Incidental Mutation 'R7302:Nell1'
| ID |
567044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
045406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 50506017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 741
(F741L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
|
| AlphaFold |
Q2VWQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081872
AA Change: F741L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: F741L
| 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: F694L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: F694L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,306 (GRCm39) |
P69S |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,405,694 (GRCm39) |
|
probably benign |
Het |
| Bcl7a |
T |
A |
5: 123,482,757 (GRCm39) |
M22K |
probably benign |
Het |
| C6 |
T |
A |
15: 4,826,432 (GRCm39) |
C672S |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,954,738 (GRCm39) |
R133H |
probably damaging |
Het |
| Ccdc102a |
A |
G |
8: 95,640,066 (GRCm39) |
L76P |
probably damaging |
Het |
| Cfhr4 |
T |
C |
1: 139,667,436 (GRCm39) |
|
probably null |
Het |
| Cotl1 |
T |
G |
8: 120,537,040 (GRCm39) |
I125L |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,504,906 (GRCm39) |
M868K |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,136,852 (GRCm39) |
I1374T |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,386,814 (GRCm39) |
Y646C |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,593 (GRCm39) |
K762E |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,864,310 (GRCm39) |
V205A |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,009 (GRCm39) |
M229L |
probably benign |
Het |
| Fancf |
C |
A |
7: 51,511,452 (GRCm39) |
R184L |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,353,363 (GRCm39) |
E86D |
probably damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,259 (GRCm39) |
D341G |
unknown |
Het |
| Gm14410 |
A |
T |
2: 176,885,648 (GRCm39) |
H205Q |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,848,666 (GRCm39) |
N181D |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,115 (GRCm39) |
Y285C |
probably damaging |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,739 (GRCm39) |
M113V |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,701,985 (GRCm39) |
V139A |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,116,942 (GRCm39) |
Y119F |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,374,856 (GRCm39) |
R4534Q |
probably benign |
Het |
| Mbd3l2 |
G |
A |
9: 18,355,738 (GRCm39) |
S21N |
probably benign |
Het |
| Mob1b |
A |
G |
5: 88,901,036 (GRCm39) |
N148D |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,904,548 (GRCm39) |
D195E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,687 (GRCm39) |
S50P |
probably benign |
Het |
| Nectin4 |
G |
T |
1: 171,214,203 (GRCm39) |
E453* |
probably null |
Het |
| Ntng1 |
T |
A |
3: 109,739,933 (GRCm39) |
H369L |
possibly damaging |
Het |
| Plin4 |
T |
A |
17: 56,409,330 (GRCm39) |
M1297L |
probably benign |
Het |
| Pnp |
G |
A |
14: 51,188,404 (GRCm39) |
V193M |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,241,773 (GRCm39) |
S849R |
unknown |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,012 (GRCm39) |
E981G |
unknown |
Het |
| Sbsn |
T |
C |
7: 30,451,309 (GRCm39) |
F108S |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,636,017 (GRCm39) |
M310T |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,055,949 (GRCm39) |
S97P |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,525 (GRCm39) |
V313A |
probably benign |
Het |
| Slc25a10 |
G |
T |
11: 120,382,782 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,806,828 (GRCm39) |
V705E |
possibly damaging |
Het |
| Surf2 |
G |
T |
2: 26,808,894 (GRCm39) |
C116F |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,698 (GRCm39) |
I175T |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,897,875 (GRCm39) |
T841I |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,246 (GRCm39) |
D693G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,393,973 (GRCm39) |
L64P |
probably damaging |
Het |
| Vmn1r77 |
C |
T |
7: 11,775,983 (GRCm39) |
S253F |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,423 (GRCm39) |
M512T |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,800,036 (GRCm39) |
G89D |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,205 (GRCm39) |
Y825N |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,252 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,297,942 (GRCm39) |
F1916I |
probably 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 |
|
|
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 |
|
R7051:Nell1
|
UTSW |
7 |
50,098,592 (GRCm39) |
missense |
unknown |
|
|
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'- ATCTTCACAGAGGAGGATGGATC -3'
(R):5'- CAGGGCTGATGGTTACCTTG -3'
Sequencing Primer
(F):5'- ATACACATTAGGGTTCCGGC -3'
(R):5'- ACCTTGCATTGACAGGTTGTACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation