Incidental Mutation 'IGL02654:Nhsl3'
ID 302275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhsl3
Ensembl Gene ENSMUSG00000050390
Gene Name NHS like 3
Synonyms C77080
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL02654
Quality Score
Status
Chromosome 4
Chromosomal Location 129113371-129155194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129116112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 851 (G851R)
Ref Sequence ENSEMBL: ENSMUSP00000095483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054] [ENSMUST00000145261] [ENSMUST00000146376]
AlphaFold A2A7S8
Predicted Effect probably damaging
Transcript: ENSMUST00000052602
AA Change: G896R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: G896R

DomainStartEndE-ValueType
low complexity region 2 30 N/A INTRINSIC
low complexity region 39 80 N/A INTRINSIC
low complexity region 209 215 N/A INTRINSIC
low complexity region 273 286 N/A INTRINSIC
low complexity region 365 382 N/A INTRINSIC
low complexity region 393 418 N/A INTRINSIC
low complexity region 449 464 N/A INTRINSIC
low complexity region 492 499 N/A INTRINSIC
low complexity region 532 550 N/A INTRINSIC
low complexity region 555 588 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
low complexity region 657 690 N/A INTRINSIC
low complexity region 724 739 N/A INTRINSIC
low complexity region 743 773 N/A INTRINSIC
low complexity region 810 833 N/A INTRINSIC
low complexity region 916 930 N/A INTRINSIC
low complexity region 988 1020 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097873
AA Change: G851R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: G851R

DomainStartEndE-ValueType
low complexity region 164 170 N/A INTRINSIC
low complexity region 228 241 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
low complexity region 348 373 N/A INTRINSIC
low complexity region 404 419 N/A INTRINSIC
low complexity region 447 454 N/A INTRINSIC
low complexity region 487 505 N/A INTRINSIC
low complexity region 510 543 N/A INTRINSIC
low complexity region 576 589 N/A INTRINSIC
low complexity region 612 645 N/A INTRINSIC
low complexity region 679 694 N/A INTRINSIC
low complexity region 698 728 N/A INTRINSIC
low complexity region 765 788 N/A INTRINSIC
low complexity region 871 885 N/A INTRINSIC
low complexity region 943 975 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106051
AA Change: G839R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: G839R

DomainStartEndE-ValueType
low complexity region 152 158 N/A INTRINSIC
low complexity region 216 229 N/A INTRINSIC
low complexity region 308 325 N/A INTRINSIC
low complexity region 336 361 N/A INTRINSIC
low complexity region 392 407 N/A INTRINSIC
low complexity region 435 442 N/A INTRINSIC
low complexity region 475 493 N/A INTRINSIC
low complexity region 498 531 N/A INTRINSIC
low complexity region 564 577 N/A INTRINSIC
low complexity region 600 633 N/A INTRINSIC
low complexity region 667 682 N/A INTRINSIC
low complexity region 686 716 N/A INTRINSIC
low complexity region 753 776 N/A INTRINSIC
low complexity region 859 873 N/A INTRINSIC
low complexity region 931 963 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106054
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:tRNA-synt_1b 67 358 1e-78 PFAM
Pfam:tRNA_bind 406 502 7.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137591
Predicted Effect probably benign
Transcript: ENSMUST00000145261
Predicted Effect probably benign
Transcript: ENSMUST00000146376
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,977,826 (GRCm39) I468T possibly damaging Het
Actmap A G 7: 26,903,298 (GRCm39) E289G probably damaging Het
Anxa13 A G 15: 58,205,397 (GRCm39) noncoding transcript Het
Arhgef33 A G 17: 80,677,740 (GRCm39) Y429C probably damaging Het
Bdh1 T C 16: 31,275,433 (GRCm39) probably benign Het
Dennd4a A G 9: 64,817,473 (GRCm39) probably benign Het
Dld G T 12: 31,383,916 (GRCm39) H396N probably benign Het
Dsg1b T C 18: 20,542,319 (GRCm39) V942A probably damaging Het
Eln A T 5: 134,745,908 (GRCm39) probably benign Het
Fat3 G A 9: 15,908,271 (GRCm39) T2577M possibly damaging Het
Gad1 A T 2: 70,403,125 (GRCm39) K73M possibly damaging Het
Gipc1 T C 8: 84,389,780 (GRCm39) V253A probably damaging Het
Gtpbp10 A C 5: 5,593,372 (GRCm39) probably benign Het
Hgf A T 5: 16,766,049 (GRCm39) T62S probably benign Het
Hivep1 T C 13: 42,311,161 (GRCm39) S1134P probably damaging Het
Hnrnpc A G 14: 52,321,574 (GRCm39) L80S probably damaging Het
Kif20a G A 18: 34,765,076 (GRCm39) R770H probably damaging Het
Lcat T C 8: 106,666,401 (GRCm39) T374A possibly damaging Het
Mlana A G 19: 29,682,018 (GRCm39) probably null Het
Nynrin A G 14: 56,100,716 (GRCm39) I169V possibly damaging Het
Or2ag15 A T 7: 106,340,555 (GRCm39) Y195* probably null Het
P3h3 A G 6: 124,822,228 (GRCm39) V585A possibly damaging Het
Pcdhb17 T A 18: 37,619,614 (GRCm39) M468K probably benign Het
Prl8a2 T G 13: 27,536,780 (GRCm39) I134S possibly damaging Het
Rev3l T C 10: 39,738,730 (GRCm39) V2828A probably damaging Het
Rhbdd1 G T 1: 82,320,504 (GRCm39) V163F probably benign Het
Rrp1 A G 10: 78,248,773 (GRCm39) V5A probably benign Het
Sephs1 A T 2: 4,889,366 (GRCm39) N48I probably benign Het
Speer4a3 T A 5: 26,158,205 (GRCm39) H49L probably benign Het
Vmn1r71 A G 7: 10,482,242 (GRCm39) Y149H probably benign Het
Wiz T C 17: 32,578,324 (GRCm39) D396G probably damaging Het
Xirp2 A G 2: 67,345,015 (GRCm39) S2419G possibly damaging Het
Zfp128 A G 7: 12,618,606 (GRCm39) T35A possibly damaging Het
Zmym2 T A 14: 57,148,772 (GRCm39) F362Y probably damaging Het
Other mutations in Nhsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Nhsl3 APN 4 129,116,589 (GRCm39) splice site probably null
IGL02797:Nhsl3 APN 4 129,117,104 (GRCm39) missense probably damaging 0.99
IGL03231:Nhsl3 APN 4 129,117,474 (GRCm39) missense possibly damaging 0.73
IGL03134:Nhsl3 UTSW 4 129,116,280 (GRCm39) missense possibly damaging 0.53
R0078:Nhsl3 UTSW 4 129,121,516 (GRCm39) splice site probably null
R0418:Nhsl3 UTSW 4 129,117,477 (GRCm39) missense probably damaging 1.00
R1374:Nhsl3 UTSW 4 129,116,082 (GRCm39) missense possibly damaging 0.83
R1632:Nhsl3 UTSW 4 129,116,459 (GRCm39) missense possibly damaging 0.94
R1735:Nhsl3 UTSW 4 129,117,370 (GRCm39) missense probably damaging 1.00
R1970:Nhsl3 UTSW 4 129,119,810 (GRCm39) splice site probably benign
R2018:Nhsl3 UTSW 4 129,116,148 (GRCm39) missense probably damaging 0.96
R2157:Nhsl3 UTSW 4 129,117,917 (GRCm39) missense possibly damaging 0.76
R2201:Nhsl3 UTSW 4 129,116,432 (GRCm39) missense probably benign
R2316:Nhsl3 UTSW 4 129,117,540 (GRCm39) missense probably damaging 1.00
R3751:Nhsl3 UTSW 4 129,118,115 (GRCm39) unclassified probably benign
R4648:Nhsl3 UTSW 4 129,115,733 (GRCm39) missense probably benign 0.00
R4790:Nhsl3 UTSW 4 129,117,095 (GRCm39) missense probably damaging 1.00
R4885:Nhsl3 UTSW 4 129,118,238 (GRCm39) missense probably damaging 1.00
R5217:Nhsl3 UTSW 4 129,116,478 (GRCm39) missense probably damaging 0.99
R5270:Nhsl3 UTSW 4 129,118,005 (GRCm39) missense possibly damaging 0.48
R5272:Nhsl3 UTSW 4 129,118,005 (GRCm39) missense possibly damaging 0.48
R5273:Nhsl3 UTSW 4 129,118,005 (GRCm39) missense possibly damaging 0.48
R5314:Nhsl3 UTSW 4 129,118,005 (GRCm39) missense possibly damaging 0.48
R5548:Nhsl3 UTSW 4 129,117,773 (GRCm39) frame shift probably null
R5752:Nhsl3 UTSW 4 129,117,773 (GRCm39) frame shift probably null
R5908:Nhsl3 UTSW 4 129,115,941 (GRCm39) missense probably damaging 0.98
R5960:Nhsl3 UTSW 4 129,115,865 (GRCm39) missense probably damaging 0.99
R7024:Nhsl3 UTSW 4 129,119,201 (GRCm39) missense probably null 0.73
R7296:Nhsl3 UTSW 4 129,119,211 (GRCm39) missense probably damaging 1.00
R7447:Nhsl3 UTSW 4 129,115,835 (GRCm39) missense possibly damaging 0.63
R7638:Nhsl3 UTSW 4 129,115,734 (GRCm39) missense probably benign
R7689:Nhsl3 UTSW 4 129,117,566 (GRCm39) missense probably benign 0.25
R7819:Nhsl3 UTSW 4 129,116,276 (GRCm39) missense probably benign 0.31
R8213:Nhsl3 UTSW 4 129,115,252 (GRCm39) missense possibly damaging 0.64
R8219:Nhsl3 UTSW 4 129,141,946 (GRCm39) missense possibly damaging 0.55
R8348:Nhsl3 UTSW 4 129,117,699 (GRCm39) missense probably damaging 1.00
R8360:Nhsl3 UTSW 4 129,117,995 (GRCm39) missense possibly damaging 0.89
R8788:Nhsl3 UTSW 4 129,119,743 (GRCm39) missense probably benign
R9252:Nhsl3 UTSW 4 129,117,269 (GRCm39) missense probably benign 0.01
R9652:Nhsl3 UTSW 4 129,117,962 (GRCm39) missense possibly damaging 0.90
Z1088:Nhsl3 UTSW 4 129,116,091 (GRCm39) missense probably damaging 1.00
Z1176:Nhsl3 UTSW 4 129,117,497 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16