Mutagenetix > Incidental Mutation

Incidental Mutation 'R3767:Neurl1a'

273091

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

040744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R3767 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

47167259-47247880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47228328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 58 (L58P)

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: L41P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107438
Gene: ENSMUSG00000006435
AA Change: L41P

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: L58P

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

SMART Domains

Protein: ENSMUSP00000107439
Gene: ENSMUSG00000006435
AA Change: L58P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	A	16: 22,975,938 (GRCm39)	V134E	possibly damaging	Het
Agmat	A	G	4: 141,483,273 (GRCm39)	T236A	probably benign	Het
Anxa9	T	C	3: 95,208,425 (GRCm39)	N197S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Axdnd1	G	A	1: 156,208,428 (GRCm39)	T470M	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cdh3	A	T	8: 107,263,606 (GRCm39)		probably null	Het
Cep85l	A	T	10: 53,167,906 (GRCm39)	I624K	probably benign	Het
Cplx4	T	C	18: 66,102,998 (GRCm39)	T41A	probably benign	Het
Dchs1	A	T	7: 105,406,292 (GRCm39)	D2313E	possibly damaging	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Exo1	C	T	1: 175,714,312 (GRCm39)	P73L	probably damaging	Het
Fgfrl1	C	A	5: 108,853,242 (GRCm39)	H197Q	possibly damaging	Het
Fsbp	G	A	4: 11,583,706 (GRCm39)	G135D	probably damaging	Het
Herc3	G	A	6: 58,839,973 (GRCm39)	R362H	probably benign	Het
Herc3	T	C	6: 58,853,587 (GRCm39)	F583L	probably benign	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Ighv1-54	A	G	12: 115,157,596 (GRCm39)	V17A	possibly damaging	Het
Kcnh5	A	G	12: 75,134,350 (GRCm39)	Y400H	possibly damaging	Het
Kcnk16	T	A	14: 20,319,230 (GRCm39)	M1L	possibly damaging	Het
Kctd19	T	C	8: 106,123,112 (GRCm39)	T101A	probably benign	Het
Klf3	A	G	5: 64,984,560 (GRCm39)		probably null	Het
Krtap12-1	G	T	10: 77,556,729 (GRCm39)	V91L	probably benign	Het
Lonp1	T	C	17: 56,928,952 (GRCm39)	E270G	possibly damaging	Het
Mgl2	T	C	11: 70,026,659 (GRCm39)	L128P	probably damaging	Het
Mrc1	A	G	2: 14,323,981 (GRCm39)	Y1106C	probably damaging	Het
Mybpc1	G	T	10: 88,406,521 (GRCm39)		probably null	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Nlrp4e	G	T	7: 23,039,988 (GRCm39)	L770F	probably damaging	Het
Npas3	A	G	12: 54,115,857 (GRCm39)	*895W	probably null	Het
Nphs2	T	C	1: 156,140,608 (GRCm39)	I115T	probably damaging	Het
Or1ad6	A	G	11: 50,860,385 (GRCm39)	D180G	probably damaging	Het
Or8g22	T	A	9: 38,958,707 (GRCm39)	H47L	unknown	Het
Patj	A	T	4: 98,569,456 (GRCm39)	K1128*	probably null	Het
Pla2g5	C	G	4: 138,528,746 (GRCm39)	C70S	probably damaging	Het
Pole4	G	A	6: 82,599,095 (GRCm39)	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,740,027 (GRCm39)	L367F	probably damaging	Het
Ppp1r13b	G	T	12: 111,812,851 (GRCm39)	R123S	probably damaging	Het
Ptpru	C	T	4: 131,535,735 (GRCm39)	C414Y	probably damaging	Het
Pum2	T	A	12: 8,769,076 (GRCm39)	Y323*	probably null	Het
Rhot2	T	C	17: 26,059,521 (GRCm39)	D407G	probably benign	Het
Rreb1	C	T	13: 38,113,579 (GRCm39)	R313W	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn11a	T	A	9: 119,613,115 (GRCm39)	D825V	probably damaging	Het
Selenoi	A	G	5: 30,461,187 (GRCm39)	Y141C	probably damaging	Het
Smcr8	A	G	11: 60,670,330 (GRCm39)	T493A	probably benign	Het
Tjp2	A	T	19: 24,078,190 (GRCm39)	I901N	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttc23l	T	A	15: 10,530,781 (GRCm39)	Y277F	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Wdr1	C	T	5: 38,697,882 (GRCm39)	G228R	probably damaging	Het
Xab2	T	C	8: 3,669,053 (GRCm39)	N31S	probably damaging	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
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
R8482:Neurl1a	UTSW	19	47,241,719 (GRCm39)	missense	probably damaging	0.99
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'- TGCTGGTGAAGGAGTAAATGCC -3'
(R):5'- TGGTAGTGGAACAGCAGACC -3'

Sequencing Primer
(F):5'- TAAATGCCGAGCCGTGG -3'
(R):5'- TGGAACAGCAGACCGTGGC -3'

Posted On

2015-03-25