Incidental Mutation 'R6677:Nhsl1'
ID 527317
Institutional Source Beutler Lab
Gene Symbol Nhsl1
Ensembl Gene ENSMUSG00000039835
Gene Name NHS like 1
Synonyms A630035H13Rik, 5730409E15Rik, D10Bwg0940e
MMRRC Submission 044796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6677 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 18194733-18409640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18401610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 911 (D911E)
Ref Sequence ENSEMBL: ENSMUSP00000097631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037341] [ENSMUST00000100054] [ENSMUST00000162891] [ENSMUST00000207038]
AlphaFold Q8CAF4
Predicted Effect probably damaging
Transcript: ENSMUST00000037341
AA Change: D915E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: D915E

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: D911E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: D911E

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 noncoding transcript
Transcript: ENSMUST00000159299
SMART Domains Protein: ENSMUSP00000124629
Gene: ENSMUSG00000039835

DomainStartEndE-ValueType
low complexity region 79 90 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162891
AA Change: D911E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: D911E

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 possibly damaging
Transcript: ENSMUST00000207038
AA Change: D945E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.0821 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,261,381 (GRCm39) H713Q possibly damaging Het
Akap9 A G 5: 4,079,869 (GRCm39) T1874A probably benign Het
Atl1 A G 12: 70,000,218 (GRCm39) I289M probably damaging Het
Atp12a A G 14: 56,618,311 (GRCm39) D654G probably damaging Het
Bbox1 C A 2: 110,135,770 (GRCm39) D70Y probably damaging Het
Blzf1 A T 1: 164,130,181 (GRCm39) V50D possibly damaging Het
Ccdc168 G T 1: 44,097,859 (GRCm39) R1080S probably benign Het
Cfap65 C A 1: 74,943,844 (GRCm39) D1556Y probably damaging Het
Chrm2 A T 6: 36,501,027 (GRCm39) N295Y probably damaging Het
Clca3b T A 3: 144,529,145 (GRCm39) E843V probably benign Het
Enpp3 T A 10: 24,653,855 (GRCm39) N701Y possibly damaging Het
Fbxo30 G T 10: 11,166,380 (GRCm39) L367F possibly damaging Het
Gm4841 A T 18: 60,403,652 (GRCm39) F147Y probably damaging Het
Itprid2 A G 2: 79,485,445 (GRCm39) T500A possibly damaging Het
Lama1 G A 17: 68,102,228 (GRCm39) V1951I probably benign Het
Mgat4b A G 11: 50,123,898 (GRCm39) probably null Het
Mpp3 A G 11: 101,899,444 (GRCm39) V359A probably benign Het
Or13a23-ps1 T G 7: 140,118,465 (GRCm39) F12V probably damaging Het
Polr1b T C 2: 128,962,131 (GRCm39) probably benign Het
Qrfprl A T 6: 65,433,229 (GRCm39) I350F probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Saxo2 T C 7: 82,284,484 (GRCm39) R125G probably benign Het
Scn8a A G 15: 100,866,953 (GRCm39) D103G probably damaging Het
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Shroom1 G A 11: 53,354,343 (GRCm39) A88T possibly damaging Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Sult5a1 A G 8: 123,876,017 (GRCm39) F100L probably benign Het
Syne1 T C 10: 4,990,942 (GRCm39) Q579R possibly damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Zic5 C G 14: 122,702,566 (GRCm39) R55P 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
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
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'- AGAGTCACCTCTCCATCCAG -3'
(R):5'- AACAAGGGCTTCTGGTGGTG -3'

Sequencing Primer
(F):5'- GGGTATTCTAGCCAGTCGAATACAC -3'
(R):5'- GCTTCTGGTGGTGGAGGG -3'
Posted On 2018-07-23