Incidental Mutation 'R4885:Nhsl3'
ID 375629
Institutional Source Beutler Lab
Gene Symbol Nhsl3
Ensembl Gene ENSMUSG00000050390
Gene Name NHS like 3
Synonyms C77080
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129113371-129155194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129118238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 214 (R214Q)
Ref Sequence ENSEMBL: ENSMUSP00000062395 (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: R214Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: R214Q

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: R169Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: R169Q

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: R157Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: R157Q

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 probably benign
Transcript: ENSMUST00000145261
Predicted Effect probably benign
Transcript: ENSMUST00000146376
Meta Mutation Damage Score 0.1146 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign 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
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
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'- ATGACAGCCTCTGCATCTGTG -3'
(R):5'- TCTTAAAGAAAGCACGCACG -3'

Sequencing Primer
(F):5'- TGTCCCTAAGGCCAGACC -3'
(R):5'- GCACGCACGAGTACTTTATTAG -3'
Posted On 2016-03-17