Incidental Mutation 'IGL02023:Nhsl2'
ID184027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhsl2
Ensembl Gene ENSMUSG00000079481
Gene NameNHS-like 2
SynonymsGm10456, 1110062M06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.043) question?
Stock #IGL02023
Quality Score
Status
ChromosomeX
Chromosomal Location101849385-102092055 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102078252 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 554 (R554G)
Ref Sequence ENSEMBL: ENSMUSP00000098893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101339] [ENSMUST00000124279] [ENSMUST00000144753]
Predicted Effect probably damaging
Transcript: ENSMUST00000101339
AA Change: R554G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: R554G

DomainStartEndE-ValueType
low complexity region 48 62 N/A INTRINSIC
low complexity region 68 84 N/A INTRINSIC
low complexity region 135 155 N/A INTRINSIC
Pfam:NHS 494 613 3.8e-11 PFAM
Pfam:NHS 607 771 1.5e-25 PFAM
low complexity region 827 836 N/A INTRINSIC
low complexity region 935 952 N/A INTRINSIC
low complexity region 989 1002 N/A INTRINSIC
low complexity region 1145 1160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124279
SMART Domains Protein: ENSMUSP00000116112
Gene: ENSMUSG00000079481

DomainStartEndE-ValueType
low complexity region 48 62 N/A INTRINSIC
low complexity region 68 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129185
Predicted Effect probably benign
Transcript: ENSMUST00000144753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155477
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Nhsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02901:Nhsl2 APN X 102079243 missense probably benign 0.25
IGL03038:Nhsl2 APN X 102078885 missense probably damaging 1.00
IGL03120:Nhsl2 APN X 102071333 missense probably benign 0.14
IGL03144:Nhsl2 APN X 102079509 missense possibly damaging 0.94
R3076:Nhsl2 UTSW X 102077595 missense probably damaging 0.98
R3077:Nhsl2 UTSW X 102077595 missense probably damaging 0.98
R3078:Nhsl2 UTSW X 102077595 missense probably damaging 0.98
Posted On2014-05-07