Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Neurl1a'

570772

Institutional Source

Beutler Lab

Gene Symbol

Neurl1a

Ensembl Gene

ENSMUSG00000006435

Gene Name

neuralized E3 ubiquitin protein ligase 1A

Synonyms

Neur1, Rnf67, Neurl, Neu1, Nlz, 2410129E16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47178820-47259440 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47240660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 213 (V213A)

Ref Sequence

ENSEMBL: ENSMUSP00000107439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111807] [ENSMUST00000111808]

AlphaFold

Q923S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000111807
AA Change: V196A

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

SMART Domains

Protein: ENSMUSP00000107438
Gene: ENSMUSG00000006435
AA Change: V196A

Domain	Start	End	E-Value	Type
NEUZ	43	166	8.33e-66	SMART
Blast:NEUZ	186	213	1e-8	BLAST
low complexity region	241	253	N/A	INTRINSIC
NEUZ	274	397	1.79e-56	SMART
low complexity region	440	456	N/A	INTRINSIC
low complexity region	469	482	N/A	INTRINSIC
RING	504	543	2.22e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111808
AA Change: V213A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107439
Gene: ENSMUSG00000006435
AA Change: V213A

Domain	Start	End	E-Value	Type
NEUZ	60	183	8.33e-66	SMART
Blast:NEUZ	203	230	9e-9	BLAST
low complexity region	258	270	N/A	INTRINSIC
NEUZ	291	414	1.79e-56	SMART
low complexity region	457	473	N/A	INTRINSIC
low complexity region	486	499	N/A	INTRINSIC
RING	521	560	2.22e-2	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Depending on the targeted mutation, homozygotes show a spectrum of conflicting phenotypes ranging from axonemal and spermatid abnormalities, male sterility and deficient lactation, to just a specific olfactory discrimination defect and ethanol hypersensitivity on motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,635,686	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000	I205F	possibly damaging	Het
Magel2	G	T	7: 62,379,331	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392	A446D		Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751	V755M	probably benign	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	probably benign	Het

Other mutations in Neurl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03186:Neurl1a	APN	19	47240477	missense	probably damaging	0.99
R1403:Neurl1a	UTSW	19	47253711	missense	probably damaging	1.00
R1822:Neurl1a	UTSW	19	47257459	missense	probably benign	0.16
R3040:Neurl1a	UTSW	19	47239831	missense	probably benign	0.00
R3435:Neurl1a	UTSW	19	47257525	missense	probably damaging	1.00
R3767:Neurl1a	UTSW	19	47239889	missense	probably damaging	1.00
R3770:Neurl1a	UTSW	19	47239889	missense	probably damaging	1.00
R3884:Neurl1a	UTSW	19	47253446	missense	probably benign	0.30
R4539:Neurl1a	UTSW	19	47256744	missense	probably damaging	1.00
R5108:Neurl1a	UTSW	19	47257635	missense	probably damaging	1.00
R5644:Neurl1a	UTSW	19	47179477	missense	probably benign
R6167:Neurl1a	UTSW	19	47239928	missense	probably damaging	1.00
R8088:Neurl1a	UTSW	19	47257434	missense	probably damaging	1.00
R8097:Neurl1a	UTSW	19	47257519	missense	probably damaging	1.00
R8482:Neurl1a	UTSW	19	47253280	missense	probably damaging	0.99
X0063:Neurl1a	UTSW	19	47253674	missense	possibly damaging	0.77
Z1176:Neurl1a	UTSW	19	47239873	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGCCTGAGGAGTTTGCCAAC -3'
(R):5'- AACTCAGAGAGCACCCTGAG -3'

Sequencing Primer
(F):5'- TGAGGAGTTTGCCAACGAGGG -3'
(R):5'- CCCACTTGCCAAAGCTGTG -3'

Posted On

2019-09-13