Incidental Mutation 'R0841:Nip7'
ID77171
Institutional Source Beutler Lab
Gene Symbol Nip7
Ensembl Gene ENSMUSG00000031917
Gene NameNIP7, nucleolar pre-rRNA processing protein
Synonyms6330509M23Rik, 1110017C15Rik
MMRRC Submission 039020-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0841 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location107056877-107060931 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107057375 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 82 (H82Q)
Ref Sequence ENSEMBL: ENSMUSP00000034392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034391] [ENSMUST00000034392] [ENSMUST00000034393] [ENSMUST00000095517] [ENSMUST00000170962]
Predicted Effect probably benign
Transcript: ENSMUST00000034391
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034392
AA Change: H82Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917
AA Change: H82Q

DomainStartEndE-ValueType
PUA 95 170 4.36e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034393
SMART Domains Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EMP24_GP25L 43 228 1.87e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095517
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122903
Predicted Effect probably benign
Transcript: ENSMUST00000134772
Predicted Effect probably benign
Transcript: ENSMUST00000170962
AA Change: H82Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917
AA Change: H82Q

DomainStartEndE-ValueType
PDB:1T5Y|A 1 133 7e-87 PDB
Blast:PUA 95 123 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212281
Meta Mutation Damage Score 0.122 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 94% (45/48)
MGI Phenotype PHENOTYPE: Mice homozygous for en ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,942,749 M205L probably benign Het
Aass A T 6: 23,075,811 C776S probably benign Het
Abi3bp T C 16: 56,668,276 S1257P possibly damaging Het
Arhgap9 T A 10: 127,329,639 M639K probably damaging Het
Armc4 G T 18: 7,268,436 P361Q probably damaging Het
Ctsj C T 13: 61,002,543 S214N probably damaging Het
Dnali1 T C 4: 125,065,547 S18G possibly damaging Het
Eif4g3 C T 4: 138,165,818 T959M probably damaging Het
Eml3 G A 19: 8,937,685 M635I probably benign Het
Eml6 A G 11: 29,777,430 F1231L probably benign Het
Fat4 A C 3: 38,995,998 K4003T probably damaging Het
Fcho1 C T 8: 71,712,560 A418T probably benign Het
Fgfr2 G A 7: 130,261,905 P4S probably benign Het
Fgfr2 T C 7: 130,772,007 probably benign Het
Glp1r T C 17: 30,919,432 V160A probably benign Het
Gm9726 C T 12: 93,928,280 noncoding transcript Het
Gm9956 C A 10: 56,745,328 L29M unknown Het
Gm9956 T A 10: 56,745,329 L29Q unknown Het
Hddc3 T A 7: 80,345,653 S139T probably benign Het
Hmcn1 A T 1: 150,679,607 probably null Het
Inpp5k T C 11: 75,633,459 probably benign Het
Kcnq1 A G 7: 143,107,452 K32E probably benign Het
Krtdap A T 7: 30,789,550 probably benign Het
Ldb2 A G 5: 44,532,674 L201P probably damaging Het
Mdn1 T C 4: 32,752,032 V4590A probably benign Het
Olfr685 A T 7: 105,180,854 V168E probably damaging Het
Otud6b T A 4: 14,812,532 T272S probably benign Het
Plxna1 A G 6: 89,332,204 V1131A probably damaging Het
Prl7a1 T A 13: 27,642,410 probably benign Het
Sipa1 C A 19: 5,654,807 A587S probably benign Het
Slc17a6 A T 7: 51,625,315 I41F probably benign Het
Slc43a2 T A 11: 75,566,989 Y363* probably null Het
Smg1 A T 7: 118,143,301 L3230Q possibly damaging Het
Snapc1 C T 12: 73,975,006 probably benign Het
Syne2 T C 12: 76,074,435 probably benign Het
Tap2 C A 17: 34,215,940 D652E possibly damaging Het
Trp53rkb T C 2: 166,795,510 C129R probably benign Het
Ugt2a2 T C 5: 87,474,789 T317A probably benign Het
Ugt3a1 G A 15: 9,306,128 S121N probably benign Het
Unc80 T C 1: 66,472,088 V85A probably damaging Het
Vmn2r71 A G 7: 85,618,541 T68A possibly damaging Het
Zfp7 G A 15: 76,891,504 C582Y probably damaging Het
Other mutations in Nip7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Nip7 APN 8 107057170 missense possibly damaging 0.86
IGL01827:Nip7 APN 8 107057091 critical splice acceptor site probably null
IGL02543:Nip7 APN 8 107058193 intron probably benign
R0471:Nip7 UTSW 8 107057317 missense probably damaging 1.00
R1750:Nip7 UTSW 8 107057386 missense probably damaging 1.00
R1759:Nip7 UTSW 8 107058135 missense probably benign 0.00
R5121:Nip7 UTSW 8 107056957 missense possibly damaging 0.88
R6306:Nip7 UTSW 8 107058423 missense probably damaging 1.00
R7338:Nip7 UTSW 8 107057284 missense possibly damaging 0.80
R7459:Nip7 UTSW 8 107057336 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCAGCATCGGAGAGAACCTTCAAC -3'
(R):5'- TTAGGCTGACGCTGTCCAGAAAC -3'

Sequencing Primer
(F):5'- GGAGAGAACCTTCAACTCCTAGTG -3'
(R):5'- ACTCGTTGGAAAGAATCTGTGC -3'
Posted On2013-10-16