Incidental Mutation 'R2359:Nosip'
ID 247068
Institutional Source Beutler Lab
Gene Symbol Nosip
Ensembl Gene ENSMUSG00000003421
Gene Name nitric oxide synthase interacting protein
Synonyms CGI-25, 2310061K06Rik
MMRRC Submission 040341-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R2359 (G1)
Quality Score 183
Status Validated
Chromosome 7
Chromosomal Location 44711853-44727634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44723450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 39 (A39T)
Ref Sequence ENSEMBL: ENSMUSP00000147796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003513] [ENSMUST00000107829] [ENSMUST00000210088] [ENSMUST00000210520] [ENSMUST00000211465]
AlphaFold Q9D6T0
Predicted Effect probably benign
Transcript: ENSMUST00000003513
AA Change: A39T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003513
Gene: ENSMUSG00000003421
AA Change: A39T

DomainStartEndE-ValueType
Pfam:zf-NOSIP 4 78 1.2e-55 PFAM
coiled coil region 83 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107829
AA Change: A39T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103460
Gene: ENSMUSG00000003421
AA Change: A39T

DomainStartEndE-ValueType
SCOP:d1rmd_2 31 79 2e-4 SMART
Blast:RING 46 226 4e-10 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000209243
AA Change: A17T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209901
Predicted Effect possibly damaging
Transcript: ENSMUST00000210088
AA Change: A39T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210520
AA Change: A39T

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211465
AA Change: A39T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210998
Meta Mutation Damage Score 0.2256 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 95% (41/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A G 8: 41,133,984 (GRCm39) E484G possibly damaging Het
Akr1c20 C T 13: 4,573,276 (GRCm39) G13D probably damaging Het
Alkbh3 T C 2: 93,838,458 (GRCm39) T38A probably benign Het
Anxa9 A C 3: 95,210,062 (GRCm39) L99R probably damaging Het
Arfgef2 A T 2: 166,702,539 (GRCm39) Y826F probably damaging Het
Arid2 G T 15: 96,259,759 (GRCm39) L306F probably damaging Het
Ccdc141 C T 2: 77,000,746 (GRCm39) V29M probably damaging Het
Cd55b A G 1: 130,345,858 (GRCm39) S187P probably damaging Het
Cep63 A C 9: 102,471,763 (GRCm39) L526V possibly damaging Het
Chtf8 G T 8: 107,612,048 (GRCm39) probably null Het
Clca4b T A 3: 144,631,003 (GRCm39) S286C probably damaging Het
Cpsf1 A G 15: 76,481,873 (GRCm39) V1080A probably benign Het
Csf2rb2 C T 15: 78,176,976 (GRCm39) V165I probably benign Het
Cyp2c40 A T 19: 39,766,398 (GRCm39) V399E probably damaging Het
Dnmt3a T C 12: 3,951,599 (GRCm39) S659P probably damaging Het
Efcab3 T C 11: 104,630,106 (GRCm39) S967P possibly damaging Het
Efr3b G A 12: 4,030,136 (GRCm39) probably benign Het
Epha8 A G 4: 136,673,343 (GRCm39) I147T probably damaging Het
Fbxo48 G A 11: 16,903,602 (GRCm39) W76* probably null Het
Ggt6 A T 11: 72,328,377 (GRCm39) L254F possibly damaging Het
Gm4204 T A 1: 135,159,927 (GRCm39) noncoding transcript Het
Golph3l A G 3: 95,499,275 (GRCm39) probably null Het
Gtf2h3 A G 5: 124,728,939 (GRCm39) K166R probably damaging Het
Hsp90aa1 A G 12: 110,661,003 (GRCm39) probably null Het
Hyi A G 4: 118,217,538 (GRCm39) R79G probably benign Het
Igbp1b G A 6: 138,634,713 (GRCm39) P244S probably damaging Het
Ipo8 G A 6: 148,717,975 (GRCm39) probably benign Het
Larp4b C A 13: 9,208,199 (GRCm39) T391K probably damaging Het
Lrba T C 3: 86,256,057 (GRCm39) V1133A probably benign Het
Med13 C T 11: 86,181,861 (GRCm39) probably benign Het
Ncapd2 A G 6: 125,156,379 (GRCm39) probably benign Het
Neurl1b T C 17: 26,660,569 (GRCm39) F299L probably benign Het
Nsd1 A G 13: 55,361,524 (GRCm39) D164G possibly damaging Het
Ntn1 G A 11: 68,276,438 (GRCm39) T170M probably damaging Het
Polrmt A T 10: 79,572,396 (GRCm39) L1079Q probably damaging Het
Prxl2c A T 13: 64,460,465 (GRCm39) C12S probably benign Het
Rab30 A G 7: 92,485,005 (GRCm39) D129G possibly damaging Het
Rwdd2b C T 16: 87,233,809 (GRCm39) S97N probably benign Het
Slitrk3 T G 3: 72,956,678 (GRCm39) D698A possibly damaging Het
Smarcd2 T C 11: 106,157,990 (GRCm39) M93V probably benign Het
Tmprss4 A G 9: 45,097,130 (GRCm39) V45A probably benign Het
Vmn1r22 A T 6: 57,877,974 (GRCm39) M1K probably null Het
Vps13a A G 19: 16,630,043 (GRCm39) probably benign Het
Other mutations in Nosip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Nosip APN 7 44,726,283 (GRCm39) missense probably damaging 1.00
IGL02245:Nosip APN 7 44,723,466 (GRCm39) missense probably benign 0.13
IGL02385:Nosip APN 7 44,726,156 (GRCm39) missense possibly damaging 0.90
IGL02676:Nosip APN 7 44,726,752 (GRCm39) missense probably damaging 1.00
R0295:Nosip UTSW 7 44,726,340 (GRCm39) missense probably damaging 1.00
R1599:Nosip UTSW 7 44,723,430 (GRCm39) missense probably benign 0.02
R1812:Nosip UTSW 7 44,725,998 (GRCm39) missense probably damaging 0.99
R1843:Nosip UTSW 7 44,726,733 (GRCm39) splice site probably null
R2018:Nosip UTSW 7 44,726,033 (GRCm39) missense probably benign
R4857:Nosip UTSW 7 44,726,102 (GRCm39) missense probably benign 0.06
R6072:Nosip UTSW 7 44,726,072 (GRCm39) missense possibly damaging 0.67
R6370:Nosip UTSW 7 44,726,164 (GRCm39) critical splice donor site probably null
R7973:Nosip UTSW 7 44,726,784 (GRCm39) missense possibly damaging 0.93
X0026:Nosip UTSW 7 44,725,821 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGTGGCCATAGACAGTGTG -3'
(R):5'- TAGACTAGCAGTGCACTCGCTC -3'

Sequencing Primer
(F):5'- ATAGACAGTGTGGCCCATCC -3'
(R):5'- TCGCCCAACTGCACCTG -3'
Posted On 2014-10-30