Incidental Mutation 'R4969:Neurl4'
ID 384287
Institutional Source Beutler Lab
Gene Symbol Neurl4
Ensembl Gene ENSMUSG00000047284
Gene Name neuralized E3 ubiquitin protein ligase 4
Synonyms 0610025P10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4969 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69792545-69804648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69801913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000072581] [ENSMUST00000108617] [ENSMUST00000116358] [ENSMUST00000129475] [ENSMUST00000177476] [ENSMUST00000177138] [ENSMUST00000134581] [ENSMUST00000133203]
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 probably benign
Transcript: ENSMUST00000061837
AA Change: D1310G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: D1310G

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: D1288G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: D1288G

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 noncoding transcript
Transcript: ENSMUST00000124596
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 damaging
Transcript: ENSMUST00000132183
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118868
Gene: ENSMUSG00000047284
AA Change: D17G

DomainStartEndE-ValueType
low complexity region 161 172 N/A INTRINSIC
low complexity region 182 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177476
AA Change: D1308G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: D1308G

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
Predicted Effect probably benign
Transcript: ENSMUST00000177138
AA Change: D1286G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: D1286G

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 noncoding transcript
Transcript: ENSMUST00000175761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153041
Predicted Effect probably benign
Transcript: ENSMUST00000134581
Predicted Effect probably benign
Transcript: ENSMUST00000133203
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,754,943 (GRCm39) I1525T probably benign Het
Agtpbp1 A G 13: 59,648,392 (GRCm39) V476A probably benign Het
Aipl1 A G 11: 71,922,256 (GRCm39) I151T probably benign Het
Apc C T 18: 34,445,971 (GRCm39) R938* probably null Het
Atp2a2 A G 5: 122,596,554 (GRCm39) F855S possibly damaging Het
Axdnd1 T C 1: 156,223,075 (GRCm39) T261A possibly damaging Het
Cbfa2t2 A G 2: 154,365,900 (GRCm39) D370G probably damaging Het
Cep350 T C 1: 155,736,025 (GRCm39) I2964V probably damaging Het
Clec16a T C 16: 10,386,375 (GRCm39) V158A probably damaging Het
Col6a5 G A 9: 105,741,806 (GRCm39) T2371I probably damaging Het
Cpne8 T C 15: 90,503,929 (GRCm39) T79A probably damaging Het
Cyp2b13 A G 7: 25,780,413 (GRCm39) R145G probably damaging Het
Disc1 G A 8: 125,851,289 (GRCm39) W391* probably null Het
Dnah8 G A 17: 30,941,988 (GRCm39) V1745I probably damaging Het
Dsp T C 13: 38,376,886 (GRCm39) V1557A probably benign Het
Egfem1 T A 3: 29,637,145 (GRCm39) Y194N probably damaging Het
Eif4a3 A G 11: 119,179,705 (GRCm39) Y361H probably damaging Het
Esd T A 14: 74,982,153 (GRCm39) S189R possibly damaging Het
Fancf A T 7: 51,511,196 (GRCm39) Y269* probably null Het
Fbln2 A T 6: 91,248,569 (GRCm39) H1078L possibly damaging Het
Fbxw13 A G 9: 109,010,592 (GRCm39) probably null Het
Fcgr2b A T 1: 170,790,941 (GRCm39) V284D probably benign Het
Fuz G A 7: 44,549,718 (GRCm39) G363R probably damaging Het
Gas7 A G 11: 67,574,234 (GRCm39) E403G probably damaging Het
Gnl1 A G 17: 36,291,581 (GRCm39) D49G possibly damaging Het
Gucy2g A G 19: 55,214,445 (GRCm39) V561A probably benign Het
H1f7 A T 15: 98,154,216 (GRCm39) V311E unknown Het
Hebp2 T C 10: 18,420,122 (GRCm39) T104A probably benign Het
Ighv1-19 T A 12: 114,672,377 (GRCm39) Q80L probably benign Het
Kctd19 T A 8: 106,122,959 (GRCm39) probably null Het
Kdm3b T C 18: 34,955,428 (GRCm39) L905P probably damaging Het
Klkb1 T C 8: 45,735,814 (GRCm39) D183G probably benign Het
Krt6b T C 15: 101,588,460 (GRCm39) R67G possibly damaging Het
Krt75 T C 15: 101,482,248 (GRCm39) I7V probably benign Het
Lpo A T 11: 87,697,751 (GRCm39) N685K probably benign Het
Mroh7 A T 4: 106,538,070 (GRCm39) I1202N probably benign Het
Muc4 T A 16: 32,754,572 (GRCm38) M1482K probably benign Het
Mylk T A 16: 34,791,810 (GRCm39) V1494E probably damaging Het
Nkx6-3 A G 8: 23,647,725 (GRCm39) Y228C probably damaging Het
Nprl2 G A 9: 107,420,273 (GRCm39) probably null Het
Nxf1 A G 19: 8,739,669 (GRCm39) probably null Het
Or4a39 A G 2: 89,236,770 (GRCm39) F218L probably benign Het
Or52u1 A T 7: 104,237,730 (GRCm39) N240Y probably damaging Het
Pde3b A G 7: 114,118,847 (GRCm39) E662G possibly damaging Het
Plekhm3 G A 1: 64,977,078 (GRCm39) R131C probably damaging Het
Plpp7 T C 2: 31,985,950 (GRCm39) S43P probably benign Het
Pramel5 A G 4: 143,998,187 (GRCm39) L352P probably damaging Het
Prepl T C 17: 85,395,902 (GRCm39) S27G probably benign Het
Ptprd A G 4: 76,051,542 (GRCm39) I227T probably damaging Het
Pttg1ip C T 10: 77,419,854 (GRCm39) Q6* probably null Het
Rgl1 C T 1: 152,424,813 (GRCm39) probably null Het
Riiad1 C A 3: 94,380,173 (GRCm39) G41* probably null Het
Rnf214 C T 9: 45,807,486 (GRCm39) R239H probably damaging Het
Rpap3 C T 15: 97,584,407 (GRCm39) V346I probably benign Het
Scaf4 G A 16: 90,048,831 (GRCm39) Q328* probably null Het
Sec23a A G 12: 59,051,274 (GRCm39) probably null Het
Slc5a8 T A 10: 88,740,774 (GRCm39) probably null Het
Slc9a8 A G 2: 167,288,449 (GRCm39) T183A probably benign Het
Sod3 A T 5: 52,525,736 (GRCm39) H145L probably damaging Het
Sp4 A G 12: 118,263,341 (GRCm39) V235A probably damaging Het
Spp1 A C 5: 104,588,153 (GRCm39) E185A possibly damaging Het
Susd1 A T 4: 59,351,679 (GRCm39) W461R probably benign Het
Svil A C 18: 5,095,516 (GRCm39) K1124Q probably damaging Het
Tdrd12 A T 7: 35,186,720 (GRCm39) probably null Het
Terb1 A T 8: 105,221,795 (GRCm39) N168K probably benign Het
Tnnt1 A G 7: 4,510,573 (GRCm39) L216P probably damaging Het
Ttc28 A G 5: 111,424,121 (GRCm39) K1463E probably damaging Het
Twf2 T G 9: 106,089,098 (GRCm39) probably null Het
Urb1 C T 16: 90,602,299 (GRCm39) R90Q probably damaging Het
Wdr45b A T 11: 121,219,650 (GRCm39) C299* probably null Het
Wrap73 A G 4: 154,237,138 (GRCm39) S54G probably damaging Het
Zeb2 T C 2: 44,888,931 (GRCm39) K323R probably damaging Het
Zfp410 T C 12: 84,378,582 (GRCm39) I302T possibly 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
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
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'- ACTGGTGGACCTCTATGGAC -3'
(R):5'- CATGGTACTCGCAGCTCTTTAAAG -3'

Sequencing Primer
(F):5'- ACCTCTATGGACAGTGTGAGC -3'
(R):5'- TCATAAGAGCTGGGCTAG -3'
Posted On 2016-04-27