Incidental Mutation 'R8752:Nhsl1'
ID 663923
Institutional Source Beutler Lab
Gene Symbol Nhsl1
Ensembl Gene ENSMUSG00000039835
Gene Name NHS like 1
Synonyms A630035H13Rik, 5730409E15Rik, D10Bwg0940e
MMRRC Submission 068595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8752 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 18194733-18409640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18407113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1416 (N1416D)
Ref Sequence ENSEMBL: ENSMUSP00000147021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037341] [ENSMUST00000100054] [ENSMUST00000207038]
AlphaFold Q8CAF4
Predicted Effect probably benign
Transcript: ENSMUST00000037341
AA Change: N1386D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: N1386D

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: ENSMUST00000100054
AA Change: N1382D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: N1382D

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 197 207 N/A INTRINSIC
Pfam:NHS 253 902 7.3e-250 PFAM
low complexity region 914 934 N/A INTRINSIC
low complexity region 938 946 N/A INTRINSIC
low complexity region 954 966 N/A INTRINSIC
low complexity region 988 1020 N/A INTRINSIC
low complexity region 1167 1193 N/A INTRINSIC
low complexity region 1369 1381 N/A INTRINSIC
low complexity region 1438 1456 N/A INTRINSIC
low complexity region 1480 1499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207038
AA Change: N1416D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,704,396 (GRCm39) K82R probably damaging Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Adam29 A T 8: 56,325,328 (GRCm39) C375* probably null Het
Adat2 A T 10: 13,432,604 (GRCm39) E35D probably benign Het
Afm A C 5: 90,700,424 (GRCm39) E600D probably benign Het
Ahnak T A 19: 8,992,901 (GRCm39) D4728E probably damaging Het
Ak7 AAGGAG AAG 12: 105,713,476 (GRCm39) probably benign Het
Ankrd28 C A 14: 31,477,699 (GRCm39) probably benign Het
Ankrd31 A T 13: 96,916,879 (GRCm39) H131L probably damaging Het
Ano5 T C 7: 51,196,617 (GRCm39) F183L probably damaging Het
Asah1 G A 8: 41,813,314 (GRCm39) S33L possibly damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccdc47 A G 11: 106,095,818 (GRCm39) Y293H probably damaging Het
Cd302 A G 2: 60,102,529 (GRCm39) F30S probably damaging Het
Ces1c C G 8: 93,846,964 (GRCm39) A243P probably damaging Het
Deptor A T 15: 55,044,280 (GRCm39) T149S probably benign Het
Dnah14 G A 1: 181,455,581 (GRCm39) R902H probably benign Het
Dnah5 A G 15: 28,290,365 (GRCm39) I1252V probably benign Het
Dnah7c A G 1: 46,711,701 (GRCm39) I2643V probably benign Het
Dnajc4 C T 19: 6,966,801 (GRCm39) V177I probably benign Het
Efhc1 A T 1: 21,059,692 (GRCm39) N581Y probably benign Het
Espl1 A G 15: 102,214,759 (GRCm39) T767A probably damaging Het
Etv6 A G 6: 134,243,391 (GRCm39) E382G probably benign Het
Foxd4 A T 19: 24,878,094 (GRCm39) D35E probably damaging Het
Gata2 T C 6: 88,177,513 (GRCm39) V181A possibly damaging Het
Gm5114 A T 7: 39,057,927 (GRCm39) M564K probably damaging Het
Gpr45 A T 1: 43,071,842 (GRCm39) I162F possibly damaging Het
Hic1 A G 11: 75,060,206 (GRCm39) F47S probably benign Het
Hsf1 C A 15: 76,384,344 (GRCm39) S417* probably null Het
Id4 A T 13: 48,415,065 (GRCm39) H31L possibly damaging Het
Il12rb2 T C 6: 67,328,265 (GRCm39) S322G probably damaging Het
Lcn11 T C 2: 25,668,138 (GRCm39) Y99H probably damaging Het
Mipol1 G A 12: 57,372,367 (GRCm39) R142Q probably damaging Het
Mpp2 A G 11: 101,976,129 (GRCm39) S10P probably benign Het
Muc15 A T 2: 110,561,758 (GRCm39) N65Y possibly damaging Het
Nav3 T C 10: 109,596,165 (GRCm39) probably benign Het
Ndst3 C T 3: 123,342,684 (GRCm39) R709Q probably damaging Het
Nek11 G T 9: 105,225,207 (GRCm39) Q102K probably benign Het
Or13p3 A C 4: 118,567,083 (GRCm39) T160P probably damaging Het
Or2v1 T A 11: 49,025,505 (GRCm39) V162E possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or5p72 T C 7: 108,022,480 (GRCm39) I234T probably benign Het
Or5w20 T C 2: 87,726,591 (GRCm39) I16T possibly damaging Het
Parp4 G T 14: 56,886,073 (GRCm39) E1717D unknown Het
Pla2g4d A T 2: 120,099,248 (GRCm39) probably null Het
Pramel52-ps A T 5: 94,529,354 (GRCm39) R41S possibly damaging Het
Psmc2 A G 5: 22,001,533 (GRCm39) I107V probably benign Het
Rhod G T 19: 4,476,121 (GRCm39) T210N probably damaging Het
Setx A T 2: 29,048,992 (GRCm39) D2006V probably damaging Het
Sfpq T A 4: 126,919,969 (GRCm39) M541K possibly damaging Het
Sorbs1 C T 19: 40,349,872 (GRCm39) probably null Het
Sv2b C A 7: 74,855,842 (GRCm39) M149I possibly damaging Het
Svil T A 18: 5,060,366 (GRCm39) probably benign Het
Vmn1r216 G T 13: 23,283,880 (GRCm39) V188F probably damaging Het
Vmn2r27 A G 6: 124,201,018 (GRCm39) F313S probably benign Het
Vmn2r44 A G 7: 8,370,805 (GRCm39) F747S probably damaging Het
Vmn2r95 T C 17: 18,661,738 (GRCm39) S495P probably damaging Het
Xpo5 C T 17: 46,547,838 (GRCm39) probably benign Het
Zscan20 A C 4: 128,479,480 (GRCm39) C1004G probably damaging 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
R8008:Nhsl1 UTSW 10 18,284,186 (GRCm39) missense probably damaging 0.96
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
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'- ATCAGAGAAGCTCTTGGGCTC -3'
(R):5'- ACCTAGATCTCTGGAAGCGAG -3'

Sequencing Primer
(F):5'- AAGCTCTTGGGCTCGTCTTTAATG -3'
(R):5'- AGGGTCCGTAGACTTGAGCATC -3'
Posted On 2021-03-08