Incidental Mutation 'R6892:Nhsl1'
ID 538114
Institutional Source Beutler Lab
Gene Symbol Nhsl1
Ensembl Gene ENSMUSG00000039835
Gene Name NHS like 1
Synonyms A630035H13Rik, 5730409E15Rik, D10Bwg0940e
MMRRC Submission 044986-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6892 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 18194733-18409640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18400091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 439 (T439I)
Ref Sequence ENSEMBL: ENSMUSP00000147021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037341] [ENSMUST00000100054] [ENSMUST00000162891] [ENSMUST00000207038]
AlphaFold Q8CAF4
Predicted Effect probably damaging
Transcript: ENSMUST00000037341
AA Change: T409I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: T409I

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 damaging
Transcript: ENSMUST00000100054
AA Change: T405I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: T405I

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 damaging
Transcript: ENSMUST00000162891
AA Change: T405I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: T405I

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 197 207 N/A INTRINSIC
Pfam:NHS 253 902 2.1e-250 PFAM
low complexity region 914 934 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000207038
AA Change: T439I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1682 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik C A 10: 81,018,978 (GRCm39) probably benign Het
4933421I07Rik T C 7: 42,095,831 (GRCm39) Q139R probably benign Het
A930002H24Rik C T 17: 64,170,759 (GRCm39) V10M unknown Het
Acvr2a T A 2: 48,787,087 (GRCm39) L394Q probably damaging Het
Ano6 T C 15: 95,865,505 (GRCm39) Y830H probably damaging Het
Atp8b4 T A 2: 126,184,922 (GRCm39) I914F possibly damaging Het
Bltp3b G A 10: 89,640,985 (GRCm39) V719I probably benign Het
Cab39 A G 1: 85,776,098 (GRCm39) D265G probably damaging Het
Capn5 A T 7: 97,785,148 (GRCm39) W109R probably damaging Het
Cdk18 G T 1: 132,049,848 (GRCm39) T44K probably benign Het
Cdt1 T A 8: 123,296,951 (GRCm39) N248K probably damaging Het
Cpa4 G T 6: 30,583,628 (GRCm39) R248L probably benign Het
Cpt1a G A 19: 3,421,660 (GRCm39) V481M probably benign Het
Cyp3a11 G A 5: 145,797,258 (GRCm39) L374F probably damaging Het
Dcdc2a A G 13: 25,240,443 (GRCm39) N64D probably damaging Het
Dmxl1 G A 18: 50,053,969 (GRCm39) R2525Q probably damaging Het
Dscaml1 G A 9: 45,595,128 (GRCm39) V744M probably damaging Het
Dync1h1 G A 12: 110,605,335 (GRCm39) E2391K probably benign Het
Ezh1 A T 11: 101,090,187 (GRCm39) Y522* probably null Het
Fzd3 G C 14: 65,447,330 (GRCm39) A533G possibly damaging Het
Gm14403 T G 2: 177,201,040 (GRCm39) C329G probably damaging Het
Gm17067 A C 7: 42,360,099 (GRCm39) probably null Het
Gm38119 A G 3: 92,645,529 (GRCm39) C22R unknown Het
Grep1 A G 17: 23,931,328 (GRCm39) L193P probably damaging Het
Gtf3c3 A G 1: 54,455,100 (GRCm39) S588P probably benign Het
Ift140 A G 17: 25,239,520 (GRCm39) E59G possibly damaging Het
Ints1 A T 5: 139,753,583 (GRCm39) M683K probably damaging Het
Iws1 A G 18: 32,219,327 (GRCm39) M470V probably damaging Het
Mptx1 A G 1: 174,159,831 (GRCm39) R46G probably benign Het
Or10a49 A G 7: 108,467,722 (GRCm39) L213P probably damaging Het
Peg3 C T 7: 6,711,898 (GRCm39) S1108N possibly damaging Het
Pgm1 A G 4: 99,786,905 (GRCm39) E48G probably benign Het
Pkhd1 G A 1: 20,593,739 (GRCm39) T1458I probably damaging Het
Polr1a A T 6: 71,941,696 (GRCm39) D1068V possibly damaging Het
Ptprq T C 10: 107,411,865 (GRCm39) T1834A probably benign Het
Rapgef1 T C 2: 29,589,852 (GRCm39) probably null Het
Rgl1 A T 1: 152,415,691 (GRCm39) D409E probably benign Het
Rgsl1 G T 1: 153,697,245 (GRCm39) Y558* probably null Het
Rock1 C T 18: 10,122,612 (GRCm39) R403H probably benign Het
Scn11a T A 9: 119,636,035 (GRCm39) D304V possibly damaging Het
Sdk1 A T 5: 142,032,053 (GRCm39) I1043F probably benign Het
Sgms2 A G 3: 131,135,803 (GRCm39) Y24H probably benign Het
Sppl2a A G 2: 126,755,495 (GRCm39) I372T probably damaging Het
Sptbn1 A G 11: 30,092,187 (GRCm39) M526T probably benign Het
Stxbp5l A T 16: 37,008,991 (GRCm39) S683T possibly damaging Het
Syk A T 13: 52,786,934 (GRCm39) R332S probably benign Het
Syne2 T A 12: 76,009,302 (GRCm39) V2401E probably damaging Het
Tarm1 T C 7: 3,546,006 (GRCm39) Y87C probably damaging Het
Tbc1d22b A G 17: 29,814,864 (GRCm39) K378E possibly damaging Het
Tcte1 A G 17: 45,844,083 (GRCm39) T20A probably benign Het
Tor1aip2 A T 1: 155,940,927 (GRCm39) Y411F possibly damaging Het
Trim43c T A 9: 88,726,977 (GRCm39) M267K probably benign Het
Ubr2 T G 17: 47,245,034 (GRCm39) Y1664S probably damaging Het
Vmn1r41 C A 6: 89,724,163 (GRCm39) Q235K possibly damaging Het
Wdr17 T C 8: 55,126,631 (GRCm39) T401A probably damaging Het
Zfp454 A G 11: 50,764,025 (GRCm39) L469P 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
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
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'- CCTGGGCTCTACTGAAGATACG -3'
(R):5'- GCCCGTGAATGAATGAGATGAC -3'

Sequencing Primer
(F):5'- TGAAGATACGGATGACACTTCTCC -3'
(R):5'- AATGAGATGACCCTCGTTCCAGTG -3'
Posted On 2018-11-06