Incidental Mutation 'R0295:Nosip'
ID 37680
Institutional Source Beutler Lab
Gene Symbol Nosip
Ensembl Gene ENSMUSG00000003421
Gene Name nitric oxide synthase interacting protein
Synonyms CGI-25, 2310061K06Rik
MMRRC Submission 038512-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R0295 (G1)
Quality Score 93
Status Validated
Chromosome 7
Chromosomal Location 44711853-44727634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44726340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 249 (I249N)
Ref Sequence ENSEMBL: ENSMUSP00000103460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003513] [ENSMUST00000107829] [ENSMUST00000210088] [ENSMUST00000210520] [ENSMUST00000211465]
AlphaFold Q9D6T0
Predicted Effect probably damaging
Transcript: ENSMUST00000003513
AA Change: I274N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003513
Gene: ENSMUSG00000003421
AA Change: I274N

DomainStartEndE-ValueType
Pfam:zf-NOSIP 4 78 1.2e-55 PFAM
coiled coil region 83 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107829
AA Change: I249N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103460
Gene: ENSMUSG00000003421
AA Change: I249N

DomainStartEndE-ValueType
SCOP:d1rmd_2 31 79 2e-4 SMART
Blast:RING 46 226 4e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209901
Predicted Effect probably benign
Transcript: ENSMUST00000210088
Predicted Effect probably benign
Transcript: ENSMUST00000210520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210668
Predicted Effect probably benign
Transcript: ENSMUST00000211465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210998
Meta Mutation Damage Score 0.8919 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 100% (70/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik G A 10: 76,290,642 (GRCm39) S127N probably damaging Het
Abcc8 T C 7: 45,767,478 (GRCm39) R953G probably benign Het
Adamtsl3 T A 7: 82,197,213 (GRCm39) probably null Het
Adh4 A G 3: 138,134,837 (GRCm39) D337G probably damaging Het
Apob T A 12: 8,052,181 (GRCm39) Y1207* probably null Het
Birc6 T C 17: 74,920,357 (GRCm39) probably benign Het
Bms1 A G 6: 118,366,298 (GRCm39) I1065T probably benign Het
Cacna1i T A 15: 80,240,412 (GRCm39) L378Q probably damaging Het
Ccdc127 C A 13: 74,504,989 (GRCm39) P179H probably damaging Het
Ccdc18 A T 5: 108,321,655 (GRCm39) K586N probably damaging Het
Cep290 A C 10: 100,373,683 (GRCm39) E1321A probably damaging Het
Cstpp1 A T 2: 91,112,939 (GRCm39) I173N probably damaging Het
Ctc1 A G 11: 68,921,414 (GRCm39) K682E possibly damaging Het
Cux1 A C 5: 136,342,066 (GRCm39) V442G probably benign Het
Dph2 A T 4: 117,748,127 (GRCm39) V150E possibly damaging Het
Etv6 A G 6: 134,243,238 (GRCm39) D331G probably benign Het
Fbxo42 A G 4: 140,927,808 (GRCm39) D696G probably damaging Het
Fbxo8 G A 8: 57,043,109 (GRCm39) D198N probably benign Het
Gria4 T C 9: 4,793,840 (GRCm39) T73A possibly damaging Het
H2aj C G 6: 136,785,602 (GRCm39) R89G probably damaging Het
Ifng G T 10: 118,277,154 (GRCm39) S32I possibly damaging Het
Ildr1 A G 16: 36,529,839 (GRCm39) probably null Het
Knl1 A C 2: 118,919,320 (GRCm39) D1824A probably damaging Het
Lamp3 A T 16: 19,519,858 (GRCm39) Y108* probably null Het
Lcp1 A G 14: 75,436,860 (GRCm39) I69V probably null Het
Lrp6 A T 6: 134,434,656 (GRCm39) V1349E probably benign Het
Lrrcc1 A T 3: 14,630,909 (GRCm39) E1009D probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Med14 G C X: 12,551,987 (GRCm39) R1223G probably damaging Het
Mesd C T 7: 83,547,073 (GRCm39) Q179* probably null Het
Myh7 A G 14: 55,222,278 (GRCm39) probably benign Het
Myo6 T C 9: 80,190,861 (GRCm39) I804T probably damaging Het
Neb T C 2: 52,174,297 (GRCm39) I1521V possibly damaging Het
Nostrin A C 2: 69,009,760 (GRCm39) E296A probably benign Het
Oprk1 T C 1: 5,669,073 (GRCm39) L173S possibly damaging Het
Or2n1d A T 17: 38,646,182 (GRCm39) I45F probably damaging Het
Or4k36 T A 2: 111,146,499 (GRCm39) V225D probably damaging Het
Or51v8 T C 7: 103,319,518 (GRCm39) H240R probably damaging Het
Or5p1 T G 7: 107,916,892 (GRCm39) S264A probably benign Het
Pdzd7 A G 19: 45,025,511 (GRCm39) V328A probably benign Het
Podxl2 A T 6: 88,826,660 (GRCm39) S215R probably benign Het
Prss36 T G 7: 127,535,027 (GRCm39) T418P possibly damaging Het
Ralgps2 T A 1: 156,651,555 (GRCm39) probably benign Het
Rasa2 T C 9: 96,427,863 (GRCm39) probably null Het
Rgs1 A T 1: 144,121,224 (GRCm39) I149N probably damaging Het
Rgs16 A G 1: 153,619,483 (GRCm39) E163G probably damaging Het
Rnf121 A G 7: 101,684,553 (GRCm39) F120S possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slfn8 A T 11: 82,894,169 (GRCm39) Y823* probably null Het
Spdl1 A T 11: 34,704,170 (GRCm39) N554K possibly damaging Het
St6gal1 T A 16: 23,174,953 (GRCm39) probably benign Het
Tet3 G A 6: 83,346,121 (GRCm39) P1304S probably benign Het
Timm29 T C 9: 21,504,372 (GRCm39) probably null Het
Tpcn1 T A 5: 120,677,125 (GRCm39) I687F probably damaging Het
Trim46 A G 3: 89,152,420 (GRCm39) probably benign Het
Ttc23 T A 7: 67,319,600 (GRCm39) probably benign Het
Ttll6 G T 11: 96,045,540 (GRCm39) V586L probably benign Het
Ttn A T 2: 76,588,955 (GRCm39) probably benign Het
Uba3 A T 6: 97,168,544 (GRCm39) H160Q possibly damaging Het
Usp32 A G 11: 84,944,518 (GRCm39) S316P probably damaging Het
Vcan T C 13: 89,860,310 (GRCm39) I352M probably benign Het
Zcwpw1 G T 5: 137,815,734 (GRCm39) L412F probably damaging Het
Zfp292 A T 4: 34,806,281 (GRCm39) N2254K probably damaging Het
Zscan4e A G 7: 11,041,543 (GRCm39) S138P probably damaging 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
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
R2359:Nosip UTSW 7 44,723,450 (GRCm39) missense possibly damaging 0.82
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'- TGACCCGAGACAGTCTGAGCAATG -3'
(R):5'- CAGTGCCATAGAAGAGCCAACAGTG -3'

Sequencing Primer
(F):5'- AGTCTGAGCAATGCCACG -3'
(R):5'- CCATAGAAGAGCCAACAGTGTATAG -3'
Posted On 2013-05-23