Incidental Mutation 'R2046:Neurl4'
ID 221995
Institutional Source Beutler Lab
Gene Symbol Neurl4
Ensembl Gene ENSMUSG00000047284
Gene Name neuralized E3 ubiquitin protein ligase 4
Synonyms 0610025P10Rik
MMRRC Submission 040053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2046 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69792545-69804648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69799523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 942 (D942G)
Ref Sequence ENSEMBL: ENSMUSP00000135277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061837] [ENSMUST00000108617] [ENSMUST00000129475] [ENSMUST00000133203] [ENSMUST00000177138] [ENSMUST00000177476]
AlphaFold Q5NCX5
Predicted Effect probably damaging
Transcript: ENSMUST00000061837
AA Change: D966G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: D966G

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: D944G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: D944G

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 probably benign
Transcript: ENSMUST00000133203
AA Change: D709G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: D709G

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: ENSMUST00000177138
AA Change: D942G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: D942G

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: D964G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: D964G

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 noncoding transcript
Transcript: ENSMUST00000175742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177160
Meta Mutation Damage Score 0.2435 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (71/73)
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
4930503L19Rik T A 18: 70,600,553 (GRCm39) D84V probably damaging Het
Abcc5 A T 16: 20,218,567 (GRCm39) S272T possibly damaging Het
Adgre4 A G 17: 56,085,847 (GRCm39) N49D possibly damaging Het
Ap2b1 A T 11: 83,227,212 (GRCm39) Y328F probably benign Het
Arhgef33 G C 17: 80,680,895 (GRCm39) E678D probably benign Het
Arid2 G A 15: 96,267,268 (GRCm39) V583I probably damaging Het
Bdkrb1 T A 12: 105,570,985 (GRCm39) S184T probably benign Het
Bend3 T C 10: 43,387,842 (GRCm39) F745S probably damaging Het
Card10 A T 15: 78,671,673 (GRCm39) V597E possibly damaging Het
Casp3 T A 8: 47,082,761 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,316,629 (GRCm39) V340A probably benign Het
Cdkl3 G T 11: 51,917,677 (GRCm39) V325L probably benign Het
Clec4n T A 6: 123,223,463 (GRCm39) N153K probably benign Het
Crtac1 C T 19: 42,322,492 (GRCm39) V83I probably damaging Het
Cul9 C A 17: 46,854,659 (GRCm39) L14F probably damaging Het
Dgka T C 10: 128,559,404 (GRCm39) Y519C probably damaging Het
Dhrs7 T G 12: 72,699,040 (GRCm39) K314T possibly damaging Het
Dnaaf9 T A 2: 130,652,837 (GRCm39) I42L possibly damaging Het
Dnah10 G T 5: 124,873,405 (GRCm39) K2542N probably benign Het
Dock5 A T 14: 68,049,591 (GRCm39) V731E probably benign Het
Dpy19l1 T A 9: 24,334,455 (GRCm39) H571L probably damaging Het
Dzip1 A T 14: 119,159,890 (GRCm39) I106N probably damaging Het
Eif2ak4 A T 2: 118,281,889 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,799 (GRCm39) Y70C probably damaging Het
Eps15 T C 4: 109,227,793 (GRCm39) F344S probably damaging Het
Erbb4 C T 1: 68,337,482 (GRCm39) R612Q probably benign Het
Fam83h T C 15: 75,874,787 (GRCm39) H850R probably benign Het
Fancg A G 4: 43,004,604 (GRCm39) C484R probably damaging Het
Fzd9 A G 5: 135,278,538 (GRCm39) I449T probably damaging Het
Gm10647 A G 9: 66,705,519 (GRCm39) probably benign Het
Iigp1c T A 18: 60,378,571 (GRCm39) H35Q probably benign Het
Itga11 C T 9: 62,634,979 (GRCm39) L86F probably damaging Het
Lamc2 C T 1: 153,017,511 (GRCm39) R492H probably benign Het
Marchf6 A G 15: 31,486,580 (GRCm39) V325A probably benign Het
Myo5b A T 18: 74,710,526 (GRCm39) I47F probably benign Het
Nek9 T A 12: 85,367,481 (GRCm39) probably benign Het
Nelfb T A 2: 25,096,323 (GRCm39) N262I probably damaging Het
Nipbl G A 15: 8,353,951 (GRCm39) P1729S probably benign Het
Nr4a3 A G 4: 48,067,807 (GRCm39) T468A possibly damaging Het
Nrm G A 17: 36,175,109 (GRCm39) V146I probably benign Het
Or8h9 C A 2: 86,789,077 (GRCm39) A242S possibly damaging Het
Pitx3 T C 19: 46,125,618 (GRCm39) E42G possibly damaging Het
Pkd1l2 C T 8: 117,726,694 (GRCm39) A2271T probably damaging Het
Pofut2 A G 10: 77,096,428 (GRCm39) N51S probably damaging Het
Ppp1r3a T C 6: 14,722,103 (GRCm39) E273G probably benign Het
Psme4 A G 11: 30,767,723 (GRCm39) probably benign Het
Pus7l T C 15: 94,438,666 (GRCm39) I60V probably benign Het
Pygo2 T A 3: 89,340,455 (GRCm39) N284K possibly damaging Het
Ralgapa1 C T 12: 55,741,945 (GRCm39) C1368Y probably damaging Het
Rbm45 G A 2: 76,205,742 (GRCm39) G198E probably benign Het
Reln T C 5: 22,147,625 (GRCm39) I2442V probably benign Het
Rmi1 T C 13: 58,555,772 (GRCm39) V7A probably benign Het
Rsf1 T C 7: 97,310,884 (GRCm39) L538P probably benign Het
Rsph4a T G 10: 33,790,539 (GRCm39) probably benign Het
Sardh A T 2: 27,105,094 (GRCm39) D676E possibly damaging Het
Sh3tc2 A G 18: 62,123,914 (GRCm39) M892V probably benign Het
Slc38a11 A G 2: 65,188,529 (GRCm39) F80S probably damaging Het
Slc6a2 C A 8: 93,699,554 (GRCm39) S194* probably null Het
Slco2b1 A G 7: 99,339,686 (GRCm39) F86L probably damaging Het
Smc3 G A 19: 53,627,845 (GRCm39) D875N probably benign Het
Sp100 G A 1: 85,636,786 (GRCm39) E575K possibly damaging Het
Spns2 A G 11: 72,349,866 (GRCm39) L196P possibly damaging Het
Taf8 A G 17: 47,801,201 (GRCm39) S261P probably benign Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Ttn C A 2: 76,738,138 (GRCm39) V4134F probably benign Het
Ush2a A G 1: 188,089,124 (GRCm39) T360A probably benign Het
Usp28 T A 9: 48,950,375 (GRCm39) C935S probably damaging Het
Vps37d T A 5: 135,102,831 (GRCm39) M134L probably benign Het
Vwa2 T G 19: 56,894,010 (GRCm39) V329G probably benign Het
Zfp110 A G 7: 12,583,349 (GRCm39) R666G 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
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
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'- CCGATTCCATAGCATGTGTGGC -3'
(R):5'- TTCATCCTTTGGAGGTGCCC -3'

Sequencing Primer
(F):5'- TGGCAAGAATGTCACTCTGG -3'
(R):5'- TTTGGAGGTGCCCATCAC -3'
Posted On 2014-08-25