Incidental Mutation 'R8008:Nhsl1'
ID 616751
Institutional Source Beutler Lab
Gene Symbol Nhsl1
Ensembl Gene ENSMUSG00000039835
Gene Name NHS like 1
Synonyms A630035H13Rik, 5730409E15Rik, D10Bwg0940e
MMRRC Submission 046048-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 18194733-18409640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18284186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
Ref Sequence ENSEMBL: ENSMUSP00000040799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037341] [ENSMUST00000207038]
AlphaFold Q8CAF4
Predicted Effect probably damaging
Transcript: ENSMUST00000037341
AA Change: D42E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: D42E

DomainStartEndE-ValueType
Pfam:NHS 258 906 1.6e-246 PFAM
low complexity region 918 938 N/A INTRINSIC
low complexity region 942 950 N/A INTRINSIC
low complexity region 958 970 N/A INTRINSIC
low complexity region 992 1024 N/A INTRINSIC
low complexity region 1171 1197 N/A INTRINSIC
low complexity region 1373 1385 N/A INTRINSIC
low complexity region 1442 1460 N/A INTRINSIC
low complexity region 1484 1503 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207038
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Coro2a A T 4: 46,551,349 (GRCm39) S119T probably damaging Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpi1 G T 7: 33,917,726 (GRCm39) N249K probably damaging Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nr0b2 C A 4: 133,283,339 (GRCm39) A192E probably benign Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pmp22 C T 11: 63,049,233 (GRCm39) R159C probably damaging Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim21 G T 7: 102,209,183 (GRCm39) T280K probably benign Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G unknown Het
Other mutations in Nhsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Nhsl1 APN 10 18,403,357 (GRCm39) missense probably benign 0.07
IGL01121:Nhsl1 APN 10 18,387,458 (GRCm39) missense probably damaging 1.00
IGL01775:Nhsl1 APN 10 18,400,222 (GRCm39) missense probably damaging 0.99
IGL02143:Nhsl1 APN 10 18,387,383 (GRCm39) missense possibly damaging 0.74
IGL02606:Nhsl1 APN 10 18,387,385 (GRCm39) missense probably damaging 1.00
IGL02642:Nhsl1 APN 10 18,284,138 (GRCm39) missense possibly damaging 0.96
IGL02866:Nhsl1 APN 10 18,403,355 (GRCm39) missense probably damaging 0.99
IGL03263:Nhsl1 APN 10 18,373,827 (GRCm39) nonsense probably null
IGL03380:Nhsl1 APN 10 18,399,627 (GRCm39) nonsense probably null
PIT4651001:Nhsl1 UTSW 10 18,284,183 (GRCm39) missense probably damaging 0.98
R0046:Nhsl1 UTSW 10 18,401,417 (GRCm39) missense probably damaging 1.00
R0046:Nhsl1 UTSW 10 18,401,417 (GRCm39) missense probably damaging 1.00
R0116:Nhsl1 UTSW 10 18,400,990 (GRCm39) nonsense probably null
R0245:Nhsl1 UTSW 10 18,400,856 (GRCm39) missense probably damaging 1.00
R0254:Nhsl1 UTSW 10 18,348,733 (GRCm39) missense probably damaging 1.00
R0288:Nhsl1 UTSW 10 18,399,794 (GRCm39) missense probably damaging 1.00
R0648:Nhsl1 UTSW 10 18,407,474 (GRCm39) missense possibly damaging 0.92
R1055:Nhsl1 UTSW 10 18,401,223 (GRCm39) missense probably benign 0.08
R1300:Nhsl1 UTSW 10 18,284,209 (GRCm39) missense probably benign
R1384:Nhsl1 UTSW 10 18,284,261 (GRCm39) missense probably null 0.96
R1453:Nhsl1 UTSW 10 18,407,323 (GRCm39) missense probably damaging 1.00
R1523:Nhsl1 UTSW 10 18,284,103 (GRCm39) missense probably benign
R1595:Nhsl1 UTSW 10 18,402,096 (GRCm39) missense probably damaging 0.98
R1786:Nhsl1 UTSW 10 18,400,412 (GRCm39) missense probably benign 0.28
R1836:Nhsl1 UTSW 10 18,400,653 (GRCm39) missense possibly damaging 0.87
R1878:Nhsl1 UTSW 10 18,400,027 (GRCm39) missense probably damaging 1.00
R2013:Nhsl1 UTSW 10 18,387,340 (GRCm39) missense probably damaging 1.00
R2014:Nhsl1 UTSW 10 18,387,340 (GRCm39) missense probably damaging 1.00
R2015:Nhsl1 UTSW 10 18,387,340 (GRCm39) missense probably damaging 1.00
R3115:Nhsl1 UTSW 10 18,400,916 (GRCm39) missense probably damaging 1.00
R3116:Nhsl1 UTSW 10 18,400,916 (GRCm39) missense probably damaging 1.00
R3754:Nhsl1 UTSW 10 18,391,782 (GRCm39) missense probably damaging 0.99
R4342:Nhsl1 UTSW 10 18,402,437 (GRCm39) missense probably damaging 1.00
R4595:Nhsl1 UTSW 10 18,403,357 (GRCm39) missense probably benign 0.07
R4604:Nhsl1 UTSW 10 18,407,158 (GRCm39) missense probably damaging 0.99
R4666:Nhsl1 UTSW 10 18,407,153 (GRCm39) missense probably damaging 1.00
R5223:Nhsl1 UTSW 10 18,402,074 (GRCm39) missense probably damaging 1.00
R5258:Nhsl1 UTSW 10 18,400,070 (GRCm39) nonsense probably null
R5707:Nhsl1 UTSW 10 18,402,251 (GRCm39) missense probably damaging 1.00
R5796:Nhsl1 UTSW 10 18,399,998 (GRCm39) missense probably benign 0.06
R5960:Nhsl1 UTSW 10 18,402,724 (GRCm39) missense probably benign
R6190:Nhsl1 UTSW 10 18,345,789 (GRCm39) intron probably benign
R6272:Nhsl1 UTSW 10 18,400,253 (GRCm39) missense probably benign 0.01
R6677:Nhsl1 UTSW 10 18,401,610 (GRCm39) missense probably damaging 0.98
R6714:Nhsl1 UTSW 10 18,400,459 (GRCm39) missense possibly damaging 0.74
R6765:Nhsl1 UTSW 10 18,407,062 (GRCm39) missense probably benign 0.01
R6892:Nhsl1 UTSW 10 18,400,091 (GRCm39) missense probably damaging 1.00
R7049:Nhsl1 UTSW 10 18,407,386 (GRCm39) missense probably damaging 0.99
R7060:Nhsl1 UTSW 10 18,402,251 (GRCm39) missense probably damaging 1.00
R7236:Nhsl1 UTSW 10 18,401,512 (GRCm39) missense probably damaging 1.00
R7299:Nhsl1 UTSW 10 18,403,419 (GRCm39) splice site probably null
R7305:Nhsl1 UTSW 10 18,407,434 (GRCm39) missense possibly damaging 0.94
R7513:Nhsl1 UTSW 10 18,399,700 (GRCm39) missense probably damaging 1.00
R7566:Nhsl1 UTSW 10 18,391,867 (GRCm39) missense probably damaging 1.00
R8135:Nhsl1 UTSW 10 18,407,180 (GRCm39) missense probably damaging 1.00
R8240:Nhsl1 UTSW 10 18,402,487 (GRCm39) missense probably benign 0.34
R8391:Nhsl1 UTSW 10 18,400,691 (GRCm39) missense possibly damaging 0.67
R8396:Nhsl1 UTSW 10 18,400,910 (GRCm39) missense probably benign 0.00
R8752:Nhsl1 UTSW 10 18,407,113 (GRCm39) missense probably benign 0.01
R9022:Nhsl1 UTSW 10 18,403,409 (GRCm39) missense possibly damaging 0.74
R9087:Nhsl1 UTSW 10 18,407,030 (GRCm39) missense probably damaging 1.00
R9360:Nhsl1 UTSW 10 18,194,898 (GRCm39) missense probably damaging 1.00
R9396:Nhsl1 UTSW 10 18,399,749 (GRCm39) missense probably damaging 1.00
R9665:Nhsl1 UTSW 10 18,401,599 (GRCm39) missense possibly damaging 0.53
R9673:Nhsl1 UTSW 10 18,402,665 (GRCm39) missense possibly damaging 0.87
Z1177:Nhsl1 UTSW 10 18,402,337 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCAAGGATCCCGGCCAATTC -3'
(R):5'- AATGGTACTTAGCTCCAGCAC -3'

Sequencing Primer
(F):5'- GGATCCCGGCCAATTCTAAAAAG -3'
(R):5'- CTGATGGAGCAGGAGAGGAC -3'
Posted On 2020-01-23