Mutagenetix > Incidental Mutation

Incidental Mutation 'R3770:Neurl1a'

273247

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

Accession Numbers

Essential gene?

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

Stock #

R3770 (G1)

Quality Score

197

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: 97.2%
20x: 94.8%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	C	11: 116,065,213 (GRCm39)	D578G	probably damaging	Het
Adgrb1	T	A	15: 74,460,157 (GRCm39)	I543N	probably damaging	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ano1	A	G	7: 144,149,306 (GRCm39)	Y852H	probably damaging	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Atp1a1	T	C	3: 101,488,510 (GRCm39)	D842G	probably benign	Het
Brd7	A	T	8: 89,066,035 (GRCm39)		probably null	Het
Btbd7	G	A	12: 102,761,451 (GRCm39)	P578L	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cfap54	C	T	10: 92,714,398 (GRCm39)	M2660I	unknown	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Exoc3l4	A	G	12: 111,391,989 (GRCm39)	D410G	probably benign	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,814,755 (GRCm39)	I2703V	probably benign	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Iqcg	G	A	16: 32,870,378 (GRCm39)		silent	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
Lipo5	G	T	19: 33,445,200 (GRCm39)	T123N	unknown	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Map3k5	T	A	10: 19,900,765 (GRCm39)	V313D	probably damaging	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Or5aq1	C	T	2: 86,966,158 (GRCm39)	C169Y	probably damaging	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
Ptpru	C	T	4: 131,535,735 (GRCm39)	C414Y	probably damaging	Het
Rasal3	A	T	17: 32,611,125 (GRCm39)	L912Q	probably damaging	Het
Reln	C	T	5: 22,153,564 (GRCm39)	V2247M	probably damaging	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
Slc12a3	A	G	8: 95,079,668 (GRCm39)	H832R	probably benign	Het
Slc27a2	A	G	2: 126,409,718 (GRCm39)	D300G	possibly damaging	Het
Sos1	A	G	17: 80,705,737 (GRCm39)	V1278A	probably damaging	Het
Sstr3	C	A	15: 78,424,577 (GRCm39)	V57L	probably damaging	Het
Tex2	T	A	11: 106,435,078 (GRCm39)	R783W	unknown	Het
Tjp2	A	T	19: 24,078,190 (GRCm39)	I901N	probably benign	Het
Top1	A	T	2: 160,563,442 (GRCm39)	I758F	probably damaging	Het
Trim41	T	C	11: 48,699,911 (GRCm39)	E98G	possibly damaging	Het
Vmn2r65	A	T	7: 84,589,623 (GRCm39)	N764K	probably damaging	Het
Vmn2r81	A	T	10: 79,106,434 (GRCm39)	I471F	probably damaging	Het
Wdr25	G	A	12: 108,864,346 (GRCm39)	V164M	probably damaging	Het
Zdhhc13	T	A	7: 48,452,692 (GRCm39)	L5M	probably damaging	Het
Zfp747l1	A	G	7: 126,984,035 (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
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