Incidental Mutation 'IGL02901:Nhsl2'
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ID363601
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 #IGL02901
Quality Score
Status
ChromosomeX
Chromosomal Location101849385-102092055 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102079243 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 884 (V884D)
Ref Sequence ENSEMBL: ENSMUSP00000098893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101339] [ENSMUST00000124279] [ENSMUST00000144753]
Predicted Effect probably benign
Transcript: ENSMUST00000101339
AA Change: V884D

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: V884D

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,604 Y189N probably damaging Het
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
BC051665 A T 13: 60,784,718 V51E probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Misp A T 10: 79,826,937 Y396F possibly damaging Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr120 T A 17: 37,726,420 I132K probably damaging Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prpf38a T C 4: 108,568,418 D221G probably damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 W53R probably damaging Het
Other mutations in Nhsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Nhsl2 APN X 102078252 missense probably damaging 1.00
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 On2015-12-18