Incidental Mutation 'IGL03218:Nsdhl'
ID413567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsdhl
Ensembl Gene ENSMUSG00000031349
Gene NameNAD(P) dependent steroid dehydrogenase-like
Synonymsbare patches, striated, Bpa, Str, H105E3, XAP104
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03218
Quality Score
Status
ChromosomeX
Chromosomal Location72918557-72958514 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 72956446 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033715]
Predicted Effect probably benign
Transcript: ENSMUST00000033715
SMART Domains Protein: ENSMUSP00000033715
Gene: ENSMUSG00000031349

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 27 284 1.1e-12 PFAM
Pfam:Polysacc_synt_2 29 140 3.7e-9 PFAM
Pfam:Epimerase 29 256 2e-36 PFAM
Pfam:GDP_Man_Dehyd 30 260 1.9e-19 PFAM
Pfam:3Beta_HSD 30 286 2e-64 PFAM
Pfam:NAD_binding_4 54 235 1.6e-6 PFAM
low complexity region 288 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155663
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygous females exhibit a striped coat or skin hyperkeratotic lesions leaving bare patches on the coat, with some mutations also resulting in skeletal dysplasia and eye defects. Hemizygous male and homozygous female mice die before birth, presumably due to placental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,484,663 probably null Het
Acot9 T A X: 155,295,211 V251E possibly damaging Het
Agtpbp1 A G 13: 59,500,207 S600P possibly damaging Het
Amfr A T 8: 94,000,336 M157K probably damaging Het
Arvcf T C 16: 18,404,125 probably benign Het
Ascc3 T C 10: 50,823,853 V1924A possibly damaging Het
Atp10a T A 7: 58,788,448 probably null Het
Atp1a2 T A 1: 172,289,303 E249V probably null Het
C1qc A G 4: 136,890,287 L166P probably damaging Het
Col4a3 C A 1: 82,643,206 probably benign Het
Def8 A G 8: 123,456,436 D258G probably damaging Het
Dll1 T C 17: 15,373,568 D179G probably benign Het
Dnah14 C A 1: 181,755,269 H3124Q probably benign Het
Fabp5 T A 3: 10,014,963 probably benign Het
Fam133b C T 5: 3,554,684 Q24* probably null Het
Fam13c A C 10: 70,448,769 D25A possibly damaging Het
Flna A G X: 74,234,602 probably null Het
Frem1 T A 4: 82,914,646 T1917S probably benign Het
Frmd4b T C 6: 97,308,114 T337A probably benign Het
Fxyd7 C T 7: 31,044,570 probably null Het
Galnt5 T G 2: 57,999,389 S334A possibly damaging Het
Gm10220 T C 5: 26,118,698 K117R probably damaging Het
Gpd2 T A 2: 57,307,054 L207H probably damaging Het
H2-M10.3 T A 17: 36,367,387 Y182F probably damaging Het
Itga8 T C 2: 12,111,025 I1018V possibly damaging Het
Letmd1 T C 15: 100,469,828 F89S probably damaging Het
Mcm3ap A G 10: 76,482,733 Y696C probably damaging Het
Mcpt9 A G 14: 56,027,451 Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 V29A probably benign Het
Myom1 A G 17: 71,084,316 D940G possibly damaging Het
Myzap A G 9: 71,555,589 M225T probably benign Het
Naa25 A G 5: 121,426,070 Y516C probably damaging Het
Olfml1 A G 7: 107,571,269 E121G possibly damaging Het
Olfr1085 A G 2: 86,658,359 I33T probably benign Het
Olfr1245 A G 2: 89,575,591 V45A probably benign Het
Olfr736 A T 14: 50,393,658 M301L probably damaging Het
Phex C T X: 157,178,787 G636E probably damaging Het
Pkd2l2 A T 18: 34,430,320 I475F probably damaging Het
Polr2b T A 5: 77,315,917 S54T probably benign Het
Prkx A T X: 77,786,200 L85Q probably damaging Het
Smc1b A T 15: 85,089,713 I914N probably benign Het
Susd2 A G 10: 75,642,625 L39P probably benign Het
Teddm2 C T 1: 153,851,024 V35I probably benign Het
Tspo T A 15: 83,571,430 V6E possibly damaging Het
Vps41 G T 13: 18,829,270 V353F possibly damaging Het
Wfdc18 T A 11: 83,709,207 probably null Het
Wsb1 C T 11: 79,248,498 S124N probably damaging Het
Zfp445 T C 9: 122,857,529 E177G probably benign Het
Zfp759 G T 13: 67,139,416 V344L probably benign Het
Posted On2016-08-02