Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Nell1'

475559

Institutional Source

Beutler Lab

Gene Symbol

Nell1

Ensembl Gene

ENSMUSG00000055409

Gene Name

NEL-like 1

Synonyms

l7R6, B230343H07Rik

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49625098-50513037 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 49899405 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

silent
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

silent
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 benign
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

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
IGL03334:Nell1	APN	7	49,712,359 (GRCm39)	splice site	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
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

Predicted Primers

Posted On

2017-05-11