Incidental Mutation 'R0763:N4bp2l1'
ID72503
Institutional Source Beutler Lab
Gene Symbol N4bp2l1
Ensembl Gene ENSMUSG00000041132
Gene NameNEDD4 binding protein 2-like 1
Synonyms
MMRRC Submission 038943-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R0763 (G1)
Quality Score175
Status Validated
Chromosome5
Chromosomal Location150571644-150597188 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 150594404 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 11 (R11S)
Ref Sequence ENSEMBL: ENSMUSP00000144439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016279] [ENSMUST00000200840] [ENSMUST00000201319] [ENSMUST00000202279] [ENSMUST00000202291]
Predicted Effect probably benign
Transcript: ENSMUST00000016279
AA Change: R11S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000016279
Gene: ENSMUSG00000041132
AA Change: R11S

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
Pfam:AAA_33 42 176 6.1e-19 PFAM
Pfam:AAA_17 42 198 3.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200840
AA Change: R11S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144439
Gene: ENSMUSG00000041132
AA Change: R11S

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
SCOP:d1ly1a_ 40 60 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200926
Predicted Effect probably benign
Transcript: ENSMUST00000201319
AA Change: R11S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144635
Gene: ENSMUSG00000041132
AA Change: R11S

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
SCOP:d1ly1a_ 40 58 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202279
AA Change: R11S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143792
Gene: ENSMUSG00000041132
AA Change: R11S

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
SCOP:d1l4ua_ 42 58 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202482
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,838,279 F290V probably damaging Het
Adam26b G A 8: 43,520,564 S467L probably damaging Het
Adgrv1 T A 13: 81,499,125 I3099F probably damaging Het
Akap6 A G 12: 53,142,214 D2137G possibly damaging Het
Arhgdig T C 17: 26,200,301 Y48C probably damaging Het
Astn1 A G 1: 158,509,890 I389V possibly damaging Het
Atp8a1 T C 5: 67,659,883 D920G probably benign Het
BC016579 T A 16: 45,629,455 N200I probably damaging Het
Casc3 T C 11: 98,831,318 Y661H probably damaging Het
Cep120 A C 18: 53,721,737 V442G probably benign Het
Cfap65 A G 1: 74,904,682 Y1557H probably damaging Het
Chd2 G T 7: 73,447,274 Q1485K possibly damaging Het
Cntrl T C 2: 35,171,066 F1967L probably benign Het
Csmd1 G A 8: 17,027,284 T119M possibly damaging Het
Dnah9 T C 11: 66,155,530 H64R probably benign Het
Ep400 T C 5: 110,665,837 R2899G probably damaging Het
Fam205a1 A G 4: 42,851,238 V306A probably damaging Het
Foxl2 A C 9: 98,956,033 T125P probably damaging Het
Foxred1 A T 9: 35,207,473 probably null Het
H2-Eb1 T A 17: 34,314,159 probably benign Het
Heatr3 T C 8: 88,158,241 S378P probably damaging Het
Hectd4 T C 5: 121,307,033 probably benign Het
Hps3 T G 3: 20,003,279 R780S probably damaging Het
Ifi44 G A 3: 151,749,498 A30V probably damaging Het
Il12rb1 G A 8: 70,813,290 probably benign Het
Invs G A 4: 48,392,628 G281R possibly damaging Het
Itgax C A 7: 128,147,940 probably benign Het
Jade1 G T 3: 41,613,783 C762F possibly damaging Het
Lama1 C T 17: 67,772,818 P1229S probably damaging Het
Mmp15 C A 8: 95,368,228 D243E probably benign Het
Mug2 A G 6: 122,075,294 T1004A probably benign Het
Myh14 A T 7: 44,665,367 V44E probably damaging Het
Notch4 T A 17: 34,565,332 C36* probably null Het
Nwd1 A G 8: 72,671,044 D637G probably damaging Het
Ogfod1 T C 8: 94,055,636 I238T probably benign Het
Palm2 G A 4: 57,688,441 E95K probably damaging Het
Papln A G 12: 83,791,865 D1256G possibly damaging Het
Ppp1r26 T C 2: 28,450,367 L3P probably damaging Het
Rbm10 C T X: 20,637,664 probably benign Het
Slc17a5 A T 9: 78,553,090 probably benign Het
Slc25a17 A G 15: 81,323,706 probably benign Het
Socs4 T C 14: 47,290,655 F349S probably damaging Het
Tchhl1 A C 3: 93,471,571 E527D probably benign Het
Tm7sf3 A G 6: 146,606,289 L425S possibly damaging Het
Tmem266 G T 9: 55,414,955 V112L probably damaging Het
Tmem30c T A 16: 57,270,176 I223F possibly damaging Het
Tomm70a G A 16: 57,122,172 G104D probably benign Het
Ttc17 G T 2: 94,332,803 A834E probably benign Het
Ttn C T 2: 76,731,190 V20664M probably damaging Het
Zbed5 T C 5: 129,902,179 V323A probably benign Het
Other mutations in N4bp2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01737:N4bp2l1 APN 5 150594316 missense possibly damaging 0.46
IGL02048:N4bp2l1 APN 5 150576638 critical splice donor site probably null
R0625:N4bp2l1 UTSW 5 150576745 nonsense probably null
R2372:N4bp2l1 UTSW 5 150572781 missense probably damaging 1.00
R5548:N4bp2l1 UTSW 5 150572955 nonsense probably null
R7311:N4bp2l1 UTSW 5 150572924 missense probably damaging 1.00
R7414:N4bp2l1 UTSW 5 150576293 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGAAGGTTGCCGGGGAGTT -3'
(R):5'- AGGGAAACCTCCCACTGTGTCC -3'

Sequencing Primer
(F):5'- CACTGCCGAGGTCCGTC -3'
(R):5'- TCACAGGTAGAGACGCCC -3'
Posted On2013-09-30