Incidental Mutation 'R9334:Neurl4'
ID 707013
Institutional Source Beutler Lab
Gene Symbol Neurl4
Ensembl Gene ENSMUSG00000047284
Gene Name neuralized E3 ubiquitin protein ligase 4
Synonyms 0610025P10Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9334 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69792545-69804648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69796792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 518 (R518S)
Ref Sequence ENSEMBL: ENSMUSP00000135277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061837] [ENSMUST00000108617] [ENSMUST00000129475] [ENSMUST00000133203] [ENSMUST00000144431] [ENSMUST00000177138] [ENSMUST00000177476]
AlphaFold Q5NCX5
Predicted Effect probably damaging
Transcript: ENSMUST00000061837
AA Change: R540S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: R540S

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 damaging
Transcript: ENSMUST00000108617
AA Change: R518S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: R518S

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 possibly damaging
Transcript: ENSMUST00000129475
AA Change: R217S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135733
Gene: ENSMUSG00000047284
AA Change: R217S

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 damaging
Transcript: ENSMUST00000133203
AA Change: R283S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: R283S

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: ENSMUST00000144431
SMART Domains Protein: ENSMUSP00000135926
Gene: ENSMUSG00000018570

DomainStartEndE-ValueType
low complexity region 86 108 N/A INTRINSIC
low complexity region 115 127 N/A INTRINSIC
low complexity region 132 144 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177138
AA Change: R518S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: R518S

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 probably damaging
Transcript: ENSMUST00000177476
AA Change: R540S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: R540S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,739,251 (GRCm39) I346N probably damaging Het
Adam6b A C 12: 113,454,768 (GRCm39) E528D probably damaging Het
Ang A G 14: 51,339,017 (GRCm39) M53V possibly damaging Het
Ankrd26 G A 6: 118,509,262 (GRCm39) A601V probably benign Het
Atp6v0d2 A G 4: 19,890,695 (GRCm39) L155P probably damaging Het
Cacna1a T C 8: 85,296,594 (GRCm39) V1204A probably damaging Het
Car4 A G 11: 84,855,415 (GRCm39) I183V probably benign Het
Ccdc149 G T 5: 52,578,171 (GRCm39) A87E possibly damaging Het
Ccdc88b A G 19: 6,833,541 (GRCm39) M208T possibly damaging Het
Ccnt2 T C 1: 127,723,046 (GRCm39) L162S probably damaging Het
Cd27 A G 6: 125,213,718 (GRCm39) probably null Het
Cfap44 C A 16: 44,239,654 (GRCm39) T567K probably damaging Het
Cpne5 C T 17: 29,423,673 (GRCm39) V152M probably benign Het
Cyp2u1 C T 3: 131,092,065 (GRCm39) V152M probably damaging Het
Dnajc13 A T 9: 104,051,659 (GRCm39) F1733I probably benign Het
Dop1a A G 9: 86,403,027 (GRCm39) Y1409C probably damaging Het
Ecm2 T C 13: 49,677,815 (GRCm39) M367T probably benign Het
Eif4g2 A G 7: 110,674,031 (GRCm39) S658P possibly damaging Het
Exoc3l4 T C 12: 111,397,117 (GRCm39) L666P probably damaging Het
Fbxl4 G A 4: 22,376,778 (GRCm39) M71I probably damaging Het
Fbxw10 T C 11: 62,765,910 (GRCm39) S727P possibly damaging Het
Fem1b A T 9: 62,703,604 (GRCm39) L552* probably null Het
Filip1 A T 9: 79,725,739 (GRCm39) V960D probably benign Het
Glipr1l3 A T 10: 111,979,948 (GRCm39) M198K probably benign Het
Gm19410 T A 8: 36,270,722 (GRCm39) C1216* probably null Het
Gmps T A 3: 63,889,864 (GRCm39) V81E probably damaging Het
Gpr150 G T 13: 76,204,103 (GRCm39) Q281K probably benign Het
Grsf1 A G 5: 88,820,469 (GRCm39) V221A probably damaging Het
Gsc T A 12: 104,439,353 (GRCm39) I8F probably damaging Het
Homer2 A T 7: 81,261,078 (GRCm39) C284* probably null Het
Hrg T A 16: 22,780,061 (GRCm39) H446Q unknown Het
Jag1 C T 2: 136,943,593 (GRCm39) R201H probably damaging Het
Kctd15 C T 7: 34,341,483 (GRCm39) R148H possibly damaging Het
Klhdc7a G A 4: 139,693,493 (GRCm39) R485C probably benign Het
Ldhd T A 8: 112,353,980 (GRCm39) I407F probably benign Het
Lgals12 G A 19: 7,578,086 (GRCm39) R192C probably benign Het
Lmf2 G A 15: 89,239,577 (GRCm39) L26F probably damaging Het
Lum A T 10: 97,404,347 (GRCm39) I81F probably damaging Het
Map1b G T 13: 99,568,148 (GRCm39) D1524E unknown Het
Marveld3 A G 8: 110,675,036 (GRCm39) L260S probably damaging Het
Mms19 C T 19: 41,942,203 (GRCm39) R555H probably benign Het
Mrpl37 G A 4: 106,921,605 (GRCm39) T208I probably benign Het
Mug1 A T 6: 121,838,490 (GRCm39) T498S probably benign Het
Myo3b T C 2: 70,047,360 (GRCm39) C289R probably damaging Het
Myo7a A T 7: 97,716,369 (GRCm39) F1459Y probably damaging Het
Nmnat2 T G 1: 152,949,585 (GRCm39) V43G probably damaging Het
Or2b11 T C 11: 59,462,272 (GRCm39) Y98C probably damaging Het
Or2n1b T A 17: 38,459,840 (GRCm39) F120L probably benign Het
Or6c6c A G 10: 129,541,683 (GRCm39) N312S probably benign Het
Otog A G 7: 45,909,353 (GRCm39) T608A possibly damaging Het
Pck2 G A 14: 55,785,283 (GRCm39) R482Q probably damaging Het
Pcx G A 19: 4,670,532 (GRCm39) M1013I probably benign Het
Pex13 A G 11: 23,605,630 (GRCm39) M200T probably benign Het
Pigt CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC 2: 164,349,420 (GRCm39) probably null Het
Pramel32 A T 4: 88,548,186 (GRCm39) I73K probably damaging Het
Ptpn4 T C 1: 119,730,114 (GRCm39) H26R probably benign Het
Ralgps2 T A 1: 156,715,599 (GRCm39) E72V probably damaging Het
Relch T A 1: 105,654,179 (GRCm39) F873L possibly damaging Het
Scube1 A T 15: 83,512,264 (GRCm39) C396S possibly damaging Het
Sec23b T A 2: 144,410,550 (GRCm39) N283K possibly damaging Het
Setx T A 2: 29,044,032 (GRCm39) Y1800* probably null Het
Sgce G T 6: 4,707,205 (GRCm39) S213R probably damaging Het
Skic3 C A 13: 76,281,076 (GRCm39) T704N possibly damaging Het
Slc36a2 T C 11: 55,075,865 (GRCm39) probably benign Het
Sult5a1 A T 8: 123,875,146 (GRCm39) D129E probably damaging Het
Tacr1 A T 6: 82,380,913 (GRCm39) H108L probably damaging Het
Tnfsf10 T A 3: 27,389,496 (GRCm39) Y186N probably damaging Het
Unc80 T C 1: 66,688,919 (GRCm39) S2428P possibly damaging Het
Vwf G A 6: 125,654,909 (GRCm39) R2535H Het
Zfp532 A G 18: 65,756,128 (GRCm39) I20M probably damaging 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
R8354:Neurl4 UTSW 11 69,800,062 (GRCm39) missense probably damaging 0.97
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
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'- GGCAGTGAAAGTGACCATCG -3'
(R):5'- GAGTGTGTCAAGGCTTAAACTAG -3'

Sequencing Primer
(F):5'- TGAAAGTGACCATCGTCCATAATAAC -3'
(R):5'- GGAATATTAGTCTGATACCCACTGCC -3'
Posted On 2022-04-18