Incidental Mutation 'R8788:Nhsl3'
ID 670744
Institutional Source Beutler Lab
Gene Symbol Nhsl3
Ensembl Gene ENSMUSG00000050390
Gene Name NHS like 3
Synonyms C77080
MMRRC Submission 068607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8788 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129113371-129155194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129119743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000062395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000145261] [ENSMUST00000146376]
AlphaFold A2A7S8
Predicted Effect probably benign
Transcript: ENSMUST00000052602
AA Change: V97A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: V97A

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: V52A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: V52A

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: V40A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: V40A

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: ENSMUST00000145261
Predicted Effect probably benign
Transcript: ENSMUST00000146376
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A T 10: 69,718,256 (GRCm39) L502F unknown Het
Btbd8 A G 5: 107,618,853 (GRCm39) *252W probably null Het
Btnl9 T A 11: 49,066,614 (GRCm39) M336L probably benign Het
Cd72 T C 4: 43,450,185 (GRCm39) E241G probably benign Het
Cdh23 T A 10: 60,324,372 (GRCm39) N296I probably damaging Het
Celf6 C A 9: 59,485,750 (GRCm39) S30R possibly damaging Het
Crxos T C 7: 15,632,499 (GRCm39) Y102H probably benign Het
Csmd3 A T 15: 47,470,513 (GRCm39) S2477T Het
Evi2a T A 11: 79,418,531 (GRCm39) R26S probably benign Het
Ezr T C 17: 7,021,392 (GRCm39) M182V probably benign Het
Fat2 G T 11: 55,171,929 (GRCm39) A2928D possibly damaging Het
Fetub A T 16: 22,758,182 (GRCm39) K322* probably null Het
Fscb T C 12: 64,518,395 (GRCm39) T1024A unknown Het
Gdpd1 A G 11: 86,950,318 (GRCm39) V85A probably damaging Het
Gm38119 G T 3: 92,645,537 (GRCm39) P19H unknown Het
Gpr182 T C 10: 127,586,529 (GRCm39) T141A probably benign Het
Inpp5d G A 1: 87,611,484 (GRCm39) G312D probably damaging Het
Kif26b G A 1: 178,357,090 (GRCm39) probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Maf T A 8: 116,432,612 (GRCm39) I331F probably damaging Het
Mark3 C A 12: 111,613,124 (GRCm39) S529R probably benign Het
Mmp10 A G 9: 7,502,687 (GRCm39) probably benign Het
Mrps30 T C 13: 118,523,538 (GRCm39) E78G possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or4c116 T C 2: 88,942,626 (GRCm39) T77A probably benign Het
Pcdh12 G A 18: 38,416,109 (GRCm39) L339F probably benign Het
Pdgfd A G 9: 6,377,000 (GRCm39) S365G probably benign Het
Piezo1 T C 8: 123,228,533 (GRCm39) M281V Het
Prkg2 C T 5: 99,117,839 (GRCm39) E501K probably damaging Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rfx7 T C 9: 72,524,795 (GRCm39) S662P probably benign Het
Ric8a A G 7: 140,438,806 (GRCm39) T252A probably benign Het
Sbf1 C T 15: 89,186,062 (GRCm39) R984H probably damaging Het
Sel1l3 G T 5: 53,332,148 (GRCm39) Y412* probably null Het
Slc17a6 G A 7: 51,298,908 (GRCm39) A224T probably damaging Het
Slco1a8 A T 6: 141,933,570 (GRCm39) V425D probably benign Het
Smarca4 T C 9: 21,550,024 (GRCm39) I378T probably damaging Het
Tatdn1 T C 15: 58,762,543 (GRCm39) *265W probably null Het
Tcaf2 A G 6: 42,606,472 (GRCm39) L494P probably damaging Het
Tcl1b2 T C 12: 105,113,380 (GRCm39) L11P probably benign Het
Thrb A G 14: 18,002,558 (GRCm38) E119G probably damaging Het
Tll2 T C 19: 41,109,814 (GRCm39) T317A probably benign Het
Tob2 AGATGATGA AGATGA 15: 81,735,928 (GRCm39) probably benign Het
Upk1b A G 16: 38,607,463 (GRCm39) L88P probably damaging Het
Uri1 T C 7: 37,661,003 (GRCm39) I30V Het
Ush2a A T 1: 188,475,816 (GRCm39) R2918* probably null Het
Vax1 T C 19: 59,158,247 (GRCm39) D72G unknown Het
Vmn2r38 C A 7: 9,078,482 (GRCm39) M633I probably benign Het
Vmn2r95 A G 17: 18,671,790 (GRCm39) D581G probably benign Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Xrcc6 C T 15: 81,911,583 (GRCm39) L309F probably damaging Het
Xrra1 A G 7: 99,555,761 (GRCm39) Y376C probably benign Het
Zfp329 T C 7: 12,544,490 (GRCm39) T345A possibly damaging Het
Zfp574 T A 7: 24,779,816 (GRCm39) N279K unknown Het
Zfp804b T C 5: 6,822,635 (GRCm39) M143V 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
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
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'- AGAAGGGTCTGTTGGCCAAG -3'
(R):5'- TATATGTGCCCTCCGGTGTAGTTC -3'

Sequencing Primer
(F):5'- GCCAAGCCCCTGACCCAG -3'
(R):5'- TACATGGGATAAGAATGTGTCTAGGC -3'
Posted On 2021-04-30