Mutagenetix > Incidental Mutation

Incidental Mutation 'R3720:Neurl1b'

348332

Institutional Source

Beutler Lab

Gene Symbol

Neurl1b

Ensembl Gene

ENSMUSG00000034413

Gene Name

neuralized E3 ubiquitin protein ligase 1B

Synonyms

EG240055, Neur2, C230078M08Rik

MMRRC Submission

040711-MU

Accession Numbers

Essential gene?

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

Stock #

R3720 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26633833-26665295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26633949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 4 (T4M)

Ref Sequence

ENSEMBL: ENSMUSP00000138417 (fasta)

Gene Model

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

AlphaFold

Q0MW30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053020
AA Change: T4M

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051481
Gene: ENSMUSG00000034413
AA Change: T4M

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 damaging
Transcript: ENSMUST00000182897
AA Change: T4M

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

SMART Domains

Protein: ENSMUSP00000138417
Gene: ENSMUSG00000034413
AA Change: T4M

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

possibly damaging
Transcript: ENSMUST00000183077
AA Change: T4M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138178
Gene: ENSMUSG00000034413
AA Change: T4M

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

0.0597

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Atp2c1	A	T	9: 105,300,175 (GRCm39)	M708K	probably damaging	Het
C9	A	G	15: 6,512,600 (GRCm39)	T241A	possibly damaging	Het
Ccrl2	T	C	9: 110,885,432 (GRCm39)	D22G	probably benign	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cntnap5c	T	C	17: 58,637,197 (GRCm39)	S1025P	probably benign	Het
Col8a1	T	C	16: 57,447,279 (GRCm39)	M744V	unknown	Het
Cstf3	A	G	2: 104,483,431 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Fry	T	C	5: 150,378,037 (GRCm39)	S410P	probably damaging	Het
Glt6d1	ACCC	ACCCC	2: 25,685,179 (GRCm39)		probably null	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Hivep1	C	T	13: 42,312,077 (GRCm39)	T1439I	probably benign	Het
Iqgap2	T	C	13: 95,805,036 (GRCm39)		probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kif1c	T	C	11: 70,594,597 (GRCm39)	F86L	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Ldb1	C	T	19: 46,033,331 (GRCm39)		probably benign	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Med23	T	C	10: 24,767,018 (GRCm39)	L369S	probably damaging	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Myo1b	G	T	1: 51,815,505 (GRCm39)	H614N	possibly damaging	Het
Or10al7	T	C	17: 38,366,259 (GRCm39)	Y66C	probably damaging	Het
Or5t15	T	C	2: 86,681,935 (GRCm39)	T36A	probably benign	Het
Polg	G	A	7: 79,106,539 (GRCm39)	Q163*	probably null	Het
Pramel12	A	G	4: 143,145,949 (GRCm39)	T473A	probably benign	Het
Sdk2	G	A	11: 113,691,070 (GRCm39)	P1835L	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Snx31	T	C	15: 36,523,704 (GRCm39)		probably null	Het
Speg	A	T	1: 75,403,426 (GRCm39)	H2590L	probably damaging	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Swap70	A	G	7: 109,869,254 (GRCm39)	E349G	probably damaging	Het
Sybu	A	G	15: 44,536,028 (GRCm39)	V766A	possibly damaging	Het
Tns3	G	A	11: 8,442,999 (GRCm39)	R455W	probably damaging	Het
Tnxb	T	A	17: 34,931,938 (GRCm39)	V2157E	possibly damaging	Het
Trak2	A	T	1: 58,985,404 (GRCm39)		probably null	Het
Trav18	C	T	14: 54,069,074 (GRCm39)	R39C	possibly damaging	Het
Uroc1	G	A	6: 90,323,337 (GRCm39)	V352M	probably damaging	Het
Zfp106	A	C	2: 120,365,080 (GRCm39)	I442M	probably benign	Het
Zfp935	G	A	13: 62,602,846 (GRCm39)	Q98*	probably null	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
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'- GTGCAAACTTTCAAAAGACGC -3'
(R):5'- GCCAAGAACTAGCACGTGTG -3'

Sequencing Primer
(F):5'- CTTTCAAAAGACGCGGCGG -3'
(R):5'- GACCTCCGGCTGGAACAAAG -3'

Posted On

2015-10-08