Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Nell1'

416980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nell1

Ensembl Gene

ENSMUSG00000055409

Gene Name

NEL-like 1

Synonyms

B230343H07Rik, l7R6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

49974864-50866608 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 50062611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081872] [ENSMUST00000107603] [ENSMUST00000151721]

AlphaFold

Q2VWQ2

Predicted Effect

probably null
Transcript: ENSMUST00000081872

SMART Domains

Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	29	213	8.5e-72	SMART
LamG	81	208	1.77e-14	SMART
coiled coil region	240	266	N/A	INTRINSIC
VWC	273	331	1.45e-6	SMART
VWC	335	389	1.34e0	SMART
EGF	394	433	1.06e0	SMART
EGF_CA	434	475	7.93e-9	SMART
EGF	479	516	1.1e-2	SMART
EGF	518	547	8.32e-3	SMART
EGF_CA	549	595	1.08e-10	SMART
EGF_like	596	635	1.84e-4	SMART
VWC	634	686	1.42e0	SMART
VWC	694	749	1.83e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107603

SMART Domains

Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	29	213	8.5e-72	SMART
LamG	81	208	1.77e-14	SMART
coiled coil region	240	266	N/A	INTRINSIC
VWC	273	331	1.45e-6	SMART
VWC	335	389	1.34e0	SMART
EGF	394	433	1.06e0	SMART
EGF_CA	434	475	7.93e-9	SMART
EGF	479	516	1.1e-2	SMART
EGF	518	547	8.32e-3	SMART
EGF_like	549	588	1.84e-4	SMART
VWC	587	639	1.42e0	SMART
VWC	647	702	1.83e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145096

Predicted Effect

probably null
Transcript: ENSMUST00000151721

SMART Domains

Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	29	213	8.5e-72	SMART
LamG	81	208	1.77e-14	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 3626314
Lethality: E19-E21
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Gene trapped(2) Chemically induced(9)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475 (GRCm38)	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023 (GRCm38)	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412 (GRCm38)	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000 (GRCm38)	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484 (GRCm38)	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441 (GRCm38)		probably null	Het
Clca4a	A	T	3: 144,953,866 (GRCm38)	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821 (GRCm38)		probably benign	Het
Col27a1	A	T	4: 63,314,722 (GRCm38)	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497 (GRCm38)	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837 (GRCm38)		probably null	Het
Fnbp1l	A	G	3: 122,557,949 (GRCm38)	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963 (GRCm38)	R48*	probably null	Het
Golga4	C	T	9: 118,537,233 (GRCm38)		probably benign	Het
Grin1	C	T	2: 25,298,393 (GRCm38)		probably null	Het
Ifi203	T	A	1: 173,937,835 (GRCm38)	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923 (GRCm38)	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122 (GRCm38)	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054 (GRCm38)	S275R	probably benign	Het
Lars	T	C	18: 42,221,506 (GRCm38)	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194 (GRCm38)	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711 (GRCm38)	H292L	probably damaging	Het
Nktr	T	C	9: 121,748,176 (GRCm38)	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016 (GRCm38)	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051 (GRCm38)	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729 (GRCm38)	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318 (GRCm38)	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774 (GRCm38)	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077 (GRCm38)	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969 (GRCm38)	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199 (GRCm38)	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665 (GRCm38)		probably benign	Het
Vmn1r218	T	C	13: 23,136,618 (GRCm38)	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494 (GRCm38)	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482 (GRCm38)	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146 (GRCm38)	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355 (GRCm38)	F382I	possibly damaging	Het

Other mutations in Nell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Nell1	APN	7	50,120,673 (GRCm38)	missense	probably damaging	0.96
IGL01434:Nell1	APN	7	50,701,208 (GRCm38)	missense	probably benign	0.01
IGL01796:Nell1	APN	7	50,176,216 (GRCm38)	splice site	probably benign
IGL02048:Nell1	APN	7	50,219,607 (GRCm38)	missense	probably damaging	0.96
IGL02239:Nell1	APN	7	50,249,650 (GRCm38)	missense	probably benign	0.08
IGL02860:Nell1	APN	7	50,848,485 (GRCm38)	missense	probably damaging	0.99
IGL02958:Nell1	APN	7	50,220,337 (GRCm38)	critical splice donor site	probably null
IGL03143:Nell1	APN	7	50,279,533 (GRCm38)	nonsense	probably null
D6062:Nell1	UTSW	7	50,258,191 (GRCm38)	missense	probably benign	0.21
P0018:Nell1	UTSW	7	50,120,691 (GRCm38)	missense	probably damaging	1.00
R0004:Nell1	UTSW	7	50,560,759 (GRCm38)	splice site	probably benign
R0029:Nell1	UTSW	7	50,120,715 (GRCm38)	splice site	probably benign
R0029:Nell1	UTSW	7	50,120,715 (GRCm38)	splice site	probably benign
R0468:Nell1	UTSW	7	50,228,846 (GRCm38)	missense	probably damaging	0.97
R0483:Nell1	UTSW	7	50,230,180 (GRCm38)	missense	probably benign	0.07
R0732:Nell1	UTSW	7	50,856,387 (GRCm38)	missense	probably damaging	1.00
R0945:Nell1	UTSW	7	50,219,585 (GRCm38)	missense	probably benign	0.07
R1022:Nell1	UTSW	7	50,120,663 (GRCm38)	missense	probably damaging	1.00
R1024:Nell1	UTSW	7	50,120,663 (GRCm38)	missense	probably damaging	1.00
R1075:Nell1	UTSW	7	50,853,840 (GRCm38)	missense	probably damaging	0.98
R1291:Nell1	UTSW	7	50,230,250 (GRCm38)	missense	probably benign	0.00
R1404:Nell1	UTSW	7	50,853,873 (GRCm38)	missense	possibly damaging	0.91
R1404:Nell1	UTSW	7	50,853,873 (GRCm38)	missense	possibly damaging	0.91
R1634:Nell1	UTSW	7	50,848,558 (GRCm38)	missense	possibly damaging	0.82
R1928:Nell1	UTSW	7	50,701,195 (GRCm38)	missense	possibly damaging	0.51
R2060:Nell1	UTSW	7	50,560,830 (GRCm38)	missense	possibly damaging	0.58
R2261:Nell1	UTSW	7	50,560,821 (GRCm38)	missense	possibly damaging	0.95
R2262:Nell1	UTSW	7	50,560,821 (GRCm38)	missense	possibly damaging	0.95
R2263:Nell1	UTSW	7	50,560,821 (GRCm38)	missense	possibly damaging	0.95
R2448:Nell1	UTSW	7	50,856,387 (GRCm38)	missense	probably damaging	1.00
R2869:Nell1	UTSW	7	50,249,657 (GRCm38)	intron	probably benign
R2870:Nell1	UTSW	7	50,249,657 (GRCm38)	intron	probably benign
R2871:Nell1	UTSW	7	50,249,657 (GRCm38)	intron	probably benign
R3498:Nell1	UTSW	7	50,258,179 (GRCm38)	missense	possibly damaging	0.55
R4044:Nell1	UTSW	7	50,219,619 (GRCm38)	missense	probably damaging	1.00
R4623:Nell1	UTSW	7	50,120,562 (GRCm38)	missense	possibly damaging	0.84
R4732:Nell1	UTSW	7	50,856,217 (GRCm38)	missense	probably damaging	1.00
R4733:Nell1	UTSW	7	50,856,217 (GRCm38)	missense	probably damaging	1.00
R4941:Nell1	UTSW	7	50,062,638 (GRCm38)	missense	probably benign	0.10
R4942:Nell1	UTSW	7	50,120,649 (GRCm38)	missense	possibly damaging	0.84
R5233:Nell1	UTSW	7	50,176,314 (GRCm38)	missense	probably damaging	0.99
R5590:Nell1	UTSW	7	50,279,611 (GRCm38)	missense	probably damaging	1.00
R5673:Nell1	UTSW	7	50,228,846 (GRCm38)	missense	probably damaging	0.99
R5741:Nell1	UTSW	7	50,560,890 (GRCm38)	splice site	probably null
R6345:Nell1	UTSW	7	49,975,423 (GRCm38)	missense	possibly damaging	0.91
R6916:Nell1	UTSW	7	50,701,179 (GRCm38)	missense	probably benign	0.00
R7051:Nell1	UTSW	7	50,448,844 (GRCm38)	missense	unknown
R7302:Nell1	UTSW	7	50,856,269 (GRCm38)	missense	probably benign
R7339:Nell1	UTSW	7	50,279,549 (GRCm38)	missense	probably benign	0.01
R7831:Nell1	UTSW	7	49,982,800 (GRCm38)	missense	possibly damaging	0.85
R7913:Nell1	UTSW	7	50,279,522 (GRCm38)	missense	possibly damaging	0.93
R8094:Nell1	UTSW	7	50,120,587 (GRCm38)	missense	probably benign	0.02
R8191:Nell1	UTSW	7	50,448,874 (GRCm38)	missense	unknown
R8207:Nell1	UTSW	7	50,220,012 (GRCm38)	splice site	probably null
R8292:Nell1	UTSW	7	50,258,247 (GRCm38)	missense	probably damaging	1.00
R8340:Nell1	UTSW	7	50,220,273 (GRCm38)	missense	probably damaging	0.98
R8673:Nell1	UTSW	7	50,219,595 (GRCm38)	missense	probably damaging	1.00
R8821:Nell1	UTSW	7	50,826,349 (GRCm38)	missense	probably damaging	0.98
R8987:Nell1	UTSW	7	50,848,651 (GRCm38)	missense	probably damaging	1.00
R8988:Nell1	UTSW	7	50,560,795 (GRCm38)	missense	unknown
R9095:Nell1	UTSW	7	50,856,402 (GRCm38)	missense	possibly damaging	0.92
R9300:Nell1	UTSW	7	50,062,620 (GRCm38)	missense	probably benign
R9370:Nell1	UTSW	7	50,120,544 (GRCm38)	missense	probably damaging	1.00
R9422:Nell1	UTSW	7	50,062,639 (GRCm38)	nonsense	probably null
R9428:Nell1	UTSW	7	50,853,935 (GRCm38)	missense	probably damaging	1.00
R9445:Nell1	UTSW	7	49,982,726 (GRCm38)	missense	possibly damaging	0.78
Z1176:Nell1	UTSW	7	50,560,882 (GRCm38)	missense	unknown

Posted On

2016-08-02