Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Neurl4'

235445

Institutional Source

Beutler Lab

Gene Symbol

Neurl4

Ensembl Gene

ENSMUSG00000047284

Gene Name

neuralized E3 ubiquitin protein ligase 4

Synonyms

0610025P10Rik

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69901072-69913820 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69903221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 168 (T168A)

Ref Sequence

ENSEMBL: ENSMUSP00000135185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018714] [ENSMUST00000061837] [ENSMUST00000100969] [ENSMUST00000102580] [ENSMUST00000108617] [ENSMUST00000108621] [ENSMUST00000128046] [ENSMUST00000129234] [ENSMUST00000129475] [ENSMUST00000133203] [ENSMUST00000177476] [ENSMUST00000177138] [ENSMUST00000144431]

AlphaFold

Q5NCX5

Predicted Effect

probably benign
Transcript: ENSMUST00000018714

SMART Domains

Protein: ENSMUSP00000018714
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	150	277	1.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061837
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: T168A

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: ENSMUST00000100969

SMART Domains

Protein: ENSMUSP00000098529
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	150	272	5.7e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102580

SMART Domains

Protein: ENSMUSP00000099640
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	153	270	6.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108617
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: T168A

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: ENSMUST00000108621

SMART Domains

Protein: ENSMUSP00000104261
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	150	277	1.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128046

SMART Domains

Protein: ENSMUSP00000137547
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
Pfam:IPP-2	1	77	1.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129234

SMART Domains

Protein: ENSMUSP00000136835
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	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: ENSMUST00000133203

SMART Domains

Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284

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: ENSMUST00000137122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142121

Predicted Effect

probably benign
Transcript: ENSMUST00000177476
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: T168A

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

probably benign
Transcript: ENSMUST00000177138
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: T168A

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: ENSMUST00000153041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175742

Predicted Effect

probably benign
Transcript: ENSMUST00000144431

SMART Domains

Protein: ENSMUSP00000135926
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,112,399	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,419,338	L403R	probably damaging	Het
AF067061	A	T	13: 120,264,097	Q99L	probably damaging	Het
Alox12	A	T	11: 70,242,572		probably null	Het
Ankib1	A	T	5: 3,713,210	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,721,839	Y1268D	probably damaging	Het
Bik	A	G	15: 83,541,423	M42V	probably benign	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Bub1	T	C	2: 127,801,281	I1048V	probably benign	Het
Cad	A	G	5: 31,062,220	N621S	probably damaging	Het
Camkv	C	A	9: 107,945,600	N69K	possibly damaging	Het
Ccdc110	T	C	8: 45,942,839	M589T	probably benign	Het
Ccdc154	T	A	17: 25,170,890	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,977,654	L252P	probably damaging	Het
Cdh1	T	C	8: 106,664,321	C690R	probably damaging	Het
Cfap157	T	G	2: 32,778,163		probably null	Het
Cux2	A	G	5: 121,887,477	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 107,068,683	P21S	probably damaging	Het
Cyp51	T	G	5: 4,086,594	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,097,992		probably benign	Het
Ephb4	A	G	5: 137,354,426	I90M	probably benign	Het
Fam13c	A	G	10: 70,542,693	N269S	probably damaging	Het
Fam83c	T	A	2: 155,831,524	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,303,716	F1166L	probably benign	Het
Fem1a	A	G	17: 56,257,686	N260D	probably benign	Het
Fnbp4	T	A	2: 90,767,399		probably null	Het
Fut9	T	A	4: 25,619,733	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734	*360L	probably null	Het
Gm11639	G	A	11: 104,751,862	V1104I	possibly damaging	Het
Gm3727	T	A	14: 7,264,625	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Haspin	A	C	11: 73,136,630	N544K	probably damaging	Het
Havcr1	A	G	11: 46,778,552	N286S	probably benign	Het
Lrp6	A	C	6: 134,459,283	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,979,577	H294P	possibly damaging	Het
Mon2	A	C	10: 123,042,364		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgprb1	T	C	7: 48,447,322	I281V	probably benign	Het
Muc4	A	G	16: 32,750,476	E118G	probably damaging	Het
Nefh	T	C	11: 4,943,872	D394G	probably damaging	Het
Olfr347	T	A	2: 36,734,701	C127S	probably damaging	Het
Olfr642	T	C	7: 104,049,638	T239A	probably benign	Het
Olfr982	A	G	9: 40,074,915	N207D	possibly damaging	Het
Olfr987	A	T	2: 85,331,102	N265K	probably benign	Het
Oxsr1	A	C	9: 119,294,432	M92R	probably damaging	Het
Pde8a	T	C	7: 81,295,768		probably null	Het
Pex5l	T	A	3: 32,953,132		probably null	Het
Pik3r4	T	A	9: 105,672,785	M1025K	probably benign	Het
Plch1	C	T	3: 63,698,482	E1325K	probably benign	Het
Plin2	A	T	4: 86,668,432	V54E	probably damaging	Het
Pqlc3	G	A	12: 16,989,839	L192F	probably damaging	Het
Prss47	A	T	13: 65,045,073	I298N	probably damaging	Het
Prune2	A	G	19: 17,120,182	R1017G	probably benign	Het
Psg19	T	A	7: 18,796,986	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rrnad1	A	T	3: 87,927,053		probably null	Het
Serpinb1a	T	C	13: 32,850,414		probably benign	Het
Sh3pxd2a	A	T	19: 47,278,355	V265E	probably damaging	Het
Slc22a17	A	T	14: 54,908,825	Y337*	probably null	Het
Slc25a27	A	G	17: 43,657,772	V138A	probably benign	Het
Slc4a2	A	G	5: 24,431,316	Y220C	probably damaging	Het
Stab1	A	T	14: 31,168,435	S20T	probably benign	Het
Thsd1	G	T	8: 22,238,522		probably benign	Het
Tmem204	G	A	17: 25,080,592		probably benign	Het
Tom1l1	A	G	11: 90,649,895		probably benign	Het
Toporsl	T	A	4: 52,612,072	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,081,291	K852E	unknown	Het
Wdpcp	T	G	11: 21,691,884	L174R	probably damaging	Het
Zbbx	G	A	3: 75,112,107	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp600	A	T	4: 146,196,918	R719*	probably null	Het
Zfp697	C	A	3: 98,428,014	A365E	unknown	Het
Zfp957	A	C	14: 79,213,613	S249A	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
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
R5503:Neurl4	UTSW	11	69906368	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
R8850:Neurl4	UTSW	11	69903962	unclassified	probably benign
R8992:Neurl4	UTSW	11	69908132	missense	possibly damaging	0.69
R9334:Neurl4	UTSW	11	69905966	missense	probably damaging	1.00
R9509:Neurl4	UTSW	11	69902145	nonsense	probably null
R9705:Neurl4	UTSW	11	69908853	missense	probably damaging	0.97
R9707:Neurl4	UTSW	11	69908853	missense	probably damaging	0.97
R9746:Neurl4	UTSW	11	69907475	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'- ATCCCAGTGTGTTGGACTTCC -3'
(R):5'- ACCTTCATCCACAGAGGTCC -3'

Sequencing Primer
(F):5'- TTGGACTTCCCGAGCAGTG -3'
(R):5'- TGTTCCAACAGGGCTGAATC -3'

Posted On

2014-10-01