Mutagenetix > Incidental Mutation

Incidental Mutation 'R8482:Neurl1a'

657600

Institutional Source

Beutler Lab

Gene Symbol

Neurl1a

Ensembl Gene

ENSMUSG00000006435

Gene Name

neuralized E3 ubiquitin protein ligase 1A

Synonyms

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

MMRRC Submission

067926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R8482 (G1)

Quality Score

105.008

Status

Validated

Chromosome

Chromosomal Location

47167259-47247880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47241719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 271 (C271R)

Ref Sequence

ENSEMBL: ENSMUSP00000107439 (fasta)

Gene Model

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

AlphaFold

Q923S6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111807
AA Change: C254R

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107438
Gene: ENSMUSG00000006435
AA Change: C254R

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: C271R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107439
Gene: ENSMUSG00000006435
AA Change: C271R

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,746,492 (GRCm39)	V711I	probably benign	Het
Adprh	A	T	16: 38,267,871 (GRCm39)	M138K	probably damaging	Het
Ahctf1	A	G	1: 179,591,107 (GRCm39)		probably benign	Het
Atg9a	G	A	1: 75,162,870 (GRCm39)	T410M	probably damaging	Het
Atxn1	A	T	13: 45,721,426 (GRCm39)	S156R	possibly damaging	Het
Bptf	T	C	11: 106,934,524 (GRCm39)	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,414,427 (GRCm39)	D109G	probably damaging	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Clec4a2	T	C	6: 123,100,630 (GRCm39)		probably null	Het
Col13a1	A	G	10: 61,720,477 (GRCm39)	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,058,852 (GRCm39)	S349R	probably benign	Het
Eml5	C	A	12: 98,842,560 (GRCm39)	L179F	probably damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Ets2	A	T	16: 95,516,019 (GRCm39)	M200L	probably benign	Het
Fat3	T	C	9: 16,158,263 (GRCm39)	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616 (GRCm38)	V24A	probably benign	Het
Gm6685	T	C	11: 28,289,195 (GRCm39)	N207S	probably benign	Het
Hdc	G	A	2: 126,436,125 (GRCm39)	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,756,222 (GRCm39)	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,090,527 (GRCm39)	S1164T	probably benign	Het
Ldb1	C	A	19: 46,024,709 (GRCm39)	D5Y	probably null	Het
Lpcat1	G	A	13: 73,659,044 (GRCm39)	R320H	probably benign	Het
Lrfn4	T	C	19: 4,664,333 (GRCm39)	D67G	probably damaging	Het
Myo15b	C	T	11: 115,774,083 (GRCm39)	Q550*	probably null	Het
Myo18b	C	A	5: 113,019,489 (GRCm39)	E43*	probably null	Het
Nfasc	T	C	1: 132,532,827 (GRCm39)	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377 (GRCm38)	S501P	probably benign	Het
Nlrp1a	A	T	11: 70,999,901 (GRCm39)		probably null	Het
Npw	A	G	17: 24,876,396 (GRCm39)	W172R	probably benign	Het
Nudt8	T	C	19: 4,050,849 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,219,352 (GRCm39)	Y458F	probably damaging	Het
Or10ag56	G	A	2: 87,139,726 (GRCm39)	V198I	probably benign	Het
Osbpl5	T	A	7: 143,258,731 (GRCm39)	T280S	probably benign	Het
Pex1	A	T	5: 3,662,923 (GRCm39)	I505F	probably benign	Het
Pfkm	A	G	15: 98,029,864 (GRCm39)	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,558,166 (GRCm39)	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,330,410 (GRCm39)	S321P	probably benign	Het
Prxl2a	C	T	14: 40,719,723 (GRCm39)	E164K	probably benign	Het
Qdpr	G	T	5: 45,596,688 (GRCm39)	Q159K	probably benign	Het
Rac2	T	C	15: 78,450,206 (GRCm39)	M45V	probably benign	Het
Rnaset2b	G	A	17: 7,263,908 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Sacs	G	T	14: 61,440,404 (GRCm39)	V817L	probably benign	Het
Selenot	T	C	3: 58,495,889 (GRCm39)	F133S	probably damaging	Het
Sgcg	G	A	14: 61,477,856 (GRCm39)	L78F	probably damaging	Het
Slc19a1	A	G	10: 76,885,497 (GRCm39)	R466G	probably benign	Het
Tpr	A	G	1: 150,309,451 (GRCm39)	T1736A	probably damaging	Het
Zfhx3	A	G	8: 109,674,511 (GRCm39)	I1854V	probably benign	Het
Zfp652	T	C	11: 95,643,719 (GRCm39)	S306P	probably damaging	Het
Zfp998	C	T	13: 66,579,797 (GRCm39)		probably benign	Het

Other mutations in Neurl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03186:Neurl1a	APN	19	47,228,916 (GRCm39)	missense	probably damaging	0.99
R1403:Neurl1a	UTSW	19	47,242,150 (GRCm39)	missense	probably damaging	1.00
R1822:Neurl1a	UTSW	19	47,245,898 (GRCm39)	missense	probably benign	0.16
R3040:Neurl1a	UTSW	19	47,228,270 (GRCm39)	missense	probably benign	0.00
R3435:Neurl1a	UTSW	19	47,245,964 (GRCm39)	missense	probably damaging	1.00
R3767:Neurl1a	UTSW	19	47,228,328 (GRCm39)	missense	probably damaging	1.00
R3770:Neurl1a	UTSW	19	47,228,328 (GRCm39)	missense	probably damaging	1.00
R3884:Neurl1a	UTSW	19	47,241,885 (GRCm39)	missense	probably benign	0.30
R4539:Neurl1a	UTSW	19	47,245,183 (GRCm39)	missense	probably damaging	1.00
R5108:Neurl1a	UTSW	19	47,246,074 (GRCm39)	missense	probably damaging	1.00
R5644:Neurl1a	UTSW	19	47,167,916 (GRCm39)	missense	probably benign
R6167:Neurl1a	UTSW	19	47,228,367 (GRCm39)	missense	probably damaging	1.00
R7353:Neurl1a	UTSW	19	47,229,099 (GRCm39)	missense	probably damaging	1.00
R8088:Neurl1a	UTSW	19	47,245,873 (GRCm39)	missense	probably damaging	1.00
R8097:Neurl1a	UTSW	19	47,245,958 (GRCm39)	missense	probably damaging	1.00
X0063:Neurl1a	UTSW	19	47,242,113 (GRCm39)	missense	possibly damaging	0.77
Z1176:Neurl1a	UTSW	19	47,228,312 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCTGAGCAGTAGTATCTTTAGTGC -3'
(R):5'- ATGAAGATGGTCTCGGCCAC -3'

Sequencing Primer
(F):5'- CTGTGGGACGGTGACAGTC -3'
(R):5'- AGGCCGGCTGGTGAAGAC -3'

Posted On

2021-01-18