Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Neurl1b'

664380

Institutional Source

Beutler Lab

Gene Symbol

Neurl1b

Ensembl Gene

ENSMUSG00000034413

Gene Name

neuralized E3 ubiquitin protein ligase 1B

Synonyms

EG240055, Neur2, C230078M08Rik

MMRRC Submission

068625-MU

Accession Numbers

Essential gene?

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

Stock #

R8770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26633833-26665295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26650887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000051481 (fasta)

Gene Model

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

AlphaFold

Q0MW30

Predicted Effect

probably damaging
Transcript: ENSMUST00000053020
AA Change: D53G

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

SMART Domains

Protein: ENSMUSP00000051481
Gene: ENSMUSG00000034413
AA Change: D53G

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

SMART Domains

Protein: ENSMUSP00000138417
Gene: ENSMUSG00000034413

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 damaging
Transcript: ENSMUST00000183077
AA Change: D53G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138178
Gene: ENSMUSG00000034413
AA Change: D53G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,104,199 (GRCm39)		probably null	Het
Aox1	A	T	1: 58,378,763 (GRCm39)	K1004M	probably benign	Het
Atn1	C	T	6: 124,722,601 (GRCm39)		probably null	Het
Atp8b4	T	C	2: 126,184,915 (GRCm39)	Y916C	probably damaging	Het
Bicd1	T	C	6: 149,420,448 (GRCm39)	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,884,684 (GRCm39)	D223E	probably benign	Het
Bpifc	T	G	10: 85,801,129 (GRCm39)	R406S	probably damaging	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,006,926 (GRCm39)	I607N	possibly damaging	Het
Cdyl2	T	C	8: 117,321,822 (GRCm39)	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,363,117 (GRCm39)	Q163R	probably benign	Het
Cntn3	T	A	6: 102,254,277 (GRCm39)	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,952,208 (GRCm39)	V358A	probably damaging	Het
Dchs1	G	A	7: 105,420,945 (GRCm39)	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,311,298 (GRCm39)	T1808A	probably benign	Het
Dnah10	A	G	5: 124,852,410 (GRCm39)	I1880V	possibly damaging	Het
Dnai3	T	C	3: 145,752,298 (GRCm39)	T793A	probably benign	Het
Dscam	T	C	16: 96,456,106 (GRCm39)	E1274G	possibly damaging	Het
Dtwd1	A	G	2: 125,996,727 (GRCm39)	T71A	probably damaging	Het
Dusp4	T	A	8: 35,274,938 (GRCm39)	M19K	probably benign	Het
Fbxo39	T	C	11: 72,209,285 (GRCm39)	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,046,596 (GRCm39)	C455S	probably benign	Het
Fcmr	T	A	1: 130,803,799 (GRCm39)	V201E	probably benign	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gpr156	A	G	16: 37,824,974 (GRCm39)	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,443,951 (GRCm39)	V73D	probably damaging	Het
Hrob	A	G	11: 102,145,976 (GRCm39)	N84S	probably benign	Het
Laptm4b	T	C	15: 34,258,843 (GRCm39)	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Myo6	A	G	9: 80,171,481 (GRCm39)	E494G	unknown	Het
Myo7b	C	T	18: 32,114,124 (GRCm39)	D1076N	probably benign	Het
Noc4l	A	G	5: 110,796,758 (GRCm39)	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,025,850 (GRCm39)	F157L	probably damaging	Het
Ogdh	T	C	11: 6,305,336 (GRCm39)	Y959H	probably damaging	Het
Or13c7d	T	G	4: 43,770,813 (GRCm39)	N66T	probably damaging	Het
Or4a73	A	G	2: 89,421,171 (GRCm39)	M96T	probably benign	Het
Pik3ap1	A	G	19: 41,316,599 (GRCm39)	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,404,853 (GRCm39)	Y4H	unknown	Het
Rad21	A	G	15: 51,831,749 (GRCm39)	I444T	probably benign	Het
Recql5	T	C	11: 115,787,943 (GRCm39)	I459V	probably benign	Het
Scaf1	T	C	7: 44,656,129 (GRCm39)	T917A	unknown	Het
Sdc4	C	T	2: 164,270,822 (GRCm39)	V146I	probably damaging	Het
Serpina6	T	C	12: 103,620,198 (GRCm39)	S184G	probably benign	Het
Shkbp1	C	A	7: 27,051,311 (GRCm39)	R218S	possibly damaging	Het
Slc17a3	A	G	13: 24,039,607 (GRCm39)	D255G		Het
Slc7a2	T	G	8: 41,352,267 (GRCm39)	V110G	probably damaging	Het
Slf1	A	C	13: 77,194,766 (GRCm39)	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,029,718 (GRCm39)	V102A	probably benign	Het
Sobp	T	C	10: 43,036,788 (GRCm39)	K50R	probably damaging	Het
Spink10	A	T	18: 62,786,532 (GRCm39)	R47S	probably benign	Het
Sspo	T	A	6: 48,451,206 (GRCm39)	F2720Y	probably null	Het
Tdrkh	T	A	3: 94,336,440 (GRCm39)	V459D	probably damaging	Het
Tent5a	A	G	9: 85,208,803 (GRCm39)	Y7H	probably benign	Het
Tlcd2	T	A	11: 75,360,630 (GRCm39)	D224E	probably damaging	Het
Tln2	T	A	9: 67,230,304 (GRCm39)	Q87L	probably benign	Het
Tmem131	A	T	1: 36,838,186 (GRCm39)		probably benign	Het
Tmem63a	G	A	1: 180,789,961 (GRCm39)	G378R	probably benign	Het
Trank1	C	A	9: 111,219,892 (GRCm39)	Q2210K	probably benign	Het
Trim24	T	A	6: 37,934,435 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,050,675 (GRCm39)	I238N	probably damaging	Het
Vps39	A	T	2: 120,153,548 (GRCm39)	D675E	probably benign	Het
Zfp229	T	A	17: 21,964,795 (GRCm39)	C342S	probably damaging	Het
Zfp759	A	G	13: 67,288,417 (GRCm39)	H656R	probably damaging	Het
Zfp994	T	C	17: 22,419,980 (GRCm39)	Y323C	probably damaging	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
R2359:Neurl1b	UTSW	17	26,660,569 (GRCm39)	missense	probably benign	0.03
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
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'- CCCAGTCTAAGGTGGAGTTTATG -3'
(R):5'- ATATCCTGTGCGCTCATGAGAG -3'

Sequencing Primer
(F):5'- GGTTAATAAAATTCCTGGCCACAG -3'
(R):5'- CTCATGAGAGACGGGTCGTG -3'

Posted On

2021-03-08