Incidental Mutation 'R7051:Nell1'
| ID |
547585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
045148-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50098592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 298
(S298L)
|
| 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 |
unknown
Transcript: ENSMUST00000151721
AA Change: S298L
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: S298L
| 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 |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (80/84) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
C |
T |
8: 33,919,201 (GRCm39) |
S7L |
unknown |
Het |
| Aggf1 |
T |
C |
13: 95,488,125 (GRCm39) |
K674R |
possibly damaging |
Het |
| Ampd1 |
T |
C |
3: 102,997,389 (GRCm39) |
F264L |
probably damaging |
Het |
| Ankle1 |
A |
T |
8: 71,860,387 (GRCm39) |
S302C |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,514,310 (GRCm39) |
|
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
| Atp5pb |
T |
C |
3: 105,851,083 (GRCm39) |
N205D |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,355,858 (GRCm39) |
E1285K |
probably benign |
Het |
| Atp8b3 |
C |
A |
10: 80,365,552 (GRCm39) |
V401L |
probably damaging |
Het |
| Cacna1a |
G |
A |
8: 85,356,544 (GRCm39) |
R1929Q |
possibly damaging |
Het |
| Cadm2 |
C |
T |
16: 66,679,767 (GRCm39) |
S22N |
possibly damaging |
Het |
| Ccdc177 |
C |
T |
12: 80,805,927 (GRCm39) |
V116M |
probably damaging |
Het |
| Cdhr18 |
A |
G |
14: 13,828,486 (GRCm38) |
V758A |
|
Het |
| Cdkl2 |
A |
T |
5: 92,181,084 (GRCm39) |
I185N |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,738,716 (GRCm39) |
I282L |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,361,824 (GRCm39) |
|
probably null |
Het |
| Commd2 |
A |
T |
3: 57,554,107 (GRCm39) |
I198N |
probably damaging |
Het |
| Creb3l2 |
C |
T |
6: 37,313,200 (GRCm39) |
V365I |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,251,886 (GRCm39) |
N79K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,196,263 (GRCm39) |
N1622D |
possibly damaging |
Het |
| Dock7 |
C |
T |
4: 98,834,969 (GRCm39) |
R1802H |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,495,789 (GRCm39) |
K643R |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,620,986 (GRCm39) |
T574M |
probably benign |
Het |
| Fam209 |
A |
G |
2: 172,315,969 (GRCm39) |
T115A |
probably damaging |
Het |
| Fastkd5 |
C |
T |
2: 130,456,337 (GRCm39) |
C751Y |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,123 (GRCm39) |
L133F |
probably damaging |
Het |
| Fcsk |
A |
T |
8: 111,616,971 (GRCm39) |
I393N |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,944,170 (GRCm39) |
V516A |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,318,634 (GRCm39) |
D955N |
possibly damaging |
Het |
| Gm7298 |
T |
C |
6: 121,751,993 (GRCm39) |
|
probably null |
Het |
| Golga7b |
T |
A |
19: 42,256,899 (GRCm39) |
*168R |
probably null |
Het |
| Golim4 |
T |
A |
3: 75,800,309 (GRCm39) |
Q395L |
probably benign |
Het |
| Gxylt2 |
T |
A |
6: 100,781,537 (GRCm39) |
L404* |
probably null |
Het |
| H1f4 |
A |
G |
13: 23,806,422 (GRCm39) |
V20A |
probably benign |
Het |
| Ighmbp2 |
G |
T |
19: 3,311,462 (GRCm39) |
S984R |
probably damaging |
Het |
| Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,148,470 (GRCm39) |
V788A |
possibly damaging |
Het |
| Kifap3 |
G |
A |
1: 163,621,649 (GRCm39) |
R99H |
probably damaging |
Het |
| Kiss1r |
T |
C |
10: 79,754,688 (GRCm39) |
S61P |
probably damaging |
Het |
| Krtap6-1 |
A |
T |
16: 88,828,606 (GRCm39) |
M1L |
unknown |
Het |
| Large2 |
A |
T |
2: 92,197,367 (GRCm39) |
M411K |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,574,191 (GRCm39) |
D982G |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,467 (GRCm39) |
V374A |
probably benign |
Het |
| Lrch1 |
A |
G |
14: 75,022,962 (GRCm39) |
V637A |
probably damaging |
Het |
| Lyar |
T |
C |
5: 38,382,024 (GRCm39) |
V2A |
probably damaging |
Het |
| Ogfod3 |
T |
A |
11: 121,086,031 (GRCm39) |
I188F |
probably damaging |
Het |
| Opa3 |
C |
A |
7: 18,978,961 (GRCm39) |
A142E |
possibly damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,769 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,538 (GRCm39) |
T224A |
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,159,125 (GRCm39) |
R769G |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,753 (GRCm39) |
T86S |
unknown |
Het |
| Papss1 |
T |
C |
3: 131,307,811 (GRCm39) |
Y266H |
probably damaging |
Het |
| Pcdhga7 |
C |
A |
18: 37,849,994 (GRCm39) |
A667D |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,411,095 (GRCm39) |
T1766S |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,717,747 (GRCm39) |
N1129K |
possibly damaging |
Het |
| Pop7 |
T |
C |
5: 137,499,952 (GRCm39) |
N127S |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,316,925 (GRCm39) |
E300G |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,132,507 (GRCm39) |
K87E |
probably damaging |
Het |
| Psmd3 |
T |
A |
11: 98,573,659 (GRCm39) |
M35K |
possibly damaging |
Het |
| Pus7 |
A |
G |
5: 23,980,677 (GRCm39) |
V191A |
probably damaging |
Het |
| Rptor |
C |
T |
11: 119,765,012 (GRCm39) |
|
probably benign |
Het |
| Sacs |
A |
G |
14: 61,446,377 (GRCm39) |
M2808V |
probably benign |
Het |
| Scube3 |
G |
A |
17: 28,386,573 (GRCm39) |
V831I |
probably benign |
Het |
| Sin3a |
A |
T |
9: 57,011,218 (GRCm39) |
N492Y |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,092,572 (GRCm39) |
T998A |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,247,084 (GRCm39) |
N501S |
probably benign |
Het |
| Sltm |
G |
A |
9: 70,466,348 (GRCm39) |
G94R |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,934,835 (GRCm39) |
W650R |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,740,279 (GRCm39) |
N391D |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,498,758 (GRCm39) |
V845M |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,253,699 (GRCm39) |
F793L |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,037 (GRCm39) |
I193V |
probably damaging |
Het |
| Ugt1a5 |
A |
G |
1: 88,094,077 (GRCm39) |
M102V |
probably benign |
Het |
| Usp38 |
G |
A |
8: 81,727,750 (GRCm39) |
P328S |
possibly damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,285 (GRCm39) |
V184A |
possibly damaging |
Het |
| Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,525,840 (GRCm39) |
L121Q |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,580,507 (GRCm39) |
S315P |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,568,597 (GRCm39) |
S1297P |
probably damaging |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TGGGTTCTCAACTGTGGCAC -3'
(R):5'- TGCAGAGCAAGGATGACTTAGC -3'
Sequencing Primer
(F):5'- ATGCTCTCAGCTCAGAATGG -3'
(R):5'- TGACTTAGCAAAGCAGCCGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation