Mutagenetix > Incidental Mutations

Incidental Mutation 'R5503:Neurl4'

430754

Institutional Source

Beutler Lab

Gene Symbol

Neurl4

Ensembl Gene

ENSMUSG00000047284

Gene Name

neuralized E3 ubiquitin protein ligase 4

Synonyms

0610025P10Rik

MMRRC Submission

043064-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69901072-69913820 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69906368 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 594 (Y594N)

Ref Sequence

ENSEMBL: ENSMUSP00000053235 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061837
AA Change: Y594N

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

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: Y594N

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 damaging
Transcript: ENSMUST00000108617
AA Change: Y572N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: Y572N

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: 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 benign
Transcript: ENSMUST00000133203
AA Change: Y337N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: Y337N

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

noncoding transcript
Transcript: ENSMUST00000143861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176614

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177138
AA Change: Y572N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: Y572N

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: ENSMUST00000177160

Predicted Effect

probably benign
Transcript: ENSMUST00000177476
AA Change: Y594N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: Y594N

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

Meta Mutation Damage Score

0.1437

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

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
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
Abca6	A	G	11: 110,218,257	S696P	probably damaging	Het
Abca9	G	A	11: 110,141,610	T727M	probably damaging	Het
Alpk2	T	C	18: 65,306,241	R1161G	probably benign	Het
Amy1	T	C	3: 113,556,060	D487G	probably benign	Het
Arap2	G	A	5: 62,630,186	A1409V	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,802	Y334N	probably benign	Het
B4galt6	C	A	18: 20,745,352		probably null	Het
Cacna1s	G	A	1: 136,086,742	G382D	probably damaging	Het
Camk2a	A	G	18: 60,978,000	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,534	Y492C	probably damaging	Het
Col18a1	C	T	10: 77,071,620	G861D	probably damaging	Het
Col4a3bp	C	T	13: 96,543,239	R26C	possibly damaging	Het
Crybg1	C	A	10: 43,998,766	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,461,473	L27F	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dapk1	T	C	13: 60,725,312	F343L	probably benign	Het
Dgat1	A	T	15: 76,502,194		probably benign	Het
Dnah11	C	A	12: 117,880,451		probably null	Het
Dsg2	T	A	18: 20,580,651	Y226*	probably null	Het
Epg5	T	A	18: 77,951,207	M351K	possibly damaging	Het
F13b	A	G	1: 139,522,543	T648A	probably benign	Het
Fgf17	T	C	14: 70,636,968	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,327,887	P435S	probably benign	Het
Gfm1	G	A	3: 67,453,727		probably null	Het
Gigyf1	T	C	5: 137,523,467		probably benign	Het
Gm12830	A	T	4: 114,821,739	T6S	unknown	Het
Gm6465	A	T	5: 11,848,183	N88I	probably damaging	Het
Gpr18	C	T	14: 121,911,747	V289I	probably damaging	Het
Ipp	G	T	4: 116,537,938	E557*	probably null	Het
Klhl12	T	A	1: 134,485,915		probably null	Het
Klhl38	A	G	15: 58,322,349	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,931,889	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,819,876	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,573,976	K118E	probably benign	Het
Marf1	A	C	16: 14,152,231	L208R	probably damaging	Het
Misp	G	A	10: 79,826,718	R323K	probably damaging	Het
Mlxip	T	A	5: 123,395,327	M133K	probably damaging	Het
Mon2	A	T	10: 123,032,645	M501K	possibly damaging	Het
Myh2	A	G	11: 67,173,449	I77V	probably benign	Het
Napa	C	A	7: 16,115,624	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,425,622	G1000V	probably damaging	Het
Neo1	A	T	9: 58,985,650	S236R	possibly damaging	Het
Nmral1	G	A	16: 4,715,629	P94L	probably benign	Het
Notch3	A	T	17: 32,147,055	I1024N	probably benign	Het
Nsd1	T	A	13: 55,245,939	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,433,057	D143G	probably benign	Het
Olfr1415	C	A	1: 92,491,196	K186N	probably benign	Het
Olfr27	A	G	9: 39,144,484	N128S	probably benign	Het
Olfr316	T	A	11: 58,758,328	V221E	probably damaging	Het
Olfr45	A	C	7: 140,691,396	M164L	probably benign	Het
Olfr77	A	G	9: 19,920,379	T57A	probably benign	Het
Olfr912	T	C	9: 38,582,072	V265A	probably benign	Het
Oplah	A	G	15: 76,305,446		probably null	Het
Phb2	T	A	6: 124,713,022		probably benign	Het
Plcl2	A	G	17: 50,509,929	I108V	probably benign	Het
Plpp6	T	A	19: 28,964,746	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,138,156	G189E	probably damaging	Het
Ptprn	C	T	1: 75,251,875	V853M	probably damaging	Het
Ptprq	T	C	10: 107,688,328		probably null	Het
Rai1	G	A	11: 60,186,453	V448I	probably benign	Het
Rbm20	T	A	19: 53,851,354	C925S	possibly damaging	Het
Rin3	C	A	12: 102,313,055	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,119,507		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,635,126		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,907,883	D133E	probably benign	Het
Ryr1	T	C	7: 29,069,028	K2839E	possibly damaging	Het
Sept5	T	C	16: 18,623,368	K268R	probably benign	Het
Serpinb6b	T	A	13: 32,977,659	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,762,385	V214M	probably damaging	Het
Smarca2	T	C	19: 26,623,936	M18T	probably damaging	Het
Smarca2	C	A	19: 26,682,046	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,347,900	R46S	possibly damaging	Het
Spa17	A	C	9: 37,611,977	F5V	probably damaging	Het
Spag17	A	G	3: 100,027,244	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,395,551		probably benign	Het
Tlr1	A	T	5: 64,926,292	V314D	probably damaging	Het
Trappc8	A	T	18: 20,836,900	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,760,947	*691Q	probably null	Het
Vav1	A	T	17: 57,303,079	K420*	probably null	Het
Vmn1r174	C	G	7: 23,754,137	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,386,804	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,166	T637A	probably damaging	Het
Zbtb7a	A	G	10: 81,144,797	E275G	probably damaging	Het
Zfp280b	A	G	10: 76,039,462		probably null	Het
Zfp763	A	G	17: 33,019,533	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,378,529	W161R	probably benign	Het

Other mutations in Neurl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Neurl4	APN	11	69904587	missense	probably damaging	1.00
IGL00516:Neurl4	APN	11	69910393	missense	probably damaging	0.98
IGL01409:Neurl4	APN	11	69907099	missense	probably damaging	1.00
IGL01951:Neurl4	APN	11	69909623	missense	probably damaging	1.00
IGL02056:Neurl4	APN	11	69905790	missense	probably damaging	1.00
IGL02206:Neurl4	APN	11	69910340	missense	probably damaging	1.00
IGL02557:Neurl4	APN	11	69906335	missense	probably damaging	1.00
IGL02878:Neurl4	APN	11	69906831	missense	probably damaging	1.00
P0022:Neurl4	UTSW	11	69909065	missense	possibly damaging	0.86
PIT4377001:Neurl4	UTSW	11	69910406	missense	probably benign	0.41
R0388:Neurl4	UTSW	11	69911733	splice site	probably benign
R0421:Neurl4	UTSW	11	69908534	missense	probably damaging	1.00
R0449:Neurl4	UTSW	11	69905567	missense	probably damaging	0.99
R1174:Neurl4	UTSW	11	69903721	critical splice donor site	probably null
R1345:Neurl4	UTSW	11	69903876	missense	probably benign	0.21
R1536:Neurl4	UTSW	11	69903426	nonsense	probably null
R1642:Neurl4	UTSW	11	69903659	missense	probably benign	0.03
R1857:Neurl4	UTSW	11	69905535	missense	probably damaging	1.00
R1935:Neurl4	UTSW	11	69907133	missense	probably damaging	1.00
R1936:Neurl4	UTSW	11	69907133	missense	probably damaging	1.00
R1967:Neurl4	UTSW	11	69903210	missense	possibly damaging	0.90
R1973:Neurl4	UTSW	11	69909292	missense	probably benign
R2046:Neurl4	UTSW	11	69908697	missense	probably damaging	1.00
R2165:Neurl4	UTSW	11	69903221	missense	probably benign
R2393:Neurl4	UTSW	11	69907074	missense	probably damaging	1.00
R3810:Neurl4	UTSW	11	69904033	missense	probably damaging	1.00
R4299:Neurl4	UTSW	11	69909061	missense	probably damaging	1.00
R4749:Neurl4	UTSW	11	69911068	missense	probably benign	0.00
R4898:Neurl4	UTSW	11	69903171	missense	probably damaging	0.99
R4968:Neurl4	UTSW	11	69907308	missense	probably damaging	1.00
R4969:Neurl4	UTSW	11	69911087	missense	probably damaging	1.00
R6655:Neurl4	UTSW	11	69910916	critical splice donor site	probably null
R6791:Neurl4	UTSW	11	69908510	missense	probably damaging	1.00
R7029:Neurl4	UTSW	11	69910736	missense	probably damaging	0.99
R7216:Neurl4	UTSW	11	69910262	missense	probably damaging	1.00
R7361:Neurl4	UTSW	11	69912079	missense	probably benign	0.01
R7367:Neurl4	UTSW	11	69908582	missense	probably damaging	1.00
R7804:Neurl4	UTSW	11	69905874	missense	probably benign	0.00
R7871:Neurl4	UTSW	11	69903186	missense	probably benign
R8092:Neurl4	UTSW	11	69911065	missense	probably benign
R8121:Neurl4	UTSW	11	69908230	splice site	probably null
R8131:Neurl4	UTSW	11	69909241	missense	probably benign	0.12
R8289:Neurl4	UTSW	11	69909380	critical splice donor site	probably null
R8354:Neurl4	UTSW	11	69909236	missense	probably damaging	0.97
R8494:Neurl4	UTSW	11	69911045	missense	probably benign	0.02
R8529:Neurl4	UTSW	11	69908787	missense	probably damaging	1.00
X0025:Neurl4	UTSW	11	69906801	missense	probably damaging	1.00
Z1177:Neurl4	UTSW	11	69904090	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TGAGAGCTGAGTCCTCACTTG -3'
(R):5'- CCAGGTTGTGCCCATATTCATC -3'

Sequencing Primer
(F):5'- ACTTGCTGTGTCCCCAGTG -3'
(R):5'- TGCCCATATTCATCTAGGATGG -3'

Posted On

2016-10-05