Incidental Mutation 'R8354:Neurl4'
ID 660618
Institutional Source Beutler Lab
Gene Symbol Neurl4
Ensembl Gene ENSMUSG00000047284
Gene Name neuralized E3 ubiquitin protein ligase 4
Synonyms 0610025P10Rik
MMRRC Submission 067806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8354 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69792545-69804648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69800062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1050 (D1050G)
Ref Sequence ENSEMBL: ENSMUSP00000135277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000072581] [ENSMUST00000108617] [ENSMUST00000116358] [ENSMUST00000129475] [ENSMUST00000177138] [ENSMUST00000133203] [ENSMUST00000177476]
AlphaFold Q5NCX5
Predicted Effect probably benign
Transcript: ENSMUST00000057884
SMART Domains Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170

DomainStartEndE-ValueType
Pfam:G_path_suppress 5 294 6.1e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000061837
AA Change: D1074G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: D1074G

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 1.02e-28 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 317 442 7.22e-52 SMART
low complexity region 492 503 N/A INTRINSIC
NEUZ 520 644 6.15e-46 SMART
low complexity region 686 700 N/A INTRINSIC
NEUZ 716 840 7.81e-39 SMART
NEUZ 913 1043 2.27e-17 SMART
low complexity region 1108 1117 N/A INTRINSIC
NEUZ 1130 1250 4.93e-6 SMART
low complexity region 1453 1464 N/A INTRINSIC
low complexity region 1474 1483 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072581
SMART Domains Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108617
AA Change: D1052G

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: D1052G

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 3.5e-31 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 295 420 2.5e-54 SMART
low complexity region 470 481 N/A INTRINSIC
NEUZ 498 622 2e-48 SMART
low complexity region 664 678 N/A INTRINSIC
NEUZ 694 818 2.6e-41 SMART
NEUZ 891 1021 7.6e-20 SMART
low complexity region 1086 1095 N/A INTRINSIC
NEUZ 1108 1228 1.7e-8 SMART
low complexity region 1431 1442 N/A INTRINSIC
low complexity region 1452 1461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116358
SMART Domains Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129475
SMART Domains Protein: ENSMUSP00000135733
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
NEUZ 1 119 4.22e-44 SMART
low complexity region 169 180 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
internal_repeat_1 206 246 1.46e-10 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000132183
SMART Domains Protein: ENSMUSP00000118868
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 161 172 N/A INTRINSIC
low complexity region 182 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177138
AA Change: D1050G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: D1050G

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 1.02e-28 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 295 420 7.22e-52 SMART
low complexity region 470 481 N/A INTRINSIC
NEUZ 498 622 6.15e-46 SMART
low complexity region 664 678 N/A INTRINSIC
NEUZ 694 818 7.81e-39 SMART
NEUZ 889 1019 2.27e-17 SMART
low complexity region 1084 1093 N/A INTRINSIC
NEUZ 1106 1226 4.93e-6 SMART
low complexity region 1429 1440 N/A INTRINSIC
low complexity region 1450 1459 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000133203
AA Change: D817G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: D817G

DomainStartEndE-ValueType
NEUZ 60 185 7.22e-52 SMART
low complexity region 235 246 N/A INTRINSIC
NEUZ 263 387 6.15e-46 SMART
low complexity region 429 443 N/A INTRINSIC
NEUZ 459 583 7.81e-39 SMART
NEUZ 656 786 2.27e-17 SMART
low complexity region 851 860 N/A INTRINSIC
Pfam:Neuralized 875 942 6.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177476
AA Change: D1072G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: D1072G

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 1.02e-28 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 317 442 7.22e-52 SMART
low complexity region 492 503 N/A INTRINSIC
NEUZ 520 644 6.15e-46 SMART
low complexity region 686 700 N/A INTRINSIC
NEUZ 716 840 7.81e-39 SMART
NEUZ 911 1041 2.27e-17 SMART
low complexity region 1106 1115 N/A INTRINSIC
NEUZ 1128 1248 4.93e-6 SMART
low complexity region 1451 1462 N/A INTRINSIC
low complexity region 1472 1481 N/A INTRINSIC
Meta Mutation Damage Score 0.9357 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,676,297 (GRCm39) S353R probably damaging Het
Ap1ar T C 3: 127,606,428 (GRCm39) probably null Het
Asxl1 C A 2: 153,235,345 (GRCm39) N213K probably benign Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Cacna2d2 G A 9: 107,401,334 (GRCm39) E706K possibly damaging Het
Cfap46 C T 7: 139,233,414 (GRCm39) V296I probably benign Het
Cldn5 A G 16: 18,596,043 (GRCm39) T100A probably benign Het
Ctnna1 C A 18: 35,385,776 (GRCm39) N802K possibly damaging Het
Dennd2b G A 7: 109,124,755 (GRCm39) R675* probably null Het
Dip2c A G 13: 9,671,918 (GRCm39) T968A probably benign Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A T 17: 30,862,234 (GRCm39) D203V probably benign Het
Dnajc13 A G 9: 104,094,927 (GRCm39) M585T probably damaging Het
Donson G T 16: 91,480,685 (GRCm39) T262K possibly damaging Het
E2f3 T A 13: 30,169,787 (GRCm39) probably benign Het
Fam110c A G 12: 31,125,178 (GRCm39) E380G possibly damaging Het
Gbp9 T G 5: 105,242,027 (GRCm39) T177P probably damaging Het
Gins3 C T 8: 96,364,646 (GRCm39) A132V probably benign Het
Glra3 T A 8: 56,578,345 (GRCm39) Y467* probably null Het
Gm7138 A G 10: 77,612,444 (GRCm39) probably benign Het
Golim4 T C 3: 75,802,308 (GRCm39) E328G probably damaging Het
Habp2 T A 19: 56,301,388 (GRCm39) C270* probably null Het
Hecw2 A G 1: 53,964,467 (GRCm39) probably null Het
Hmcn1 A T 1: 150,634,142 (GRCm39) Y815N possibly damaging Het
Igfn1 A T 1: 135,887,619 (GRCm39) C2482S possibly damaging Het
Igkv4-71 A G 6: 69,220,260 (GRCm39) V57A probably damaging Het
Itpkb G A 1: 180,160,908 (GRCm39) E345K possibly damaging Het
Itpr3 G A 17: 27,334,893 (GRCm39) V2136M possibly damaging Het
Kcnh3 A G 15: 99,127,211 (GRCm39) T336A probably damaging Het
Kdm4d T C 9: 14,375,235 (GRCm39) T208A possibly damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Krt10 A G 11: 99,280,086 (GRCm39) probably benign Het
Lgals3bp T A 11: 118,289,367 (GRCm39) N28I probably damaging Het
Matn2 T C 15: 34,378,843 (GRCm39) L293P probably damaging Het
Mical3 T C 6: 120,950,381 (GRCm39) E1010G probably damaging Het
Mpp4 C A 1: 59,169,224 (GRCm39) R380L probably damaging Het
Msh5 A G 17: 35,250,742 (GRCm39) F469L possibly damaging Het
Ncam2 A G 16: 81,309,847 (GRCm39) T446A probably benign Het
Olfml2b T C 1: 170,509,793 (GRCm39) Y714H possibly damaging Het
Or5d43 T C 2: 88,105,036 (GRCm39) D119G probably damaging Het
Or8c17 T C 9: 38,180,513 (GRCm39) S235P probably benign Het
Pcnx2 T C 8: 126,488,357 (GRCm39) E1729G probably damaging Het
Peg10 GCACATCAGGATCC GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC 6: 4,756,452 (GRCm39) probably benign Het
Pex1 T A 5: 3,681,707 (GRCm39) L1051Q probably damaging Het
Prkag2 T A 5: 25,074,137 (GRCm39) R283* probably null Het
Prrc1 T A 18: 57,504,503 (GRCm39) M238K probably damaging Het
Ptprj T C 2: 90,300,061 (GRCm39) T247A probably benign Het
Ptprz1 A G 6: 22,999,614 (GRCm39) Y568C probably damaging Het
Rab36 G A 10: 74,884,291 (GRCm39) A114T probably damaging Het
Rfx7 T C 9: 72,526,731 (GRCm39) V1307A probably benign Het
Scaf1 A C 7: 44,657,251 (GRCm39) probably benign Het
Sema4g A T 19: 44,986,866 (GRCm39) T440S probably benign Het
Setbp1 A T 18: 78,900,598 (GRCm39) V1023E probably damaging Het
Slc46a2 T C 4: 59,913,931 (GRCm39) I331V possibly damaging Het
Slc4a7 C T 14: 14,786,313 (GRCm38) R1000C probably damaging Het
Sorcs2 T C 5: 36,222,753 (GRCm39) H162R probably benign Het
Spata31f1e T A 4: 42,793,223 (GRCm39) H303L probably benign Het
Strip2 G A 6: 29,920,531 (GRCm39) probably null Het
Stx2 T A 5: 129,071,932 (GRCm39) I42L probably benign Het
Tas2r124 A T 6: 132,732,410 (GRCm39) T240S probably benign Het
Tgfbrap1 A T 1: 43,115,070 (GRCm39) V10D probably damaging Het
Tmem41a T A 16: 21,766,181 (GRCm39) Y19F probably benign Het
Tmprss5 A G 9: 49,018,439 (GRCm39) T74A possibly damaging Het
Trim16 G T 11: 62,727,587 (GRCm39) R216L probably benign Het
Trmt10c T C 16: 55,854,870 (GRCm39) K255R probably benign Het
Trpm2 A T 10: 77,769,483 (GRCm39) V747E probably damaging Het
Ube2v2 T C 16: 15,399,005 (GRCm39) D28G possibly damaging Het
Uty G A Y: 1,157,928 (GRCm39) T705I possibly damaging Het
Vmn2r80 A T 10: 78,984,710 (GRCm39) I21F probably benign Het
Wdr11 T C 7: 129,204,723 (GRCm39) L176S probably damaging Het
Zfp992 A G 4: 146,551,319 (GRCm39) T347A probably benign Het
Other mutations in Neurl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Neurl4 APN 11 69,795,413 (GRCm39) missense probably damaging 1.00
IGL00516:Neurl4 APN 11 69,801,219 (GRCm39) missense probably damaging 0.98
IGL01409:Neurl4 APN 11 69,797,925 (GRCm39) missense probably damaging 1.00
IGL01951:Neurl4 APN 11 69,800,449 (GRCm39) missense probably damaging 1.00
IGL02056:Neurl4 APN 11 69,796,616 (GRCm39) missense probably damaging 1.00
IGL02206:Neurl4 APN 11 69,801,166 (GRCm39) missense probably damaging 1.00
IGL02557:Neurl4 APN 11 69,797,161 (GRCm39) missense probably damaging 1.00
IGL02878:Neurl4 APN 11 69,797,657 (GRCm39) missense probably damaging 1.00
P0022:Neurl4 UTSW 11 69,799,891 (GRCm39) missense possibly damaging 0.86
PIT4377001:Neurl4 UTSW 11 69,801,232 (GRCm39) missense probably benign 0.41
R0388:Neurl4 UTSW 11 69,802,559 (GRCm39) splice site probably benign
R0421:Neurl4 UTSW 11 69,799,360 (GRCm39) missense probably damaging 1.00
R0449:Neurl4 UTSW 11 69,796,393 (GRCm39) missense probably damaging 0.99
R1174:Neurl4 UTSW 11 69,794,547 (GRCm39) critical splice donor site probably null
R1345:Neurl4 UTSW 11 69,794,702 (GRCm39) missense probably benign 0.21
R1536:Neurl4 UTSW 11 69,794,252 (GRCm39) nonsense probably null
R1642:Neurl4 UTSW 11 69,794,485 (GRCm39) missense probably benign 0.03
R1857:Neurl4 UTSW 11 69,796,361 (GRCm39) missense probably damaging 1.00
R1935:Neurl4 UTSW 11 69,797,959 (GRCm39) missense probably damaging 1.00
R1936:Neurl4 UTSW 11 69,797,959 (GRCm39) missense probably damaging 1.00
R1967:Neurl4 UTSW 11 69,794,036 (GRCm39) missense possibly damaging 0.90
R1973:Neurl4 UTSW 11 69,800,118 (GRCm39) missense probably benign
R2046:Neurl4 UTSW 11 69,799,523 (GRCm39) missense probably damaging 1.00
R2165:Neurl4 UTSW 11 69,794,047 (GRCm39) missense probably benign
R2393:Neurl4 UTSW 11 69,797,900 (GRCm39) missense probably damaging 1.00
R3810:Neurl4 UTSW 11 69,794,859 (GRCm39) missense probably damaging 1.00
R4299:Neurl4 UTSW 11 69,799,887 (GRCm39) missense probably damaging 1.00
R4749:Neurl4 UTSW 11 69,801,894 (GRCm39) missense probably benign 0.00
R4898:Neurl4 UTSW 11 69,793,997 (GRCm39) missense probably damaging 0.99
R4968:Neurl4 UTSW 11 69,798,134 (GRCm39) missense probably damaging 1.00
R4969:Neurl4 UTSW 11 69,801,913 (GRCm39) missense probably damaging 1.00
R5503:Neurl4 UTSW 11 69,797,194 (GRCm39) missense probably damaging 1.00
R6655:Neurl4 UTSW 11 69,801,742 (GRCm39) critical splice donor site probably null
R6791:Neurl4 UTSW 11 69,799,336 (GRCm39) missense probably damaging 1.00
R7029:Neurl4 UTSW 11 69,801,562 (GRCm39) missense probably damaging 0.99
R7216:Neurl4 UTSW 11 69,801,088 (GRCm39) missense probably damaging 1.00
R7361:Neurl4 UTSW 11 69,802,905 (GRCm39) missense probably benign 0.01
R7367:Neurl4 UTSW 11 69,799,408 (GRCm39) missense probably damaging 1.00
R7804:Neurl4 UTSW 11 69,796,700 (GRCm39) missense probably benign 0.00
R7871:Neurl4 UTSW 11 69,794,012 (GRCm39) missense probably benign
R8092:Neurl4 UTSW 11 69,801,891 (GRCm39) missense probably benign
R8121:Neurl4 UTSW 11 69,799,056 (GRCm39) splice site probably null
R8131:Neurl4 UTSW 11 69,800,067 (GRCm39) missense probably benign 0.12
R8289:Neurl4 UTSW 11 69,800,206 (GRCm39) critical splice donor site probably null
R8494:Neurl4 UTSW 11 69,801,871 (GRCm39) missense probably benign 0.02
R8529:Neurl4 UTSW 11 69,799,613 (GRCm39) missense probably damaging 1.00
R8850:Neurl4 UTSW 11 69,794,788 (GRCm39) unclassified probably benign
R8992:Neurl4 UTSW 11 69,798,958 (GRCm39) missense possibly damaging 0.69
R9334:Neurl4 UTSW 11 69,796,792 (GRCm39) missense probably damaging 1.00
R9509:Neurl4 UTSW 11 69,792,971 (GRCm39) nonsense probably null
R9705:Neurl4 UTSW 11 69,799,679 (GRCm39) missense probably damaging 0.97
R9707:Neurl4 UTSW 11 69,799,679 (GRCm39) missense probably damaging 0.97
R9746:Neurl4 UTSW 11 69,798,301 (GRCm39) missense probably damaging 1.00
X0025:Neurl4 UTSW 11 69,797,627 (GRCm39) missense probably damaging 1.00
Z1177:Neurl4 UTSW 11 69,794,916 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- AGAAGATATGGGGCCTGCTG -3'
(R):5'- CTTTGCTGGACCAGGAGATAG -3'

Sequencing Primer
(F):5'- GCATTGCCAAGGTAGATC -3'
(R):5'- GGAGATAGATCCCACTACCCTGG -3'
Posted On 2021-01-18