Incidental Mutation 'IGL03144:Nhsl2'
ID410817
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 #IGL03144
Quality Score
Status
ChromosomeX
Chromosomal Location101849385-102092055 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102079509 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 973 (R973G)
Ref Sequence ENSEMBL: ENSMUSP00000098893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101339] [ENSMUST00000124279] [ENSMUST00000144753]
Predicted Effect possibly damaging
Transcript: ENSMUST00000101339
AA Change: R973G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: R973G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C A 17: 24,381,964 Q451K probably benign Het
Acly A T 11: 100,515,083 D294E possibly damaging Het
Arid3a C T 10: 79,946,482 probably benign Het
Ascc3 T C 10: 50,767,443 V1830A probably benign Het
Atp6v1b1 T C 6: 83,758,351 V467A probably benign Het
Ccdc171 A T 4: 83,818,090 I1233L probably damaging Het
Ccdc74a C A 16: 17,648,866 Q146K possibly damaging Het
Cdh26 A G 2: 178,468,174 D420G probably damaging Het
Ceacam20 T C 7: 19,971,519 V145A possibly damaging Het
Cmya5 C A 13: 93,090,868 A2571S probably damaging Het
Cog2 T C 8: 124,541,024 S360P probably damaging Het
Col26a1 G T 5: 136,765,348 T132N probably damaging Het
Col6a2 T A 10: 76,614,425 H224L probably benign Het
Cpm C T 10: 117,683,414 S409L probably benign Het
Dock4 G T 12: 40,692,907 probably benign Het
Dpy19l2 T A 9: 24,646,307 N391Y possibly damaging Het
Exosc9 G A 3: 36,554,135 G126D probably damaging Het
Eya3 T C 4: 132,693,142 S256P probably benign Het
Fat3 T C 9: 16,375,245 D994G probably damaging Het
Fat4 A G 3: 38,956,859 Q2036R possibly damaging Het
Fryl T C 5: 73,101,455 Q662R probably null Het
Gm13271 A G 4: 88,755,399 R178G probably benign Het
Gpr165 T A X: 96,716,954 L279Q probably damaging Het
Htr1b A G 9: 81,631,945 L203P probably damaging Het
Kcnb2 T C 1: 15,709,888 L328P probably damaging Het
Klhl26 C T 8: 70,452,564 R198H probably damaging Het
Nmi A T 2: 51,952,534 F182Y probably damaging Het
Nop2 T A 6: 125,137,512 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr50 A G 2: 36,794,081 T282A probably benign Het
Ooep G T 9: 78,378,007 A109E possibly damaging Het
Pan3 T C 5: 147,450,781 probably benign Het
Pcdhb6 A G 18: 37,334,406 N127D probably damaging Het
Rabgap1 G A 2: 37,540,532 R695H probably damaging Het
Rxrg G A 1: 167,598,758 G3R possibly damaging Het
Slc17a3 T C 13: 23,846,440 M178T probably benign Het
Slc39a8 A G 3: 135,884,210 E287G probably benign Het
Slc44a5 G T 3: 154,243,540 D217Y possibly damaging Het
Slc4a10 G T 2: 62,250,466 V346L probably benign Het
Slc9a4 T C 1: 40,612,202 Y547H probably damaging Het
St6galnac3 A C 3: 153,205,527 Y266D probably damaging Het
Stard6 A T 18: 70,476,111 Y3F possibly damaging Het
Stk25 C A 1: 93,629,136 L53F probably damaging Het
Tep1 A T 14: 50,844,017 probably benign Het
Tmem151a T A 19: 5,085,372 M1L probably benign Het
Trim10 T C 17: 36,876,848 S319P probably damaging Het
Trmt44 G T 5: 35,564,422 P466T probably benign Het
Unc79 T C 12: 103,042,142 I256T probably damaging Het
Vmn2r125 G T 4: 156,350,019 L33F possibly 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
IGL03120:Nhsl2 APN X 102071333 missense probably benign 0.14
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