Incidental Mutation 'R8191:Nell1'
| ID |
635158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
067614-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8191 (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 C
at 50098622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 308
(V308A)
|
| 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: V308A
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: V308A
| 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: 99.5%
- 20x: 98.4%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
G |
A |
16: 3,724,918 (GRCm39) |
R49W |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,080,292 (GRCm39) |
S282P |
|
Het |
| Aqp4 |
A |
G |
18: 15,531,222 (GRCm39) |
S180P |
probably benign |
Het |
| Armc2 |
T |
G |
10: 41,839,747 (GRCm39) |
E406A |
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,168,598 (GRCm39) |
Y464N |
probably damaging |
Het |
| B3gnt3 |
C |
A |
8: 72,146,122 (GRCm39) |
V136L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,035,893 (GRCm39) |
H1378Y |
probably damaging |
Het |
| Ccnk |
A |
T |
12: 108,159,933 (GRCm39) |
E138D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,957,375 (GRCm39) |
K1878E |
probably benign |
Het |
| Cep57l1 |
T |
A |
10: 41,616,955 (GRCm39) |
I111L |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,727,889 (GRCm39) |
N100K |
probably damaging |
Het |
| Copg2 |
T |
C |
6: 30,790,665 (GRCm39) |
I509V |
probably benign |
Het |
| Cux2 |
T |
A |
5: 122,012,217 (GRCm39) |
D406V |
probably benign |
Het |
| Cyp2a12 |
G |
T |
7: 26,730,529 (GRCm39) |
A165S |
probably benign |
Het |
| Dnaaf5 |
T |
G |
5: 139,167,250 (GRCm39) |
S719A |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,646,618 (GRCm39) |
I1220V |
possibly damaging |
Het |
| Dnai3 |
G |
T |
3: 145,800,066 (GRCm39) |
P158H |
probably damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,769,749 (GRCm39) |
D238E |
possibly damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,538,253 (GRCm39) |
D203E |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,872,587 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,075,283 (GRCm39) |
S587P |
probably damaging |
Het |
| Ephb2 |
G |
A |
4: 136,386,256 (GRCm39) |
T832I |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,707,674 (GRCm39) |
|
probably null |
Het |
| Fam193a |
T |
A |
5: 34,597,917 (GRCm39) |
N571K |
probably damaging |
Het |
| Fem1a |
T |
A |
17: 56,565,356 (GRCm39) |
I483N |
probably damaging |
Het |
| Fgf20 |
C |
A |
8: 40,761,361 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
C |
T |
2: 151,399,356 (GRCm39) |
P98S |
|
Het |
| Gpsm3 |
A |
T |
17: 34,809,451 (GRCm39) |
D19V |
probably benign |
Het |
| Ido2 |
C |
A |
8: 25,023,696 (GRCm39) |
G381W |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,226 (GRCm39) |
T540A |
possibly damaging |
Het |
| Isl1 |
A |
T |
13: 116,441,954 (GRCm39) |
M93K |
probably benign |
Het |
| Map3k10 |
T |
A |
7: 27,362,671 (GRCm39) |
S472C |
probably damaging |
Het |
| Mcrs1 |
A |
T |
15: 99,141,206 (GRCm39) |
V432E |
probably damaging |
Het |
| Metap2 |
A |
G |
10: 93,701,267 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,421,421 (GRCm39) |
S4304G |
probably benign |
Het |
| Myef2l |
G |
T |
3: 10,153,914 (GRCm39) |
V228F |
probably damaging |
Het |
| Or10g1b |
A |
G |
14: 52,627,987 (GRCm39) |
V81A |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,767 (GRCm39) |
H6Q |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,592,382 (GRCm39) |
S1224P |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,200,172 (GRCm39) |
E261G |
possibly damaging |
Het |
| Robo1 |
C |
A |
16: 72,730,142 (GRCm39) |
S194R |
probably damaging |
Het |
| Rpusd1 |
C |
G |
17: 25,947,611 (GRCm39) |
Y99* |
probably null |
Het |
| Scarf1 |
T |
C |
11: 75,413,065 (GRCm39) |
M437T |
probably benign |
Het |
| Sh3tc2 |
G |
T |
18: 62,106,429 (GRCm39) |
D153Y |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,927,599 (GRCm39) |
Y69C |
probably damaging |
Het |
| Slc25a34 |
T |
C |
4: 141,347,895 (GRCm39) |
Y262C |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,572,748 (GRCm39) |
Y236C |
probably damaging |
Het |
| Stac3 |
T |
A |
10: 127,344,068 (GRCm39) |
I322N |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,652,190 (GRCm39) |
Q764R |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,606 (GRCm39) |
R1282* |
probably null |
Het |
| Tlr2 |
T |
A |
3: 83,743,821 (GRCm39) |
K754M |
probably damaging |
Het |
| Tlr2 |
T |
G |
3: 83,743,822 (GRCm39) |
K754Q |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,953,088 (GRCm39) |
V651M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,701,083 (GRCm39) |
H9622R |
unknown |
Het |
| Tubgcp6 |
C |
T |
15: 89,004,843 (GRCm39) |
G259S |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,006,751 (GRCm39) |
C1174F |
|
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Vit |
C |
T |
17: 78,853,828 (GRCm39) |
H25Y |
probably benign |
Het |
| Vmn1r177 |
G |
A |
7: 23,565,736 (GRCm39) |
Q47* |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,465 (GRCm39) |
V602D |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,578,530 (GRCm39) |
T668A |
probably damaging |
Het |
| Vmn2r125 |
T |
G |
4: 156,703,709 (GRCm39) |
C362W |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,238,712 (GRCm39) |
T267A |
probably damaging |
Het |
| Xpa |
C |
A |
4: 46,183,225 (GRCm39) |
R188L |
possibly damaging |
Het |
| Zfp143 |
C |
T |
7: 109,676,364 (GRCm39) |
T249I |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,578,868 (GRCm39) |
E646G |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,769,838 (GRCm39) |
S130R |
probably benign |
Het |
| Zswim3 |
C |
A |
2: 164,662,128 (GRCm39) |
Q203K |
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 |
|
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'- TCAGAATGGGTTGCAGTGC -3'
(R):5'- GGTGAATAGCAGGACTGTATGC -3'
Sequencing Primer
(F):5'- AGTGCACCAACTGGCTTTG -3'
(R):5'- GCAGGACTGTATGCGTGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation