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

l7R6, B230343H07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

49625098-50513037 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 49712359 bp (GRCm39)

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

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: 48,838,302 (GRCm39)	F762L	probably benign	Het
Angpt1	T	A	15: 42,359,808 (GRCm39)	E208V	possibly damaging	Het
Arhgef18	A	T	8: 3,438,023 (GRCm39)	I286F	probably benign	Het
Arhgef5	T	C	6: 43,250,934 (GRCm39)	S562P	possibly damaging	Het
Asb6	T	C	2: 30,714,496 (GRCm39)	T205A	probably benign	Het
B4galnt4	G	A	7: 140,647,354 (GRCm39)		probably null	Het
Clca4a	A	T	3: 144,659,627 (GRCm39)	M743K	probably benign	Het
Col14a1	T	C	15: 55,312,217 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,232,959 (GRCm39)	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,394,234 (GRCm39)	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,373,890 (GRCm39)		probably null	Het
Fnbp1l	A	G	3: 122,351,598 (GRCm39)	V315A	probably benign	Het
Gm17174	T	A	14: 51,829,420 (GRCm39)	R48*	probably null	Het
Golga4	C	T	9: 118,366,301 (GRCm39)		probably benign	Het
Grin1	C	T	2: 25,188,405 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,765,401 (GRCm39)	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,733,543 (GRCm39)	S93P	probably benign	Het
Il27ra	A	G	8: 84,757,751 (GRCm39)	V594A	probably benign	Het
Krr1	T	G	10: 111,815,959 (GRCm39)	S275R	probably benign	Het
Lars1	T	C	18: 42,354,571 (GRCm39)	D792G	probably benign	Het
Myo1f	G	A	17: 33,817,168 (GRCm39)	R737H	probably damaging	Het
Nebl	T	A	2: 17,418,522 (GRCm39)	H292L	probably damaging	Het
Nktr	T	C	9: 121,577,242 (GRCm39)	F412L	probably benign	Het
Nlrp3	T	A	11: 59,439,842 (GRCm39)	I473N	probably damaging	Het
Or1j10	T	C	2: 36,267,063 (GRCm39)	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,844,810 (GRCm39)	V1383A	probably damaging	Het
Prss48	T	C	3: 85,904,625 (GRCm39)	E191G	probably damaging	Het
Psg25	T	A	7: 18,263,699 (GRCm39)	L41F	probably benign	Het
Sema3b	A	G	9: 107,481,276 (GRCm39)	L78P	probably damaging	Het
Spen	G	T	4: 141,197,280 (GRCm39)	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,420,104 (GRCm39)	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,172,491 (GRCm39)		probably benign	Het
Vmn1r218	T	C	13: 23,320,788 (GRCm39)	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,789,493 (GRCm39)	Y748F	probably damaging	Het
Vps18	C	T	2: 119,127,963 (GRCm39)	R929W	probably damaging	Het
Xpnpep1	T	C	19: 52,998,577 (GRCm39)	K224E	probably damaging	Het
Zbed5	T	A	5: 129,931,196 (GRCm39)	F382I	possibly damaging	Het

Other mutations in Nell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Nell1	APN	7	49,770,421 (GRCm39)	missense	probably damaging	0.96
IGL01434:Nell1	APN	7	50,350,956 (GRCm39)	missense	probably benign	0.01
IGL01796:Nell1	APN	7	49,825,964 (GRCm39)	splice site	probably benign
IGL02048:Nell1	APN	7	49,869,355 (GRCm39)	missense	probably damaging	0.96
IGL02239:Nell1	APN	7	49,899,398 (GRCm39)	missense	probably benign	0.08
IGL02860:Nell1	APN	7	50,498,233 (GRCm39)	missense	probably damaging	0.99
IGL02958:Nell1	APN	7	49,870,085 (GRCm39)	critical splice donor site	probably null
IGL03143:Nell1	APN	7	49,929,281 (GRCm39)	nonsense	probably null
D6062:Nell1	UTSW	7	49,907,939 (GRCm39)	missense	probably benign	0.21
P0018:Nell1	UTSW	7	49,770,439 (GRCm39)	missense	probably damaging	1.00
R0004:Nell1	UTSW	7	50,210,507 (GRCm39)	splice site	probably benign
R0029:Nell1	UTSW	7	49,770,463 (GRCm39)	splice site	probably benign
R0029:Nell1	UTSW	7	49,770,463 (GRCm39)	splice site	probably benign
R0468:Nell1	UTSW	7	49,878,594 (GRCm39)	missense	probably damaging	0.97
R0483:Nell1	UTSW	7	49,879,928 (GRCm39)	missense	probably benign	0.07
R0732:Nell1	UTSW	7	50,506,135 (GRCm39)	missense	probably damaging	1.00
R0945:Nell1	UTSW	7	49,869,333 (GRCm39)	missense	probably benign	0.07
R1022:Nell1	UTSW	7	49,770,411 (GRCm39)	missense	probably damaging	1.00
R1024:Nell1	UTSW	7	49,770,411 (GRCm39)	missense	probably damaging	1.00
R1075:Nell1	UTSW	7	50,503,588 (GRCm39)	missense	probably damaging	0.98
R1291:Nell1	UTSW	7	49,879,998 (GRCm39)	missense	probably benign	0.00
R1404:Nell1	UTSW	7	50,503,621 (GRCm39)	missense	possibly damaging	0.91
R1404:Nell1	UTSW	7	50,503,621 (GRCm39)	missense	possibly damaging	0.91
R1634:Nell1	UTSW	7	50,498,306 (GRCm39)	missense	possibly damaging	0.82
R1928:Nell1	UTSW	7	50,350,943 (GRCm39)	missense	possibly damaging	0.51
R2060:Nell1	UTSW	7	50,210,578 (GRCm39)	missense	possibly damaging	0.58
R2261:Nell1	UTSW	7	50,210,569 (GRCm39)	missense	possibly damaging	0.95
R2262:Nell1	UTSW	7	50,210,569 (GRCm39)	missense	possibly damaging	0.95
R2263:Nell1	UTSW	7	50,210,569 (GRCm39)	missense	possibly damaging	0.95
R2448:Nell1	UTSW	7	50,506,135 (GRCm39)	missense	probably damaging	1.00
R2869:Nell1	UTSW	7	49,899,405 (GRCm39)	intron	probably benign
R2870:Nell1	UTSW	7	49,899,405 (GRCm39)	intron	probably benign
R2871:Nell1	UTSW	7	49,899,405 (GRCm39)	intron	probably benign
R3498:Nell1	UTSW	7	49,907,927 (GRCm39)	missense	possibly damaging	0.55
R4044:Nell1	UTSW	7	49,869,367 (GRCm39)	missense	probably damaging	1.00
R4623:Nell1	UTSW	7	49,770,310 (GRCm39)	missense	possibly damaging	0.84
R4732:Nell1	UTSW	7	50,505,965 (GRCm39)	missense	probably damaging	1.00
R4733:Nell1	UTSW	7	50,505,965 (GRCm39)	missense	probably damaging	1.00
R4941:Nell1	UTSW	7	49,712,386 (GRCm39)	missense	probably benign	0.10
R4942:Nell1	UTSW	7	49,770,397 (GRCm39)	missense	possibly damaging	0.84
R5233:Nell1	UTSW	7	49,826,062 (GRCm39)	missense	probably damaging	0.99
R5590:Nell1	UTSW	7	49,929,359 (GRCm39)	missense	probably damaging	1.00
R5673:Nell1	UTSW	7	49,878,594 (GRCm39)	missense	probably damaging	0.99
R5741:Nell1	UTSW	7	50,210,638 (GRCm39)	splice site	probably null
R6345:Nell1	UTSW	7	49,625,171 (GRCm39)	missense	possibly damaging	0.91
R6916:Nell1	UTSW	7	50,350,927 (GRCm39)	missense	probably benign	0.00
R7051:Nell1	UTSW	7	50,098,592 (GRCm39)	missense	unknown
R7302:Nell1	UTSW	7	50,506,017 (GRCm39)	missense	probably benign
R7339:Nell1	UTSW	7	49,929,297 (GRCm39)	missense	probably benign	0.01
R7831:Nell1	UTSW	7	49,632,548 (GRCm39)	missense	possibly damaging	0.85
R7913:Nell1	UTSW	7	49,929,270 (GRCm39)	missense	possibly damaging	0.93
R8094:Nell1	UTSW	7	49,770,335 (GRCm39)	missense	probably benign	0.02
R8191:Nell1	UTSW	7	50,098,622 (GRCm39)	missense	unknown
R8207:Nell1	UTSW	7	49,869,760 (GRCm39)	splice site	probably null
R8292:Nell1	UTSW	7	49,907,995 (GRCm39)	missense	probably damaging	1.00
R8340:Nell1	UTSW	7	49,870,021 (GRCm39)	missense	probably damaging	0.98
R8673:Nell1	UTSW	7	49,869,343 (GRCm39)	missense	probably damaging	1.00
R8821:Nell1	UTSW	7	50,476,097 (GRCm39)	missense	probably damaging	0.98
R8987:Nell1	UTSW	7	50,498,399 (GRCm39)	missense	probably damaging	1.00
R8988:Nell1	UTSW	7	50,210,543 (GRCm39)	missense	unknown
R9095:Nell1	UTSW	7	50,506,150 (GRCm39)	missense	possibly damaging	0.92
R9300:Nell1	UTSW	7	49,712,368 (GRCm39)	missense	probably benign
R9370:Nell1	UTSW	7	49,770,292 (GRCm39)	missense	probably damaging	1.00
R9422:Nell1	UTSW	7	49,712,387 (GRCm39)	nonsense	probably null
R9428:Nell1	UTSW	7	50,503,683 (GRCm39)	missense	probably damaging	1.00
R9445:Nell1	UTSW	7	49,632,474 (GRCm39)	missense	possibly damaging	0.78
Z1176:Nell1	UTSW	7	50,210,630 (GRCm39)	missense	unknown

Posted On

2016-08-02