Incidental Mutation 'IGL00230:Nhsl1'
ID 2259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhsl1
Ensembl Gene ENSMUSG00000039835
Gene Name NHS like 1
Synonyms A630035H13Rik, 5730409E15Rik, D10Bwg0940e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00230
Quality Score
Status
Chromosome 10
Chromosomal Location 18194733-18409640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18403357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1329 (D1329E)
Ref Sequence ENSEMBL: ENSMUSP00000097631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037341] [ENSMUST00000100054] [ENSMUST00000162891] [ENSMUST00000207038]
AlphaFold Q8CAF4
Predicted Effect probably benign
Transcript: ENSMUST00000037341
AA Change: D1333E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: D1333E

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: D1329E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: D1329E

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 probably benign
Transcript: ENSMUST00000162891
SMART Domains Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835

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 benign
Transcript: ENSMUST00000207038
AA Change: D1363E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0575 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,553,160 (GRCm39) A215V probably damaging Het
Cfap91 A G 16: 38,156,704 (GRCm39) probably null Het
Cyp2j6 C T 4: 96,424,283 (GRCm39) R158H possibly damaging Het
Dnaaf2 T C 12: 69,243,540 (GRCm39) D507G probably benign Het
Fam13b T C 18: 34,620,149 (GRCm39) E245G possibly damaging Het
Gal3st1 A T 11: 3,949,070 (GRCm39) probably benign Het
Galnt5 A T 2: 57,888,985 (GRCm39) Q195L probably benign Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gigyf1 A G 5: 137,521,007 (GRCm39) probably benign Het
Gm4353 G T 7: 115,682,789 (GRCm39) T264K probably damaging Het
Gsk3b A T 16: 38,049,069 (GRCm39) I389F probably benign Het
H2bc14 G T 13: 21,906,545 (GRCm39) R93L possibly damaging Het
Htt A G 5: 34,956,752 (GRCm39) T194A probably benign Het
Ighg3 T C 12: 113,323,457 (GRCm39) Y273C unknown Het
Kdm5b T A 1: 134,548,693 (GRCm39) V1066D probably damaging Het
Kif1a G T 1: 92,982,656 (GRCm39) A707E probably damaging Het
Mars1 A G 10: 127,133,875 (GRCm39) M674T probably benign Het
Mas1 T C 17: 13,060,877 (GRCm39) D182G probably benign Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Ninl T C 2: 150,808,161 (GRCm39) E289G probably damaging Het
Pmel G T 10: 128,551,958 (GRCm39) G264V possibly damaging Het
Ruvbl1 T C 6: 88,461,385 (GRCm39) probably benign Het
Scn8a T A 15: 100,853,413 (GRCm39) probably benign Het
Septin9 T C 11: 117,245,630 (GRCm39) probably benign Het
Sgpp1 G T 12: 75,762,968 (GRCm39) Y404* probably null Het
Sgsm1 T C 5: 113,392,930 (GRCm39) I788V probably benign Het
Slc13a4 A T 6: 35,266,759 (GRCm39) M112K probably benign Het
Slc22a29 T C 19: 8,195,177 (GRCm39) M153V probably benign Het
Slc9c1 T G 16: 45,393,752 (GRCm39) V565G possibly damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tec C T 5: 72,926,111 (GRCm39) A314T probably damaging Het
Tg A G 15: 66,699,139 (GRCm39) I803V probably benign Het
Trav9-1 A T 14: 53,725,850 (GRCm39) I55F probably benign Het
Ttll12 C A 15: 83,462,857 (GRCm39) E536D probably benign Het
Ubqln1 C A 13: 58,325,806 (GRCm39) E152* probably null Het
Wwtr1 G A 3: 57,370,912 (GRCm39) T338I probably benign Het
Zdhhc16 T C 19: 41,928,099 (GRCm39) F206S probably benign Het
Other mutations in Nhsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-12-09