Incidental Mutation 'R5707:Nhsl1'
ID 452029
Institutional Source Beutler Lab
Gene Symbol Nhsl1
Ensembl Gene ENSMUSG00000039835
Gene Name NHS like 1
Synonyms A630035H13Rik, 5730409E15Rik, D10Bwg0940e
MMRRC Submission 043332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5707 (G1)
Quality Score 183
Status Validated
Chromosome 10
Chromosomal Location 18194733-18409640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18402251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1159 (T1159M)
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: T1129M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: T1129M

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: T1125M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: T1125M

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 damaging
Transcript: ENSMUST00000207038
AA Change: T1159M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,620 (GRCm39) L4210P probably damaging Het
Adcy6 T C 15: 98,496,622 (GRCm39) T518A probably damaging Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aqp11 A G 7: 97,386,635 (GRCm39) V187A possibly damaging Het
Arhgef15 A G 11: 68,845,541 (GRCm39) S104P probably damaging Het
Birc6 T A 17: 75,003,399 (GRCm39) N4762K probably damaging Het
Cacna1e T C 1: 154,509,463 (GRCm39) D264G probably damaging Het
Cela3b G T 4: 137,152,167 (GRCm39) Q97K probably damaging Het
Cenpc1 T A 5: 86,183,293 (GRCm39) R499W possibly damaging Het
Chct1 A G 11: 85,064,138 (GRCm39) N93S probably benign Het
Cnr1 C A 4: 33,944,330 (GRCm39) C239* probably null Het
Col6a2 T C 10: 76,446,865 (GRCm39) K348E possibly damaging Het
Ctnnb1 C A 9: 120,784,234 (GRCm39) L368I probably benign Het
Diras1 T C 10: 80,857,915 (GRCm39) E112G probably benign Het
Dop1a T A 9: 86,385,050 (GRCm39) M332K possibly damaging Het
Dpy19l1 T C 9: 24,325,563 (GRCm39) *747W probably null Het
Dydc2 T G 14: 40,783,911 (GRCm39) T71P probably damaging Het
Elapor2 A G 5: 9,491,698 (GRCm39) Y686C probably damaging Het
Ggt1 T A 10: 75,421,072 (GRCm39) I429N probably benign Het
Gm5114 G C 7: 39,060,700 (GRCm39) L50V probably benign Het
Gm5121 T G 9: 57,241,766 (GRCm39) noncoding transcript Het
Kidins220 A G 12: 25,063,390 (GRCm39) D933G probably damaging Het
Kirrel3 A G 9: 34,924,572 (GRCm39) K286R probably damaging Het
Klf5 T C 14: 99,538,944 (GRCm39) I39T probably benign Het
Krt14 C T 11: 100,095,584 (GRCm39) V274I possibly damaging Het
Meiob A G 17: 25,054,025 (GRCm39) D364G probably benign Het
Mroh7 T A 4: 106,539,082 (GRCm39) E1190D possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Odad4 G A 11: 100,444,887 (GRCm39) A348T probably damaging Het
Or1af1 C A 2: 37,109,901 (GRCm39) N133K probably benign Het
Or1e23 G T 11: 73,407,451 (GRCm39) D191E probably damaging Het
Or2b2b A G 13: 21,858,769 (GRCm39) L115P probably damaging Het
Pcare G T 17: 72,058,567 (GRCm39) A370E possibly damaging Het
Pdlim5 T A 3: 142,010,060 (GRCm39) H294L probably damaging Het
Pdzd8 A T 19: 59,288,057 (GRCm39) D1114E probably benign Het
Phf20 T G 2: 156,138,691 (GRCm39) probably null Het
Plec C T 15: 76,083,871 (GRCm39) probably benign Het
Ppp1r18 T C 17: 36,178,128 (GRCm39) M1T probably null Het
Ppp4r3a G A 12: 101,024,770 (GRCm39) T243I probably damaging Het
Prss41 C T 17: 24,061,390 (GRCm39) V134I probably benign Het
Pter T C 2: 12,982,991 (GRCm39) probably benign Het
Rasgef1b T G 5: 99,382,461 (GRCm39) K176N possibly damaging Het
Reps1 T A 10: 17,931,758 (GRCm39) D16E probably benign Het
Slc4a5 T A 6: 83,238,397 (GRCm39) D73E probably benign Het
Smgc A T 15: 91,744,861 (GRCm39) T146S possibly damaging Het
Sptbn1 A T 11: 30,093,174 (GRCm39) W396R possibly damaging Het
Stkld1 A G 2: 26,833,999 (GRCm39) E162G probably damaging Het
Tanc1 T C 2: 59,588,874 (GRCm39) F106L probably benign Het
Tarbp1 A G 8: 127,193,883 (GRCm39) Y340H probably damaging Het
Tenm2 T C 11: 35,938,009 (GRCm39) I1556V possibly damaging Het
Tmem64 T C 4: 15,266,288 (GRCm39) C113R probably damaging Het
Try4 T C 6: 41,281,977 (GRCm39) F188L possibly damaging Het
Ucn3 A G 13: 3,991,556 (GRCm39) V32A probably benign Het
Vmn2r83 T A 10: 79,327,183 (GRCm39) M597K possibly damaging Het
Wdr90 A G 17: 26,076,166 (GRCm39) V491A probably benign Het
Xylt1 T A 7: 117,255,717 (GRCm39) M763K possibly damaging Het
Zfp507 G T 7: 35,493,588 (GRCm39) A485E 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
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
Predicted Primers PCR Primer
(F):5'- GATCACCACAGAAGCTTTGCAG -3'
(R):5'- TACCACCAGGAACAGTTTGGG -3'

Sequencing Primer
(F):5'- CCACAGAAGCTTTGCAGATGGTG -3'
(R):5'- ACCAGGAACAGTTTGGGCTTCTTAG -3'
Posted On 2017-01-03