Mutagenetix > Incidental Mutation

Incidental Mutation 'R2359:Neurl1b'

247094

Institutional Source

Beutler Lab

Gene Symbol

Neurl1b

Ensembl Gene

ENSMUSG00000034413

Gene Name

neuralized E3 ubiquitin protein ligase 1B

Synonyms

EG240055, Neur2, C230078M08Rik

MMRRC Submission

040341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2359 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

26633833-26665295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26660569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 299 (F299L)

Ref Sequence

ENSEMBL: ENSMUSP00000138417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053020] [ENSMUST00000182897] [ENSMUST00000183077]

AlphaFold

Q0MW30

Predicted Effect

probably benign
Transcript: ENSMUST00000053020
AA Change: F481L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000051481
Gene: ENSMUSG00000034413
AA Change: F481L

Domain	Start	End	E-Value	Type
NEUZ	36	159	5.7e-41	SMART
Blast:NEUZ	161	192	1e-12	BLAST
Blast:NEUZ	219	245	1e-8	BLAST
NEUZ	268	390	7.66e-24	SMART
low complexity region	436	449	N/A	INTRINSIC
low complexity region	457	486	N/A	INTRINSIC
RING	494	533	2.38e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182897
AA Change: F299L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138417
Gene: ENSMUSG00000034413
AA Change: F299L

Domain	Start	End	E-Value	Type
Blast:NEUZ	37	63	5e-9	BLAST
Pfam:Neuralized	88	156	2.8e-14	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	304	N/A	INTRINSIC
RING	312	351	2.38e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183077
AA Change: F250L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000138178
Gene: ENSMUSG00000034413
AA Change: F250L

Domain	Start	End	E-Value	Type
NEUZ	36	159	5.7e-41	SMART
Blast:NEUZ	161	225	2e-14	BLAST
low complexity region	226	255	N/A	INTRINSIC
RING	263	302	2.38e-2	SMART

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,133,984 (GRCm39)	E484G	possibly damaging	Het
Akr1c20	C	T	13: 4,573,276 (GRCm39)	G13D	probably damaging	Het
Alkbh3	T	C	2: 93,838,458 (GRCm39)	T38A	probably benign	Het
Anxa9	A	C	3: 95,210,062 (GRCm39)	L99R	probably damaging	Het
Arfgef2	A	T	2: 166,702,539 (GRCm39)	Y826F	probably damaging	Het
Arid2	G	T	15: 96,259,759 (GRCm39)	L306F	probably damaging	Het
Ccdc141	C	T	2: 77,000,746 (GRCm39)	V29M	probably damaging	Het
Cd55b	A	G	1: 130,345,858 (GRCm39)	S187P	probably damaging	Het
Cep63	A	C	9: 102,471,763 (GRCm39)	L526V	possibly damaging	Het
Chtf8	G	T	8: 107,612,048 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,631,003 (GRCm39)	S286C	probably damaging	Het
Cpsf1	A	G	15: 76,481,873 (GRCm39)	V1080A	probably benign	Het
Csf2rb2	C	T	15: 78,176,976 (GRCm39)	V165I	probably benign	Het
Cyp2c40	A	T	19: 39,766,398 (GRCm39)	V399E	probably damaging	Het
Dnmt3a	T	C	12: 3,951,599 (GRCm39)	S659P	probably damaging	Het
Efcab3	T	C	11: 104,630,106 (GRCm39)	S967P	possibly damaging	Het
Efr3b	G	A	12: 4,030,136 (GRCm39)		probably benign	Het
Epha8	A	G	4: 136,673,343 (GRCm39)	I147T	probably damaging	Het
Fbxo48	G	A	11: 16,903,602 (GRCm39)	W76*	probably null	Het
Ggt6	A	T	11: 72,328,377 (GRCm39)	L254F	possibly damaging	Het
Gm4204	T	A	1: 135,159,927 (GRCm39)		noncoding transcript	Het
Golph3l	A	G	3: 95,499,275 (GRCm39)		probably null	Het
Gtf2h3	A	G	5: 124,728,939 (GRCm39)	K166R	probably damaging	Het
Hsp90aa1	A	G	12: 110,661,003 (GRCm39)		probably null	Het
Hyi	A	G	4: 118,217,538 (GRCm39)	R79G	probably benign	Het
Igbp1b	G	A	6: 138,634,713 (GRCm39)	P244S	probably damaging	Het
Ipo8	G	A	6: 148,717,975 (GRCm39)		probably benign	Het
Larp4b	C	A	13: 9,208,199 (GRCm39)	T391K	probably damaging	Het
Lrba	T	C	3: 86,256,057 (GRCm39)	V1133A	probably benign	Het
Med13	C	T	11: 86,181,861 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,156,379 (GRCm39)		probably benign	Het
Nosip	G	A	7: 44,723,450 (GRCm39)	A39T	possibly damaging	Het
Nsd1	A	G	13: 55,361,524 (GRCm39)	D164G	possibly damaging	Het
Ntn1	G	A	11: 68,276,438 (GRCm39)	T170M	probably damaging	Het
Polrmt	A	T	10: 79,572,396 (GRCm39)	L1079Q	probably damaging	Het
Prxl2c	A	T	13: 64,460,465 (GRCm39)	C12S	probably benign	Het
Rab30	A	G	7: 92,485,005 (GRCm39)	D129G	possibly damaging	Het
Rwdd2b	C	T	16: 87,233,809 (GRCm39)	S97N	probably benign	Het
Slitrk3	T	G	3: 72,956,678 (GRCm39)	D698A	possibly damaging	Het
Smarcd2	T	C	11: 106,157,990 (GRCm39)	M93V	probably benign	Het
Tmprss4	A	G	9: 45,097,130 (GRCm39)	V45A	probably benign	Het
Vmn1r22	A	T	6: 57,877,974 (GRCm39)	M1K	probably null	Het
Vps13a	A	G	19: 16,630,043 (GRCm39)		probably benign	Het

Other mutations in Neurl1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Neurl1b	APN	17	26,651,152 (GRCm39)	missense	probably damaging	0.99
R0530:Neurl1b	UTSW	17	26,660,519 (GRCm39)	splice site	probably null
R1819:Neurl1b	UTSW	17	26,657,674 (GRCm39)	missense	probably benign	0.01
R3720:Neurl1b	UTSW	17	26,633,949 (GRCm39)	missense	probably damaging	1.00
R4574:Neurl1b	UTSW	17	26,650,860 (GRCm39)	missense	probably benign	0.19
R7508:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7509:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7642:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7654:Neurl1b	UTSW	17	26,657,671 (GRCm39)	missense	probably benign	0.00
R7669:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7670:Neurl1b	UTSW	17	26,657,720 (GRCm39)	missense	probably benign	0.13
R7722:Neurl1b	UTSW	17	26,660,132 (GRCm39)	missense	probably benign
R8069:Neurl1b	UTSW	17	26,651,201 (GRCm39)	missense	probably damaging	1.00
R8343:Neurl1b	UTSW	17	26,650,965 (GRCm39)	missense	probably damaging	1.00
R8711:Neurl1b	UTSW	17	26,660,747 (GRCm39)	missense	probably damaging	1.00
R8770:Neurl1b	UTSW	17	26,650,887 (GRCm39)	missense	probably damaging	1.00
R9176:Neurl1b	UTSW	17	26,660,055 (GRCm39)	missense	possibly damaging	0.94
R9405:Neurl1b	UTSW	17	26,658,265 (GRCm39)	missense	probably benign	0.19
R9406:Neurl1b	UTSW	17	26,657,820 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTTGTGCTTTGTGAGACAGC -3'
(R):5'- ACAGCTACGGCCTGTAGATC -3'

Sequencing Primer
(F):5'- TGCTTTGTGAGACAGCACTATC -3'
(R):5'- ATAACATCCTTGATGGGCCG -3'

Posted On

2014-10-30