Incidental Mutation 'R1936:Neurl4'
ID 215826
Institutional Source Beutler Lab
Gene Symbol Neurl4
Ensembl Gene ENSMUSG00000047284
Gene Name neuralized E3 ubiquitin protein ligase 4
Synonyms 0610025P10Rik
MMRRC Submission 039954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69792545-69804648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69797959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 740 (R740C)
Ref Sequence ENSEMBL: ENSMUSP00000135185 (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: R740C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: R740C

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: R718C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: R718C

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 damaging
Transcript: ENSMUST00000133203
AA Change: R483C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: R483C

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 probably damaging
Transcript: ENSMUST00000177138
AA Change: R718C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: R718C

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: R740C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: R740C

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: ENSMUST00000176614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177160
Meta Mutation Damage Score 0.8983 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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
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'- GTGGCCTTGGGAATCCTTAAAG -3'
(R):5'- GACCAACGATCTACCATCTTCTG -3'

Sequencing Primer
(F):5'- GGCCTTGGGAATCCTTAAAGAAACC -3'
(R):5'- ACGATCTACCATCTTCTGAATGAC -3'
Posted On 2014-07-14