Mutagenetix > Incidental Mutation

Incidental Mutation 'P0022:Neurl4'

15791

Institutional Source

Beutler Lab

Gene Symbol

Neurl4

Ensembl Gene

ENSMUSG00000047284

Gene Name

neuralized E3 ubiquitin protein ligase 4

Synonyms

0610025P10Rik

MMRRC Submission

038275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69792545-69804648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69799891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1058 (M1058I)

Ref Sequence

ENSEMBL: ENSMUSP00000053235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061837] [ENSMUST00000072581] [ENSMUST00000108617] [ENSMUST00000116358] [ENSMUST00000129475] [ENSMUST00000133203] [ENSMUST00000177476] [ENSMUST00000177138]

AlphaFold

Q5NCX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061837
AA Change: M1058I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: M1058I

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
SCOP:d1jjva_	22	83	9e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108617
AA Change: M1036I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: M1036I

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
SCOP:d1jjva_	22	83	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129475

SMART Domains

Protein: ENSMUSP00000135733
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	161	172	N/A	INTRINSIC
low complexity region	182	191	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133203
AA Change: M801I

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: M801I

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000177476
AA Change: M1056I

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: M1056I

Domain	Start	End	E-Value	Type
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: M1034I

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: M1034I

Domain	Start	End	E-Value	Type
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: ENSMUST00000143861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153041

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 82.1%
3x: 71.1%
10x: 39.6%
20x: 16.7%

Validation Efficiency

86% (38/44)

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcat2	T	C	7: 45,237,769 (GRCm39)	V305A	probably damaging	Het
Cdc42bpa	A	G	1: 179,788,841 (GRCm39)	Y56C	probably damaging	Het
Dok7	C	T	5: 35,232,755 (GRCm39)	P214L	probably damaging	Het
Mcf2l	A	T	8: 13,068,897 (GRCm39)	K1080*	probably null	Het
Mep1b	T	C	18: 21,221,598 (GRCm39)		probably benign	Het
Tet2	C	A	3: 133,192,654 (GRCm39)	M593I	probably benign	Het
Tubb4a	T	C	17: 57,388,538 (GRCm39)	I163V	probably benign	Het
Zc3h12a	T	A	4: 125,013,202 (GRCm39)	Y554F	possibly damaging	Het

Other mutations in Neurl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-01-04