Incidental Mutation 'IGL03120:Nhsl2'
ID409930
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 #IGL03120
Quality Score
Status
ChromosomeX
Chromosomal Location101849385-102092055 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102071333 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 97 (N97S)
Ref Sequence ENSEMBL: ENSMUSP00000098893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101339] [ENSMUST00000113631] [ENSMUST00000119076] [ENSMUST00000124279] [ENSMUST00000144753] [ENSMUST00000188731]
Predicted Effect probably benign
Transcript: ENSMUST00000101339
AA Change: N97S

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: N97S

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: ENSMUST00000113631
SMART Domains Protein: ENSMUSP00000109261
Gene: ENSMUSG00000049191

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
low complexity region 120 140 N/A INTRINSIC
Pfam:DUF4939 146 237 4.2e-15 PFAM
Pfam:Retrotrans_gag 195 288 5.8e-13 PFAM
SCOP:d1sig__ 349 492 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119076
SMART Domains Protein: ENSMUSP00000133001
Gene: ENSMUSG00000049191

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
low complexity region 120 140 N/A INTRINSIC
Pfam:Retrotrans_gag 195 288 9.3e-13 PFAM
SCOP:d1sig__ 349 492 6e-3 SMART
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 noncoding transcript
Transcript: ENSMUST00000139878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144397
Predicted Effect probably benign
Transcript: ENSMUST00000144753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155477
Predicted Effect probably benign
Transcript: ENSMUST00000188731
SMART Domains Protein: ENSMUSP00000139504
Gene: ENSMUSG00000049191

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
low complexity region 120 140 N/A INTRINSIC
Pfam:Retrotrans_gag 195 288 9.3e-13 PFAM
SCOP:d1sig__ 349 492 6e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik A G 9: 122,949,053 L42P probably benign Het
4932415D10Rik A G 10: 82,285,035 V77A possibly damaging Het
Cacna1e T C 1: 154,443,881 I1420V probably damaging Het
Corin T C 5: 72,360,689 Y263C probably damaging Het
Cyp4f15 A T 17: 32,690,764 I112F probably damaging Het
Dach1 T C 14: 97,827,789 E724G probably damaging Het
Dip2b T C 15: 100,203,127 probably benign Het
Dnah2 T A 11: 69,421,848 E4297V probably damaging Het
Dot1l A G 10: 80,786,273 probably benign Het
Endod1 C A 9: 14,357,035 V385F probably damaging Het
Etnppl A G 3: 130,620,692 T73A probably damaging Het
Frmd4b T A 6: 97,396,245 D104V possibly damaging Het
Gm884 T C 11: 103,616,975 probably benign Het
Gp5 T C 16: 30,308,198 I553V possibly damaging Het
Gpc5 A G 14: 115,370,144 E386G possibly damaging Het
Hbb-bs A G 7: 103,827,778 probably benign Het
Klra2 T A 6: 131,220,217 Y273F probably benign Het
Msto1 A T 3: 88,910,809 V366E probably damaging Het
Mtcl1 A G 17: 66,379,383 S843P probably damaging Het
Npm2 C A 14: 70,652,599 probably benign Het
Npr2 C T 4: 43,643,133 R506C probably damaging Het
Olfr661 A T 7: 104,688,402 Y129F probably benign Het
Olr1 T C 6: 129,488,935 E36G probably damaging Het
Pcdhb19 A G 18: 37,498,156 I335V probably benign Het
Pla2g6 T C 15: 79,286,860 D772G probably damaging Het
Ppfibp1 C A 6: 146,998,169 D119E probably benign Het
Prdm9 T C 17: 15,544,931 N529S probably benign Het
Rnf20 T A 4: 49,649,955 probably benign Het
Tmem132c T A 5: 127,563,384 V873E probably benign Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Ttn T C 2: 76,927,084 probably null Het
Vmn2r54 A G 7: 12,615,387 I756T probably damaging Het
Other mutations in Nhsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Nhsl2 APN X 102078252 missense probably damaging 1.00
IGL02901:Nhsl2 APN X 102079243 missense probably benign 0.25
IGL03038:Nhsl2 APN X 102078885 missense probably damaging 1.00
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 On2016-08-02