Mutagenetix > Incidental Mutation

Incidental Mutation 'R7216:Neurl4'

561487

Institutional Source

Beutler Lab

Gene Symbol

Neurl4

Ensembl Gene

ENSMUSG00000047284

Gene Name

neuralized E3 ubiquitin protein ligase 4

Synonyms

0610025P10Rik

MMRRC Submission

045288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69792545-69804648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69801088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1153 (V1153E)

Ref Sequence

ENSEMBL: ENSMUSP00000135277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000072581] [ENSMUST00000108617] [ENSMUST00000116358] [ENSMUST00000129475] [ENSMUST00000177138] [ENSMUST00000133203] [ENSMUST00000177476]

AlphaFold

Q5NCX5

Predicted Effect

probably benign
Transcript: ENSMUST00000057884

SMART Domains

Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
Pfam:G_path_suppress	5	294	6.1e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000061837
AA Change: V1177E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: V1177E

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

probably damaging
Transcript: ENSMUST00000108617
AA Change: V1155E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: V1155E

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

probably damaging
Transcript: ENSMUST00000177138
AA Change: V1153E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: V1153E

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

probably damaging
Transcript: ENSMUST00000133203
AA Change: V920E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: V920E

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

probably damaging
Transcript: ENSMUST00000177476
AA Change: V1175E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: V1175E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,240 (GRCm39)	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,324,090 (GRCm39)	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,822,839 (GRCm39)	C165S	probably benign	Het
Atp2c1	A	T	9: 105,344,930 (GRCm39)	D102E	probably benign	Het
Capn8	C	A	1: 182,426,363 (GRCm39)	R233S	possibly damaging	Het
Cd48	T	C	1: 171,523,390 (GRCm39)	S78P	probably damaging	Het
Clasp1	T	A	1: 118,475,648 (GRCm39)	D944E	probably benign	Het
Clip2	A	G	5: 134,531,771 (GRCm39)	M678T	probably benign	Het
Clmp	T	C	9: 40,672,205 (GRCm39)	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,845,694 (GRCm39)	V356D	probably damaging	Het
Copg2	A	T	6: 30,862,535 (GRCm39)	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,197,928 (GRCm39)	P229S	unknown	Het
Dgke	T	C	11: 88,941,163 (GRCm39)	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,615,736 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,186,706 (GRCm39)	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Efcab3	A	T	11: 104,771,375 (GRCm39)	K2633N	possibly damaging	Het
Egln2	T	C	7: 26,859,254 (GRCm39)	D365G	probably damaging	Het
Epha4	T	C	1: 77,421,621 (GRCm39)	D287G	probably damaging	Het
Fat4	A	G	3: 38,945,192 (GRCm39)	T1362A	probably damaging	Het
Flt4	A	G	11: 49,525,508 (GRCm39)	T685A	possibly damaging	Het
Fras1	T	C	5: 96,887,173 (GRCm39)	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,547,005 (GRCm39)	E52G	possibly damaging	Het
Gm5093	A	T	17: 46,751,014 (GRCm39)	D4E	not run	Het
Gm6370	A	T	5: 146,430,723 (GRCm39)	T303S	probably benign	Het
Gpr161	A	G	1: 165,134,115 (GRCm39)	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038 (GRCm39)	L254P	probably damaging	Het
H2-M9	C	T	17: 36,951,594 (GRCm39)	V294I	probably benign	Het
Insr	T	A	8: 3,253,034 (GRCm39)	N375I	possibly damaging	Het
Ints1	T	C	5: 139,754,739 (GRCm39)	N600S	possibly damaging	Het
Ints10	A	G	8: 69,274,809 (GRCm39)	N628S	probably damaging	Het
Irf2	A	G	8: 47,246,591 (GRCm39)	T20A	probably benign	Het
Irs1	T	A	1: 82,267,476 (GRCm39)	T247S	probably damaging	Het
Islr	C	T	9: 58,064,250 (GRCm39)	S419N	unknown	Het
Kcna2	T	A	3: 107,012,109 (GRCm39)	I230N	probably damaging	Het
Kif3c	C	A	12: 3,416,126 (GRCm39)	A49E	probably benign	Het
Kifap3	A	T	1: 163,623,558 (GRCm39)	K108N	probably damaging	Het
Lama3	T	A	18: 12,563,057 (GRCm39)	F527I	probably damaging	Het
Layn	A	G	9: 50,988,352 (GRCm39)		probably benign	Het
Lims2	G	T	18: 32,090,315 (GRCm39)	W276L	probably damaging	Het
Lsp1	T	C	7: 142,042,179 (GRCm39)	L133S	probably damaging	Het
Map3k6	T	G	4: 132,974,211 (GRCm39)	V536G	probably damaging	Het
Med7	T	A	11: 46,331,681 (GRCm39)	L92H	probably damaging	Het
Mllt1	A	G	17: 57,234,042 (GRCm39)	V48A	probably damaging	Het
Mtcl2	T	C	2: 156,860,290 (GRCm39)	R1650G	possibly damaging	Het
Nkx2-1	A	C	12: 56,581,587 (GRCm39)	C87G	probably damaging	Het
Nsun7	T	C	5: 66,436,000 (GRCm39)	S291P	probably damaging	Het
Or10n1	A	T	9: 39,525,790 (GRCm39)	Q309L	probably benign	Het
Or13a18	A	T	7: 140,190,373 (GRCm39)	N90I	possibly damaging	Het
Or1p1c	A	T	11: 74,160,550 (GRCm39)	I112F	probably damaging	Het
Or4e1	G	A	14: 52,700,945 (GRCm39)	P174S	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pals1	G	A	12: 78,844,006 (GRCm39)	R70H	probably damaging	Het
Pbrm1	A	G	14: 30,767,379 (GRCm39)	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,719,273 (GRCm39)	T539S	probably benign	Het
Plch2	T	G	4: 155,068,685 (GRCm39)	T1314P	probably benign	Het
Polk	T	C	13: 96,644,728 (GRCm39)	S133G	probably benign	Het
Pramel27	A	G	4: 143,578,399 (GRCm39)	I220V	probably damaging	Het
Prdm5	A	T	6: 65,904,967 (GRCm39)	K533*	probably null	Het
Prmt1	T	A	7: 44,632,997 (GRCm39)	Q35H	probably benign	Het
Pum3	A	T	19: 27,401,625 (GRCm39)	W142R	probably damaging	Het
Rest	G	A	5: 77,430,455 (GRCm39)	R958H	probably benign	Het
Rictor	C	T	15: 6,798,782 (GRCm39)	T343M	probably damaging	Het
Ripor2	G	A	13: 24,855,886 (GRCm39)	G109R	probably damaging	Het
Sec62	C	T	3: 30,872,978 (GRCm39)	Q354*	probably null	Het
Snx14	T	C	9: 88,263,844 (GRCm39)	Y847C	probably damaging	Het
Sox7	A	T	14: 64,185,438 (GRCm39)	D158V	probably benign	Het
Spag8	A	G	4: 43,652,034 (GRCm39)	V350A	possibly damaging	Het
Syngr1	A	T	15: 79,995,934 (GRCm39)	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,511,979 (GRCm39)	V238L	probably benign	Het
Tex15	T	C	8: 34,063,014 (GRCm39)	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,612,793 (GRCm39)	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,718 (GRCm39)	I836T	probably benign	Het
Trim30b	C	A	7: 104,006,569 (GRCm39)	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,383,106 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,031,822 (GRCm39)	H418N	probably benign	Het
Uap1	G	T	1: 169,986,472 (GRCm39)	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,691,606 (GRCm39)	V141A	not run	Het
Vmn1r54	T	A	6: 90,246,647 (GRCm39)	I187K	probably damaging	Het
Vmp1	C	T	11: 86,492,859 (GRCm39)	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,500,511 (GRCm39)	K366R	probably benign	Het
Zfp207	C	T	11: 80,286,004 (GRCm39)	P415L	unknown	Het
Zfp263	A	G	16: 3,562,435 (GRCm39)	E66G	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp985	T	A	4: 147,667,913 (GRCm39)	H260Q	probably damaging	Het
Zmiz1	GCC	GC	14: 25,576,624 (GRCm39)		probably null	Het
Zmiz1	A	G	14: 25,576,633 (GRCm39)	R47G	probably damaging	Het
Zmiz1	A	C	14: 25,576,631 (GRCm39)	Q46P	probably 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
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
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
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'- TGTTTGACGTGTACAAGGGCC -3'
(R):5'- AGGCTTGGGTCACTTCATTC -3'

Sequencing Primer
(F):5'- ATTCTGTTCCCTGCAGCAGTAGAG -3'
(R):5'- GGGTCACTTCATTCTTCCTGGG -3'

Posted On

2019-06-26