,254 (GRCm39) E71* probably null Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or2aj4 A T 16: 19,385,103 (GRCm39) F177I probably damaging Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Or8d6 T C 9: 39,854,332 (GRCm39) Y259H probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Selenoi T C 5: 30,462,725 (GRCm39) Y197H probably damaging Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Treml1 T G 17: 48,671,879 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* probably null Het
Other mutations in Dhcr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Dhcr7 APN 7 143,400,805 (GRCm39) missense probably damaging 0.99
IGL01398:Dhcr7 APN 7 143,395,056 (GRCm39) missense probably damaging 0.99
IGL01668:Dhcr7 APN 7 143,397,048 (GRCm39) missense probably damaging 1.00
IGL01822:Dhcr7 APN 7 143,399,236 (GRCm39) missense probably damaging 1.00
IGL02332:Dhcr7 APN 7 143,396,865 (GRCm39) missense probably damaging 1.00
IGL03334:Dhcr7 APN 7 143,394,234 (GRCm39) missense possibly damaging 0.80
R0350:Dhcr7 UTSW 7 143,391,507 (GRCm39) missense probably damaging 1.00
R0433:Dhcr7 UTSW 7 143,394,200 (GRCm39) missense possibly damaging 0.92
R0834:Dhcr7 UTSW 7 143,394,964 (GRCm39) missense probably benign 0.19
R1473:Dhcr7 UTSW 7 143,400,805 (GRCm39) missense probably damaging 0.99
R1473:Dhcr7 UTSW 7 143,395,105 (GRCm39) missense probably damaging 1.00
R1769:Dhcr7 UTSW 7 143,401,250 (GRCm39) missense probably damaging 1.00
R1773:Dhcr7 UTSW 7 143,401,195 (GRCm39) missense possibly damaging 0.87
R1997:Dhcr7 UTSW 7 143,401,167 (GRCm39) missense probably damaging 0.99
R2302:Dhcr7 UTSW 7 143,391,629 (GRCm39) missense probably benign 0.00
R4177:Dhcr7 UTSW 7 143,394,910 (GRCm39) missense probably damaging 1.00
R4275:Dhcr7 UTSW 7 143,396,964 (GRCm39) missense probably damaging 1.00
R4829:Dhcr7 UTSW 7 143,391,654 (GRCm39) missense probably damaging 1.00
R4860:Dhcr7 UTSW 7 143,394,237 (GRCm39) missense probably benign 0.05
R4860:Dhcr7 UTSW 7 143,394,237 (GRCm39) missense probably benign 0.05
R4944:Dhcr7 UTSW 7 143,391,528 (GRCm39) missense probably damaging 0.96
R5000:Dhcr7 UTSW 7 143,395,060 (GRCm39) missense possibly damaging 0.94
R5454:Dhcr7 UTSW 7 143,391,576 (GRCm39) missense probably damaging 1.00
R5633:Dhcr7 UTSW 7 143,401,160 (GRCm39) missense probably damaging 0.99
R6337:Dhcr7 UTSW 7 143,390,468 (GRCm39) critical splice donor site probably null
R6683:Dhcr7 UTSW 7 143,397,048 (GRCm39) missense probably damaging 0.99
R7175:Dhcr7 UTSW 7 143,399,227 (GRCm39) missense probably damaging 1.00
R7785:Dhcr7 UTSW 7 143,399,209 (GRCm39) missense probably damaging 1.00
R8947:Dhcr7 UTSW 7 143,400,959 (GRCm39) missense probably damaging 1.00
R9006:Dhcr7 UTSW 7 143,394,978 (GRCm39) missense probably benign
R9052:Dhcr7 UTSW 7 143,395,060 (GRCm39) missense possibly damaging 0.79
R9629:Dhcr7 UTSW 7 143,401,212 (GRCm39) nonsense probably null
Posted On 2016-08-02