Mutagenetix > Incidental Mutation

Incidental Mutation 'R1555:Neurl3'

170203

Institutional Source

Beutler Lab

Gene Symbol

Neurl3

Ensembl Gene

ENSMUSG00000047180

Gene Name

neuralized E3 ubiquitin protein ligase 3

Synonyms

Lincr, 2010300P06Rik

MMRRC Submission

039594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36303683-36313755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36305613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 198 (V198A)

Ref Sequence

ENSEMBL: ENSMUSP00000055437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056946] [ENSMUST00000188666]

AlphaFold

Q8CJC5

Predicted Effect

probably benign
Transcript: ENSMUST00000056946
AA Change: V198A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055437
Gene: ENSMUSG00000047180
AA Change: V198A

Domain	Start	End	E-Value	Type
Pfam:Neuralized	19	85	8.3e-25	PFAM
RING	197	235	7.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188666

SMART Domains

Protein: ENSMUSP00000139665
Gene: ENSMUSG00000047180

Domain	Start	End	E-Value	Type
NEUZ	15	138	6.4e-30	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,865,727 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,594,776 (GRCm39)	T358S	probably benign	Het
Ate1	A	T	7: 130,110,821 (GRCm39)	F169I	probably benign	Het
Cdkl4	T	A	17: 80,851,043 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,139,050 (GRCm39)		probably null	Het
Col6a4	C	T	9: 105,878,085 (GRCm39)	R1964Q	possibly damaging	Het
Dcakd	C	T	11: 102,891,039 (GRCm39)	V17I	probably damaging	Het
Dcdc5	T	G	2: 106,214,480 (GRCm39)		noncoding transcript	Het
Erc2	T	A	14: 27,733,622 (GRCm39)	D557E	probably damaging	Het
Grid2	A	T	6: 64,406,668 (GRCm39)	D676V	possibly damaging	Het
Hebp2	G	T	10: 18,420,163 (GRCm39)	T90K	possibly damaging	Het
Igkv10-96	C	T	6: 68,609,365 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,844,893 (GRCm39)	N248K	probably damaging	Het
Myo5b	A	T	18: 74,702,853 (GRCm39)	I15F	probably damaging	Het
Notch2	C	A	3: 98,038,656 (GRCm39)	N1266K	possibly damaging	Het
Nup107	A	G	10: 117,587,395 (GRCm39)		probably benign	Het
Or52e8b	T	C	7: 104,673,729 (GRCm39)	I153V	probably benign	Het
Or6d14	A	T	6: 116,533,787 (GRCm39)	I134F	probably damaging	Het
Phf3	G	T	1: 30,844,958 (GRCm39)	H1334N	possibly damaging	Het
Phyhd1	T	A	2: 30,164,718 (GRCm39)	I100N	probably damaging	Het
Rad21l	T	A	2: 151,500,348 (GRCm39)	T224S	probably benign	Het
Rxra	C	T	2: 27,638,690 (GRCm39)	A231V	probably benign	Het
Sac3d1	T	C	19: 6,168,435 (GRCm39)	D61G	probably damaging	Het
Sbf1	A	G	15: 89,189,279 (GRCm39)	Y481H	probably damaging	Het
Spg11	T	C	2: 121,927,858 (GRCm39)	E642G	probably damaging	Het
Spta1	A	G	1: 174,006,315 (GRCm39)	Y159C	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Tedc1	G	T	12: 113,120,117 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,782 (GRCm39)	D162E	probably damaging	Het
Tmprss11e	T	A	5: 86,863,447 (GRCm39)	Q206L	probably damaging	Het
Tpra1	A	G	6: 88,887,185 (GRCm39)	N175S	probably damaging	Het
Ttll10	T	C	4: 156,119,596 (GRCm39)	E601G	probably benign	Het
Ttll6	G	T	11: 96,036,408 (GRCm39)	D346Y	probably damaging	Het
U2surp	A	G	9: 95,348,630 (GRCm39)	V874A	probably damaging	Het
Vwa5b1	T	C	4: 138,332,788 (GRCm39)	K258R	probably benign	Het
Xkr6	A	G	14: 64,056,374 (GRCm39)	Y95C	unknown	Het
Zfp180	T	C	7: 23,800,999 (GRCm39)		probably benign	Het
Zfp90	A	G	8: 107,150,727 (GRCm39)	T147A	probably benign	Het

Other mutations in Neurl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1615:Neurl3	UTSW	1	36,308,470 (GRCm39)	missense	possibly damaging	0.95
R5055:Neurl3	UTSW	1	36,312,463 (GRCm39)	start gained	probably benign
R5242:Neurl3	UTSW	1	36,308,501 (GRCm39)	nonsense	probably null
R5444:Neurl3	UTSW	1	36,308,571 (GRCm39)	missense	probably damaging	1.00
R5698:Neurl3	UTSW	1	36,305,587 (GRCm39)	missense	possibly damaging	0.67
R6823:Neurl3	UTSW	1	36,307,785 (GRCm39)	nonsense	probably null
R7088:Neurl3	UTSW	1	36,308,302 (GRCm39)	missense	possibly damaging	0.67
R8184:Neurl3	UTSW	1	36,308,662 (GRCm39)	missense	probably damaging	0.99
R9686:Neurl3	UTSW	1	36,305,539 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCCCATCTGCCCAAGAAGTCATC -3'
(R):5'- CCGGGAAGCAAAAGCCTAGATTCAG -3'

Sequencing Primer
(F):5'- GAAGTCATCTTCTCAGGAGCC -3'
(R):5'- AAGCCTAGATTCAGGGCTGTG -3'

Posted On

2014-04-13