Incidental Mutation 'R2201:Nhsl3'
ID 238644
Institutional Source Beutler Lab
Gene Symbol Nhsl3
Ensembl Gene ENSMUSG00000050390
Gene Name NHS like 3
Synonyms C77080
MMRRC Submission 040203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R2201 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129113371-129155194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129116432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 732 (V732A)
Ref Sequence ENSEMBL: ENSMUSP00000101666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054] [ENSMUST00000145261] [ENSMUST00000146376]
AlphaFold A2A7S8
Predicted Effect probably benign
Transcript: ENSMUST00000052602
AA Change: V789A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: V789A

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 benign
Transcript: ENSMUST00000097873
AA Change: V744A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: V744A

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 benign
Transcript: ENSMUST00000106051
AA Change: V732A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: V732A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,268 (GRCm39) N1121K probably null Het
Actr10 A G 12: 71,006,795 (GRCm39) N351D probably damaging Het
Adcy7 G A 8: 89,044,606 (GRCm39) A500T probably damaging Het
Ankrd35 T C 3: 96,586,564 (GRCm39) I80T possibly damaging Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cc2d2a T C 5: 43,841,375 (GRCm39) probably benign Het
Cep85l A T 10: 53,224,827 (GRCm39) M254K probably benign Het
Clic4 A G 4: 134,950,850 (GRCm39) S114P probably damaging Het
Ctsj T C 13: 61,150,363 (GRCm39) Y213C probably damaging Het
Ddx28 A G 8: 106,737,206 (GRCm39) V284A probably damaging Het
Dnase2b T A 3: 146,290,443 (GRCm39) D176V probably damaging Het
Dsg2 T A 18: 20,729,111 (GRCm39) N663K probably damaging Het
Dst T A 1: 34,235,002 (GRCm39) S3694T possibly damaging Het
Emilin1 T C 5: 31,073,036 (GRCm39) S158P probably benign Het
Eng T C 2: 32,563,752 (GRCm39) probably benign Het
Entrep2 T A 7: 64,409,141 (GRCm39) M418L probably benign Het
Fdxr C A 11: 115,161,208 (GRCm39) V223L probably benign Het
Fhip1b T C 7: 105,037,398 (GRCm39) N395S probably damaging Het
Frem2 T A 3: 53,423,994 (GRCm39) M3148L probably benign Het
Hip1 A T 5: 135,460,584 (GRCm39) D114E probably benign Het
Itga9 T C 9: 118,706,183 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,437,179 (GRCm39) N487K probably damaging Het
Krt6a A G 15: 101,601,606 (GRCm39) F172L probably benign Het
Megf8 C T 7: 25,040,170 (GRCm39) R1034W probably damaging Het
Muc6 C T 7: 141,236,075 (GRCm39) D451N probably damaging Het
Myo5a A G 9: 75,125,225 (GRCm39) T1838A possibly damaging Het
N4bp2l2 A T 5: 150,585,073 (GRCm39) D302E probably damaging Het
Nbeal2 T A 9: 110,459,318 (GRCm39) I1930F probably benign Het
Npas4 A T 19: 5,037,392 (GRCm39) Y301N probably benign Het
Nt5m A G 11: 59,766,741 (GRCm39) K211E probably benign Het
Pfn4 A G 12: 4,824,382 (GRCm39) probably null Het
Pfpl A C 19: 12,407,843 (GRCm39) D698A probably benign Het
Pias1 G T 9: 62,859,137 (GRCm39) H124N possibly damaging Het
Pja2 A T 17: 64,618,162 (GRCm39) probably benign Het
Polr3e T C 7: 120,531,465 (GRCm39) Y185H probably benign Het
Pomc T C 12: 4,010,275 (GRCm39) L172S probably benign Het
Rapgef4 A G 2: 71,875,533 (GRCm39) T129A probably damaging Het
Reep1 T C 6: 71,750,278 (GRCm39) S97P probably damaging Het
Rttn T A 18: 89,029,067 (GRCm39) I595N possibly damaging Het
Sap30 T C 8: 57,938,506 (GRCm39) probably null Het
Slc1a7 T C 4: 107,850,203 (GRCm39) Y105H probably damaging Het
Slc5a5 C T 8: 71,345,102 (GRCm39) M68I probably damaging Het
Stab2 T A 10: 86,776,503 (GRCm39) Y791F probably benign Het
Tdrd1 C A 19: 56,847,094 (GRCm39) H912N probably benign Het
Tdrd1 C A 19: 56,847,093 (GRCm39) S911R probably benign Het
Tgm7 A T 2: 120,929,062 (GRCm39) F278Y probably damaging Het
Tln2 T C 9: 67,283,039 (GRCm39) T310A probably damaging Het
Tmem256 T C 11: 69,730,271 (GRCm39) I93T probably benign Het
Trpm2 G A 10: 77,756,305 (GRCm39) Q1172* probably null Het
Ttll8 A G 15: 88,818,156 (GRCm39) V173A possibly damaging Het
Ubr5 T C 15: 38,002,543 (GRCm39) S1497G possibly damaging Het
Ubr7 G A 12: 102,727,764 (GRCm39) probably null Het
Vmn1r37 T A 6: 66,708,878 (GRCm39) M1K probably null Het
Vmn2r14 A G 5: 109,366,698 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,444 (GRCm39) I707V probably benign Het
Vps8 A G 16: 21,395,507 (GRCm39) R1266G probably damaging Het
Wdr87-ps T A 7: 29,235,950 (GRCm39) noncoding transcript Het
Zfhx4 A G 3: 5,307,349 (GRCm39) N192D probably damaging Het
Zfp638 G C 6: 83,906,500 (GRCm39) D222H probably damaging Het
Zscan29 A C 2: 120,999,883 (GRCm39) V106G probably damaging Het
Other mutations in Nhsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Nhsl3 APN 4 129,116,589 (GRCm39) splice site probably null
IGL02654:Nhsl3 APN 4 129,116,112 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGGGTTCGGAATCCCTGTG -3'
(R):5'- TGCCTCCAAAGATGAGTCACC -3'

Sequencing Primer
(F):5'- TTCGGAATCCCTGTGGAAGCAC -3'
(R):5'- GATGAGTCACCCCCACCATC -3'
Posted On 2014-10-02