Mutagenetix > Incidental Mutation

Incidental Mutation 'R1935:Neurl4'

215938

Institutional Source

Beutler Lab

Gene Symbol

Neurl4

Ensembl Gene

ENSMUSG00000047284

Gene Name

neuralized E3 ubiquitin protein ligase 4

Synonyms

0610025P10Rik

MMRRC Submission

039953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1935 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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: R718C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: R718C

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 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

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

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

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: ENSMUST00000177476
AA Change: R740C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: R740C

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: ENSMUST00000175742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177160

Meta Mutation Damage Score

0.8983

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.6%

Validation Efficiency

95% (95/100)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Abcg8	C	T	17: 85,002,417 (GRCm39)		probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	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
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atg2a	A	G	19: 6,302,566 (GRCm39)	Y963C	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atrn	T	C	2: 130,799,955 (GRCm39)	V444A	probably damaging	Het
Avpr1a	G	A	10: 122,285,695 (GRCm39)		probably null	Het
Best3	A	C	10: 116,860,291 (GRCm39)	Q517P	probably benign	Het
C3	A	G	17: 57,525,829 (GRCm39)	L851P	probably damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Carns1	T	C	19: 4,215,473 (GRCm39)	E903G	probably damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Ciao1	A	G	2: 127,088,380 (GRCm39)	S148P	possibly damaging	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cnot2	G	C	10: 116,334,320 (GRCm39)	P274R	possibly damaging	Het
Cops7a	G	A	6: 124,939,359 (GRCm39)	R97*	probably null	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Ddrgk1	G	T	2: 130,505,480 (GRCm39)		probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dnah8	G	A	17: 30,945,870 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,854,479 (GRCm39)	E47G	unknown	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
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
H2-Q1	A	T	17: 35,542,469 (GRCm39)	M305L	probably benign	Het
Hoxa10	C	A	6: 52,211,350 (GRCm39)	G189C	possibly damaging	Het
Kbtbd4	T	C	2: 90,737,895 (GRCm39)	V215A	probably damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Med19	A	G	2: 84,516,002 (GRCm39)	H177R	possibly damaging	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Mpl	A	G	4: 118,312,936 (GRCm39)	M132T	probably benign	Het
Mtcl1	G	T	17: 66,686,409 (GRCm39)	H480Q	probably benign	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or14j7	T	A	17: 38,234,993 (GRCm39)	C179S	probably damaging	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or4c11	A	C	2: 88,695,524 (GRCm39)	M192L	probably benign	Het
Or6c214	A	G	10: 129,590,584 (GRCm39)	V245A	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
Pom121	G	A	5: 135,412,740 (GRCm39)	R481C	unknown	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	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
Rtl1	A	G	12: 109,558,354 (GRCm39)	S1162P	probably benign	Het
Samd9l	G	T	6: 3,376,269 (GRCm39)	Q331K	probably benign	Het
Sipa1l1	T	C	12: 82,419,208 (GRCm39)	Y629H	probably damaging	Het
Slc12a2	A	T	18: 58,037,425 (GRCm39)	I512L	possibly damaging	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Snw1	T	A	12: 87,506,247 (GRCm39)	I218F	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
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Thra	T	A	11: 98,653,899 (GRCm39)		probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmem50a	A	G	4: 134,630,953 (GRCm39)		probably benign	Het
Tmem63b	A	G	17: 45,989,887 (GRCm39)		probably null	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
Trip12	T	C	1: 84,771,822 (GRCm39)	S109G	possibly damaging	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Tubgcp4	A	T	2: 121,009,147 (GRCm39)		probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Zfp408	A	T	2: 91,480,093 (GRCm39)	M1K	probably null	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCTTGGGAATCCTTAAAG -3'
(R):5'- TGACCAACGATCTACCATCTTC -3'

Sequencing Primer
(F):5'- GGCCTTGGGAATCCTTAAAGAAACC -3'
(R):5'- ACGATCTACCATCTTCTGAATGAC -3'

Posted On

2014-07-14