Incidental Mutation 'R4968:Neurl4'
ID 384205
Institutional Source Beutler Lab
Gene Symbol Neurl4
Ensembl Gene ENSMUSG00000047284
Gene Name neuralized E3 ubiquitin protein ligase 4
Synonyms 0610025P10Rik
MMRRC Submission 042564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4968 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69792545-69804648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69798134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 771 (M771T)
Ref Sequence ENSEMBL: ENSMUSP00000053235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061837] [ENSMUST00000108617] [ENSMUST00000129475] [ENSMUST00000133203] [ENSMUST00000177476] [ENSMUST00000177138]
AlphaFold Q5NCX5
Predicted Effect probably damaging
Transcript: ENSMUST00000061837
AA Change: M771T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: M771T

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: M749T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: M749T

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: 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 possibly damaging
Transcript: ENSMUST00000133203
AA Change: M514T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: M514T

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 noncoding transcript
Transcript: ENSMUST00000143861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153041
Predicted Effect probably damaging
Transcript: ENSMUST00000177476
AA Change: M771T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: M771T

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 possibly damaging
Transcript: ENSMUST00000177138
AA Change: M749T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: M749T

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: ENSMUST00000176614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175761
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,769,616 (GRCm39) K53* probably null Het
4921513D11Rik T C 17: 79,935,651 (GRCm39) S255P probably benign Het
Ace A G 11: 105,872,679 (GRCm39) N367S possibly damaging Het
Agl A T 3: 116,582,175 (GRCm39) N282K probably benign Het
Ahnak C A 19: 8,992,464 (GRCm39) P4583T probably damaging Het
Alpi T C 1: 87,029,247 (GRCm39) D4G probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Aplnr T C 2: 84,967,289 (GRCm39) Y105H probably damaging Het
Arhgap9 G A 10: 127,162,875 (GRCm39) R395K possibly damaging Het
Asah1 A G 8: 41,807,067 (GRCm39) M119T Het
Atp5f1b T C 10: 127,919,856 (GRCm39) F75L probably damaging Het
B4galt6 G T 18: 20,861,026 (GRCm39) N75K possibly damaging Het
Bco1 A T 8: 117,857,833 (GRCm39) H486L probably benign Het
Btaf1 T A 19: 36,947,351 (GRCm39) L480Q probably null Het
Ccdc34 G T 2: 109,871,078 (GRCm39) probably null Het
Cdh19 T C 1: 110,852,958 (GRCm39) S326G probably benign Het
Cep89 A G 7: 35,109,055 (GRCm39) D178G possibly damaging Het
Cyp11b2 A T 15: 74,725,854 (GRCm39) probably null Het
Cyp21a1 A G 17: 35,022,383 (GRCm39) I157T possibly damaging Het
Dcbld2 A G 16: 58,245,074 (GRCm39) D116G probably damaging Het
Ddx5 T C 11: 106,674,953 (GRCm39) Q377R probably damaging Het
Deup1 T C 9: 15,503,724 (GRCm39) D279G probably damaging Het
F11 G A 8: 45,698,770 (GRCm39) A458V probably benign Het
Fhad1 C A 4: 141,645,618 (GRCm39) G326W probably damaging Het
Fhit C T 14: 10,421,522 (GRCm38) V26M probably damaging Het
Gjb5 A T 4: 127,250,015 (GRCm39) V43E probably damaging Het
Grtp1 A T 8: 13,242,184 (GRCm39) I75N probably damaging Het
Hmcn1 A G 1: 150,533,221 (GRCm39) I3022T possibly damaging Het
Hsp90ab1 T C 17: 45,881,962 (GRCm39) T166A probably benign Het
Ift70b T C 2: 75,768,391 (GRCm39) I121V probably benign Het
Iho1 C T 9: 108,289,713 (GRCm39) V170M probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Kcnk10 T C 12: 98,401,161 (GRCm39) I491V probably benign Het
Kcp A T 6: 29,497,628 (GRCm39) C519* probably null Het
Lcmt2 T C 2: 120,970,217 (GRCm39) T69A probably benign Het
Lmf1 A G 17: 25,804,592 (GRCm39) Y90C probably damaging Het
Lpp A G 16: 24,798,064 (GRCm39) D612G probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1b T C 2: 40,592,719 (GRCm39) probably null Het
Lrp1b C T 2: 41,679,074 (GRCm39) C6Y probably damaging Het
Lrrc8c A G 5: 105,754,993 (GRCm39) D256G probably damaging Het
Mphosph10 A G 7: 64,032,656 (GRCm39) Y478H probably damaging Het
Mpp2 T C 11: 101,955,124 (GRCm39) H167R probably benign Het
Mtss1 A G 15: 58,815,767 (GRCm39) S598P probably damaging Het
Myh10 A G 11: 68,684,049 (GRCm39) E1154G probably damaging Het
Myo10 T C 15: 25,808,270 (GRCm39) V1218A probably damaging Het
Myo19 A G 11: 84,792,328 (GRCm39) K599R probably damaging Het
Nlrc4 A G 17: 74,753,936 (GRCm39) V149A probably benign Het
Nup133 A T 8: 124,641,935 (GRCm39) S843T probably benign Het
Or2y1c T C 11: 49,361,358 (GRCm39) C127R probably damaging Het
Or51k1 T C 7: 103,661,777 (GRCm39) N44S probably damaging Het
P3h2 A G 16: 25,811,412 (GRCm39) probably null Het
Piezo2 A T 18: 63,278,042 (GRCm39) Y287* probably null Het
Prob1 T C 18: 35,785,605 (GRCm39) Y883C probably damaging Het
Pxdn T A 12: 30,050,011 (GRCm39) H506Q probably benign Het
Ripor3 T C 2: 167,827,037 (GRCm39) D658G probably benign Het
Rufy1 T A 11: 50,301,434 (GRCm39) I333L probably benign Het
Selenok T A 14: 29,692,064 (GRCm39) V34E probably benign Het
Selplg T C 5: 113,957,787 (GRCm39) E173G possibly damaging Het
Septin10 A G 10: 59,016,943 (GRCm39) F194L probably damaging Het
Sptbn2 A T 19: 4,779,230 (GRCm39) probably null Het
St6galnac6 C T 2: 32,498,098 (GRCm39) P6S probably benign Het
Syngr2 T C 11: 117,704,296 (GRCm39) Y194H probably damaging Het
Thbs4 A G 13: 92,894,576 (GRCm39) I649T possibly damaging Het
Triobp T A 15: 78,850,816 (GRCm39) N323K probably benign Het
Tuba8 T A 6: 121,197,548 (GRCm39) L70Q probably damaging Het
Vmn2r61 A G 7: 41,949,478 (GRCm39) T633A probably benign Het
Zfp280b G T 10: 75,875,188 (GRCm39) V356L probably damaging Het
Zswim4 A T 8: 84,944,001 (GRCm39) V746D 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
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
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'- GGCAGTAATGCAGTCATCACC -3'
(R):5'- CGTATCATAGTCAATGTCTGTCATGG -3'

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