Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69792545-69804648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69797194 bp (GRCm39)

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]

AlphaFold

Q5NCX5

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

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175761

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: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Abca6	A	G	11: 110,109,083 (GRCm39)	S696P	probably damaging	Het
Abca9	G	A	11: 110,032,436 (GRCm39)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,439,312 (GRCm39)	R1161G	probably benign	Het
Amy1	T	C	3: 113,349,709 (GRCm39)	D487G	probably benign	Het
Arap2	G	A	5: 62,787,529 (GRCm39)	A1409V	probably damaging	Het
B4galt6	C	A	18: 20,878,409 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,014,480 (GRCm39)	G382D	probably damaging	Het
Camk2a	A	G	18: 61,111,072 (GRCm39)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,620 (GRCm39)	Y492C	probably damaging	Het
Cert1	C	T	13: 96,679,747 (GRCm39)	R26C	possibly damaging	Het
Col18a1	C	T	10: 76,907,454 (GRCm39)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,874,762 (GRCm39)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,914,125 (GRCm39)	L27F	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dapk1	T	C	13: 60,873,126 (GRCm39)	F343L	probably benign	Het
Dgat1	A	T	15: 76,386,394 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,844,186 (GRCm39)		probably null	Het
Dsg2	T	A	18: 20,713,708 (GRCm39)	Y226*	probably null	Het
Epg5	T	A	18: 77,994,422 (GRCm39)	M351K	possibly damaging	Het
F13b	A	G	1: 139,450,281 (GRCm39)	T648A	probably benign	Het
Fgf17	T	C	14: 70,874,408 (GRCm39)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,246,124 (GRCm39)	P435S	probably benign	Het
Gfm1	G	A	3: 67,361,060 (GRCm39)		probably null	Het
Gigyf1	T	C	5: 137,521,729 (GRCm39)		probably benign	Het
Gm12830	A	T	4: 114,678,936 (GRCm39)	T6S	unknown	Het
Gm6465	A	T	5: 11,898,150 (GRCm39)	N88I	probably damaging	Het
Gpr18	C	T	14: 122,149,159 (GRCm39)	V289I	probably damaging	Het
Ipp	G	T	4: 116,395,135 (GRCm39)	E557*	probably null	Het
Klhl12	T	A	1: 134,413,653 (GRCm39)		probably null	Het
Klhl38	A	G	15: 58,185,745 (GRCm39)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,511,802 (GRCm39)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,957,939 (GRCm39)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,370,864 (GRCm39)	K118E	probably benign	Het
Marf1	A	C	16: 13,970,095 (GRCm39)	L208R	probably damaging	Het
Misp	G	A	10: 79,662,552 (GRCm39)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,533,390 (GRCm39)	M133K	probably damaging	Het
Mon2	A	T	10: 122,868,550 (GRCm39)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,064,275 (GRCm39)	I77V	probably benign	Het
Napa	C	A	7: 15,849,549 (GRCm39)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,323,503 (GRCm39)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,892,933 (GRCm39)	S236R	possibly damaging	Het
Nmral1	G	A	16: 4,533,493 (GRCm39)	P94L	probably benign	Het
Notch3	A	T	17: 32,366,029 (GRCm39)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,393,752 (GRCm39)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,323,883 (GRCm39)	D143G	probably benign	Het
Oplah	A	G	15: 76,189,646 (GRCm39)		probably null	Het
Or13a17	A	C	7: 140,271,309 (GRCm39)	M164L	probably benign	Het
Or2ak4	T	A	11: 58,649,154 (GRCm39)	V221E	probably damaging	Het
Or6b2b	C	A	1: 92,418,918 (GRCm39)	K186N	probably benign	Het
Or7d10	A	G	9: 19,831,675 (GRCm39)	T57A	probably benign	Het
Or8b48	T	C	9: 38,493,368 (GRCm39)	V265A	probably benign	Het
Or8g19	A	G	9: 39,055,780 (GRCm39)	N128S	probably benign	Het
Phb2	T	A	6: 124,689,985 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,816,957 (GRCm39)	I108V	probably benign	Het
Plpp6	T	A	19: 28,942,146 (GRCm39)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,088,156 (GRCm39)	G189E	probably damaging	Het
Pramel17	A	T	4: 101,692,999 (GRCm39)	Y334N	probably benign	Het
Ptprn	C	T	1: 75,228,519 (GRCm39)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,524,189 (GRCm39)		probably null	Het
Rai1	G	A	11: 60,077,279 (GRCm39)	V448I	probably benign	Het
Rbm20	T	A	19: 53,839,785 (GRCm39)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,279,314 (GRCm39)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,505 (GRCm39)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,543,561 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,783,879 (GRCm39)	D133E	probably benign	Het
Ryr1	T	C	7: 28,768,453 (GRCm39)	K2839E	possibly damaging	Het
Septin5	T	C	16: 18,442,118 (GRCm39)	K268R	probably benign	Het
Serpinb6b	T	A	13: 33,161,642 (GRCm39)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,582,747 (GRCm39)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,601,336 (GRCm39)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,659,446 (GRCm39)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,232,101 (GRCm39)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,523,273 (GRCm39)	F5V	probably damaging	Het
Spag17	A	G	3: 99,934,560 (GRCm39)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,083,635 (GRCm39)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,969,957 (GRCm39)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,800,028 (GRCm39)	*691Q	probably null	Het
Vav1	A	T	17: 57,610,079 (GRCm39)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,453,562 (GRCm39)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,605,778 (GRCm39)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,312 (GRCm39)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 80,980,631 (GRCm39)	E275G	probably damaging	Het
Zfp280b	A	G	10: 75,875,296 (GRCm39)		probably null	Het
Zfp763	A	G	17: 33,238,507 (GRCm39)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,381,528 (GRCm39)	W161R	probably benign	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
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'- TGAGAGCTGAGTCCTCACTTG -3'
(R):5'- CCAGGTTGTGCCCATATTCATC -3'

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

Posted On

2016-10-05