Incidental Mutation 'R8340:Nell1'
| ID |
644837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
067864-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49870021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 232
(D232E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
[ENSMUST00000151721]
|
| AlphaFold |
Q2VWQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081872
AA Change: D232E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: D232E
| 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 damaging
Transcript: ENSMUST00000107603
AA Change: D232E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: D232E
| 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 |
probably damaging
Transcript: ENSMUST00000151721
AA Change: D232E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: D232E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
C |
T |
7: 81,435,839 (GRCm39) |
V91M |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,044,435 (GRCm39) |
V57A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
| Armc6 |
T |
G |
8: 70,673,502 (GRCm39) |
N407T |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,670 (GRCm39) |
V484A |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,202,476 (GRCm39) |
V716A |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,670,013 (GRCm39) |
E550G |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,070,297 (GRCm39) |
S512P |
possibly damaging |
Het |
| Chac2 |
C |
G |
11: 30,927,511 (GRCm39) |
G136A |
probably damaging |
Het |
| Crhr2 |
C |
T |
6: 55,079,831 (GRCm39) |
V170M |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,060,831 (GRCm39) |
D104V |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,924,408 (GRCm39) |
S402C |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,876,856 (GRCm39) |
I4099V |
unknown |
Het |
| Etv3 |
A |
G |
3: 87,443,856 (GRCm39) |
D480G |
possibly damaging |
Het |
| Fam186b |
A |
T |
15: 99,177,595 (GRCm39) |
I577K |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,437 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Gsdma |
T |
A |
11: 98,557,421 (GRCm39) |
V120E |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,234,946 (GRCm39) |
S153R |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,616,688 (GRCm39) |
I105N |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,042,257 (GRCm39) |
E3D |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,409,878 (GRCm39) |
R172L |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Nemf |
T |
G |
12: 69,400,659 (GRCm39) |
T139P |
possibly damaging |
Het |
| Nrdc |
A |
C |
4: 108,858,351 (GRCm39) |
K108Q |
probably damaging |
Het |
| Or10c1 |
G |
T |
17: 37,522,075 (GRCm39) |
T223N |
possibly damaging |
Het |
| Or14j3 |
T |
C |
17: 37,901,034 (GRCm39) |
D70G |
probably damaging |
Het |
| Or3a10 |
G |
T |
11: 73,935,851 (GRCm39) |
P83Q |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,613,851 (GRCm39) |
S599P |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,130 (GRCm39) |
N224S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,118 (GRCm39) |
S28P |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,224 (GRCm39) |
S481P |
unknown |
Het |
| Scrn1 |
G |
A |
6: 54,511,518 (GRCm39) |
A74V |
possibly damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,086 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,127,102 (GRCm39) |
D592G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,036 (GRCm39) |
N915D |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,458 (GRCm39) |
K1109* |
probably null |
Het |
| Tsks |
C |
T |
7: 44,602,144 (GRCm39) |
R287W |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,860,630 (GRCm39) |
M456L |
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,712,031 (GRCm39) |
V668A |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,511 (GRCm39) |
Q571L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,006 (GRCm39) |
D230E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,829,972 (GRCm39) |
G60S |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,217,036 (GRCm39) |
D456G |
probably benign |
Het |
| Zfp738 |
A |
C |
13: 67,819,231 (GRCm39) |
H253Q |
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 |
|
|
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 |
|
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'- AACAGTGTTAGGAACAGAAATCCTC -3'
(R):5'- CAATGGTTGTGTTACTACGGGC -3'
Sequencing Primer
(F):5'- AGAAATCCTCTGTCATTTCCCTC -3'
(R):5'- ACGGGCAGTCTCATTTCAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation