Incidental Mutation 'R4942:Nell1'
| ID |
383191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49770397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| 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: V152A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: V152A
| 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: V152A
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: V152A
| 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: V152A
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: V152A
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| Adamts7 |
T |
C |
9: 90,045,364 (GRCm39) |
S23P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,259,451 (GRCm39) |
C824* |
probably null |
Het |
| Adgre1 |
A |
G |
17: 57,713,903 (GRCm39) |
Y196C |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,051,009 (GRCm39) |
D542G |
possibly damaging |
Het |
| B3gat1 |
A |
G |
9: 26,666,894 (GRCm39) |
D42G |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,930,045 (GRCm39) |
A2412T |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,122,232 (GRCm39) |
R420G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,983,678 (GRCm39) |
Y3459H |
unknown |
Het |
| Cacnb1 |
T |
C |
11: 97,893,809 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cdk2ap2 |
G |
A |
19: 4,147,508 (GRCm39) |
|
probably null |
Het |
| Cep57 |
A |
G |
9: 13,724,723 (GRCm39) |
S265P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,710,524 (GRCm39) |
I893T |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,263 (GRCm39) |
E491V |
probably damaging |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cobl |
A |
T |
11: 12,204,185 (GRCm39) |
I832N |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,910,316 (GRCm39) |
V487A |
possibly damaging |
Het |
| Cse1l |
C |
T |
2: 166,771,714 (GRCm39) |
T325I |
probably damaging |
Het |
| Dlx6 |
A |
G |
6: 6,863,468 (GRCm39) |
Q30R |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,948,116 (GRCm39) |
V1902A |
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,635,965 (GRCm39) |
F542L |
possibly damaging |
Het |
| Emid1 |
T |
G |
11: 5,079,430 (GRCm39) |
M323L |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,125 (GRCm39) |
D886G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,730,649 (GRCm39) |
E461G |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,225,536 (GRCm39) |
C572F |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,811,556 (GRCm39) |
H714R |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,428,391 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lypd6b |
C |
A |
2: 49,836,132 (GRCm39) |
H104Q |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,586 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
T |
4: 154,338,277 (GRCm39) |
D449V |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,556,599 (GRCm39) |
V1003A |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,552,944 (GRCm39) |
W1096L |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,133 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,547 (GRCm39) |
E171G |
possibly damaging |
Het |
| Nherf4 |
C |
A |
9: 44,159,915 (GRCm39) |
G402* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,198,673 (GRCm39) |
V255E |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,928 (GRCm39) |
F27Y |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,375 (GRCm39) |
M1L |
probably null |
Het |
| Or52h7 |
A |
G |
7: 104,214,212 (GRCm39) |
I261M |
probably benign |
Het |
| Or52z14 |
G |
A |
7: 103,253,401 (GRCm39) |
R180H |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,407,171 (GRCm39) |
I50T |
probably damaging |
Het |
| P2ry13 |
G |
A |
3: 59,116,983 (GRCm39) |
T265I |
probably benign |
Het |
| Pde4d |
A |
G |
13: 108,996,733 (GRCm39) |
S12G |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,154 (GRCm39) |
N219K |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,509 (GRCm39) |
|
probably null |
Het |
| Psd2 |
A |
T |
18: 36,111,717 (GRCm39) |
D114V |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,672,884 (GRCm39) |
I770N |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,524,290 (GRCm39) |
M481K |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,078,814 (GRCm39) |
M45R |
probably damaging |
Het |
| Rpsa |
T |
A |
9: 119,960,129 (GRCm39) |
W231R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,998 (GRCm39) |
T2797N |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,666,602 (GRCm39) |
M1468K |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,137,589 (GRCm39) |
Y244H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,009,049 (GRCm39) |
D462V |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,864,917 (GRCm39) |
E688D |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,737 (GRCm39) |
I181N |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,791,836 (GRCm39) |
F1785L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,752,811 (GRCm39) |
D2174E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,623,600 (GRCm39) |
V15326I |
probably damaging |
Het |
| Ubap2 |
T |
A |
4: 41,245,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
C |
T |
17: 23,177,321 (GRCm39) |
P702S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,980 (GRCm39) |
W142R |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,582 (GRCm39) |
Y459H |
probably damaging |
Het |
| Wsb2 |
C |
T |
5: 117,515,550 (GRCm39) |
T385M |
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 |
|
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'- CCACACACTTGAGTTCAGGTC -3'
(R):5'- GGCCCATTCAGTAGGTTAAATGAC -3'
Sequencing Primer
(F):5'- CACACTTGAGTTCAGGTCATGGC -3'
(R):5'- AATGACAATTAAGGTTTTGGTGTAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation