Incidental Mutation 'R4623:Nell1'
| ID |
346329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
041888-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4623 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49770310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 123
(E123G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
[ENSMUST00000151721]
|
| AlphaFold |
Q2VWQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081872
AA Change: E123G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: E123G
| 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 benign
Transcript: ENSMUST00000107603
AA Change: E123G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: E123G
| 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 |
possibly damaging
Transcript: ENSMUST00000151721
AA Change: E123G
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: E123G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154410
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (88/89) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J04Rik |
T |
C |
12: 11,272,141 (GRCm39) |
|
noncoding transcript |
Het |
| A930003A15Rik |
C |
T |
16: 19,702,487 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
G |
11: 9,259,130 (GRCm39) |
Y2952C |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,747 (GRCm39) |
T130A |
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,068,515 (GRCm39) |
D475E |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,761,874 (GRCm39) |
S1190G |
probably benign |
Het |
| Adgrg6 |
A |
T |
10: 14,317,243 (GRCm39) |
C526S |
probably damaging |
Het |
| Aldoc |
T |
C |
11: 78,215,947 (GRCm39) |
V151A |
probably damaging |
Het |
| Arsj |
A |
T |
3: 126,158,445 (GRCm39) |
E8V |
probably benign |
Het |
| Asph |
T |
C |
4: 9,622,005 (GRCm39) |
K167E |
possibly damaging |
Het |
| Auts2 |
G |
A |
5: 131,469,221 (GRCm39) |
P475S |
probably benign |
Het |
| C1d |
A |
G |
11: 17,212,742 (GRCm39) |
D29G |
possibly damaging |
Het |
| Calb1 |
T |
A |
4: 15,895,721 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
A |
T |
7: 16,407,391 (GRCm39) |
F42Y |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,506,202 (GRCm39) |
N188D |
possibly damaging |
Het |
| Cts6 |
A |
T |
13: 61,349,974 (GRCm39) |
Y36N |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,337,154 (GRCm39) |
K657R |
probably damaging |
Het |
| Cyp2a22 |
G |
T |
7: 26,632,916 (GRCm39) |
P429T |
probably damaging |
Het |
| Dipk2a |
T |
C |
9: 94,402,451 (GRCm39) |
N404D |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,939,244 (GRCm39) |
E168G |
possibly damaging |
Het |
| Dot1l |
A |
G |
10: 80,617,984 (GRCm39) |
N324S |
probably benign |
Het |
| Dusp13b |
A |
C |
14: 21,793,546 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
T |
A |
16: 20,500,095 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,023,301 (GRCm39) |
Y121* |
probably null |
Het |
| Foxn4 |
T |
C |
5: 114,398,991 (GRCm39) |
E80G |
possibly damaging |
Het |
| Gal3st2c |
C |
A |
1: 93,937,178 (GRCm39) |
H374Q |
possibly damaging |
Het |
| Gm973 |
A |
T |
1: 59,595,435 (GRCm39) |
I409F |
probably damaging |
Het |
| Gpr18 |
T |
A |
14: 122,149,579 (GRCm39) |
T149S |
probably damaging |
Het |
| Gsr |
A |
G |
8: 34,170,333 (GRCm39) |
E206G |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,343,301 (GRCm39) |
H515R |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,102,548 (GRCm39) |
S1277P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,286,722 (GRCm39) |
E2125G |
probably damaging |
Het |
| Ikzf4 |
A |
G |
10: 128,476,988 (GRCm39) |
C108R |
probably damaging |
Het |
| Kcnh2 |
A |
G |
5: 24,553,440 (GRCm39) |
V59A |
probably benign |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
| Kif11 |
A |
T |
19: 37,398,195 (GRCm39) |
I674L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,136,033 (GRCm39) |
C1646S |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,856,122 (GRCm39) |
I707T |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,266,141 (GRCm39) |
|
probably null |
Het |
| Mib1 |
C |
A |
18: 10,808,086 (GRCm39) |
N944K |
probably benign |
Het |
| Mical3 |
C |
A |
6: 120,938,586 (GRCm39) |
E262* |
probably null |
Het |
| Mms22l |
C |
T |
4: 24,502,792 (GRCm39) |
Q55* |
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrps11 |
T |
C |
7: 78,441,689 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
G |
11: 67,177,084 (GRCm39) |
E412G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,778,355 (GRCm39) |
D1370E |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,150,572 (GRCm39) |
V843A |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,316,383 (GRCm39) |
D213G |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,052,669 (GRCm39) |
T920A |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,469 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or6c208 |
G |
A |
10: 129,223,915 (GRCm39) |
V138M |
probably benign |
Het |
| Or8k40 |
T |
A |
2: 86,584,906 (GRCm39) |
M59L |
possibly damaging |
Het |
| Pde8b |
C |
T |
13: 95,178,447 (GRCm39) |
A566T |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,066 (GRCm39) |
S1214R |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,083,393 (GRCm39) |
I171T |
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,496,912 (GRCm39) |
V154E |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,494,458 (GRCm39) |
I1892L |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,383 (GRCm39) |
Y436C |
possibly damaging |
Het |
| Proc |
T |
A |
18: 32,260,526 (GRCm39) |
T200S |
probably benign |
Het |
| Psap |
T |
G |
10: 60,136,630 (GRCm39) |
C536W |
probably damaging |
Het |
| Ptger2 |
G |
A |
14: 45,226,471 (GRCm39) |
R17H |
possibly damaging |
Het |
| Rab42 |
A |
G |
4: 132,030,504 (GRCm39) |
F49L |
possibly damaging |
Het |
| Racgap1 |
C |
A |
15: 99,524,087 (GRCm39) |
S440I |
probably benign |
Het |
| Rdh10 |
G |
A |
1: 16,201,287 (GRCm39) |
|
probably benign |
Het |
| Rnft2 |
T |
A |
5: 118,370,471 (GRCm39) |
S244C |
probably damaging |
Het |
| Sftpc |
T |
C |
14: 70,759,718 (GRCm39) |
|
probably null |
Het |
| Shcbp1 |
A |
C |
8: 4,789,178 (GRCm39) |
V547G |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,302,104 (GRCm39) |
S229P |
probably damaging |
Het |
| Soat2 |
A |
T |
15: 102,066,144 (GRCm39) |
|
probably benign |
Het |
| Swap70 |
A |
G |
7: 109,867,079 (GRCm39) |
K294E |
probably benign |
Het |
| Tcim |
C |
A |
8: 24,928,725 (GRCm39) |
R63L |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,751,898 (GRCm39) |
V1013I |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,607,120 (GRCm39) |
M219K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,343,808 (GRCm39) |
S45P |
possibly damaging |
Het |
| Tmem59 |
A |
T |
4: 107,047,915 (GRCm39) |
|
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,029,224 (GRCm39) |
E882D |
possibly damaging |
Het |
| Tram1l1 |
T |
A |
3: 124,115,509 (GRCm39) |
M223K |
possibly damaging |
Het |
| Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,151,405 (GRCm39) |
D669E |
probably damaging |
Het |
| Vav1 |
C |
A |
17: 57,606,839 (GRCm39) |
|
probably null |
Het |
| Vcl |
A |
T |
14: 21,065,007 (GRCm39) |
E634V |
probably benign |
Het |
| Zfp672 |
A |
T |
11: 58,207,281 (GRCm39) |
C347S |
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 |
|
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 |
PCR Primer
(F):5'- CTCCATGTCAGAAGCTCAAGGTG -3'
(R):5'- AGTCACGGAAGGTCAAAGCC -3'
Sequencing Primer
(F):5'- TGGGCTCTATACCACACACTTGAG -3'
(R):5'- GCCAAACATACCTATTGCAGTCG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation