Incidental Mutation 'R9095:Nell1'
| ID |
691288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
068910-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9095 (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 C
at 50506150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 786
(S786P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
|
| AlphaFold |
Q2VWQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081872
AA Change: S786P
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: S786P
| 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: S739P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: S739P
| 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: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,500,370 (GRCm39) |
V1274M |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,556 (GRCm39) |
H2202R |
possibly damaging |
Het |
| Ablim3 |
A |
G |
18: 61,953,463 (GRCm39) |
L350P |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,654,117 (GRCm39) |
T449I |
probably damaging |
Het |
| Ankrd39 |
T |
A |
1: 36,586,241 (GRCm39) |
D9V |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,835,819 (GRCm39) |
V192A |
probably damaging |
Het |
| Art4 |
C |
T |
6: 136,834,269 (GRCm39) |
|
probably benign |
Het |
| Atg4a-ps |
A |
T |
3: 103,553,254 (GRCm39) |
V29E |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,949,466 (GRCm39) |
K1574* |
probably null |
Het |
| Cfap54 |
T |
G |
10: 92,846,882 (GRCm39) |
T1028P |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,532,254 (GRCm39) |
R517H |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,914,665 (GRCm39) |
T94A |
probably benign |
Het |
| Cpne1 |
T |
A |
2: 155,918,210 (GRCm39) |
|
probably null |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,213 (GRCm39) |
Y138F |
probably benign |
Het |
| Cyp2f2 |
T |
A |
7: 26,830,667 (GRCm39) |
M346K |
possibly damaging |
Het |
| D130040H23Rik |
AAGAATATATTCTACAGAATATA |
AAGAATATA |
8: 69,755,748 (GRCm39) |
|
probably null |
Het |
| Ddi2 |
T |
A |
4: 141,419,590 (GRCm39) |
I387F |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,523,282 (GRCm39) |
N103S |
probably damaging |
Het |
| Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,156,666 (GRCm39) |
I1464V |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,044,012 (GRCm39) |
Y314C |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,782,964 (GRCm39) |
E675G |
probably damaging |
Het |
| Fam114a1 |
A |
C |
5: 65,188,733 (GRCm39) |
I488L |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,647,149 (GRCm39) |
I1547S |
probably null |
Het |
| Garre1 |
A |
T |
7: 33,956,770 (GRCm39) |
|
probably null |
Het |
| Get1 |
T |
A |
16: 95,954,244 (GRCm39) |
|
probably benign |
Het |
| Gm14305 |
T |
A |
2: 176,413,045 (GRCm39) |
Y312* |
probably null |
Het |
| Golm2 |
T |
A |
2: 121,756,096 (GRCm39) |
L375Q |
probably damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,641 (GRCm39) |
T119A |
possibly damaging |
Het |
| Harbi1 |
T |
G |
2: 91,542,980 (GRCm39) |
V147G |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ighv13-2 |
C |
A |
12: 114,321,494 (GRCm39) |
A82S |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,364,352 (GRCm39) |
D827E |
probably benign |
Het |
| Krtap4-2 |
C |
T |
11: 99,525,801 (GRCm39) |
G17D |
unknown |
Het |
| Ly6a |
A |
T |
15: 74,867,333 (GRCm39) |
|
probably benign |
Het |
| Mad1l1 |
C |
T |
5: 140,288,741 (GRCm39) |
E203K |
probably damaging |
Het |
| Mapk14 |
C |
A |
17: 28,934,413 (GRCm39) |
D101E |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,917,764 (GRCm39) |
G306W |
probably damaging |
Het |
| Mixl1 |
T |
C |
1: 180,524,402 (GRCm39) |
D59G |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,254,293 (GRCm39) |
V2364M |
probably damaging |
Het |
| Or13a25 |
T |
G |
7: 140,247,813 (GRCm39) |
N197K |
probably damaging |
Het |
| Or51e2 |
C |
A |
7: 102,391,473 (GRCm39) |
V246L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,687 (GRCm39) |
L228P |
probably damaging |
Het |
| Or5b107 |
T |
G |
19: 13,143,310 (GRCm39) |
S311A |
probably benign |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,052 (GRCm39) |
D374V |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,386 (GRCm39) |
I294T |
probably benign |
Het |
| Plekha4 |
C |
T |
7: 45,190,492 (GRCm39) |
A400V |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,341,760 (GRCm39) |
F63S |
probably damaging |
Het |
| Pramel4 |
C |
A |
4: 143,794,928 (GRCm39) |
D441E |
probably benign |
Het |
| Prr12 |
G |
A |
7: 44,695,267 (GRCm39) |
P1400S |
unknown |
Het |
| Prss3b |
T |
A |
6: 41,010,038 (GRCm39) |
N99Y |
possibly damaging |
Het |
| Rbm6 |
G |
A |
9: 107,669,089 (GRCm39) |
Q608* |
probably null |
Het |
| Scamp1 |
T |
A |
13: 94,369,598 (GRCm39) |
I76F |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sirt1 |
A |
T |
10: 63,158,077 (GRCm39) |
S446T |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,019,404 (GRCm39) |
K336R |
probably benign |
Het |
| Spag17 |
G |
T |
3: 99,912,092 (GRCm39) |
V321F |
possibly damaging |
Het |
| Sstr1 |
A |
G |
12: 58,259,620 (GRCm39) |
Y81C |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,519,525 (GRCm39) |
K321R |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,584 (GRCm39) |
F242S |
probably damaging |
Het |
| Tanc2 |
T |
G |
11: 105,758,104 (GRCm39) |
S622A |
probably benign |
Het |
| Tcf4 |
G |
A |
18: 69,598,464 (GRCm39) |
D106N |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,433,571 (GRCm39) |
I75N |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,187,509 (GRCm39) |
W125* |
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,952,745 (GRCm39) |
T1530A |
possibly damaging |
Het |
| Tmem132a |
T |
A |
19: 10,844,412 (GRCm39) |
H62L |
probably benign |
Het |
| Tmem89 |
T |
C |
9: 108,743,729 (GRCm39) |
S10P |
unknown |
Het |
| Trrap |
C |
T |
5: 144,733,961 (GRCm39) |
P938L |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,545,912 (GRCm39) |
P488T |
probably damaging |
Het |
| Uri1 |
C |
A |
7: 37,662,873 (GRCm39) |
G374C |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,644 (GRCm39) |
T772K |
probably benign |
Het |
| Zbtb37 |
A |
T |
1: 160,847,941 (GRCm39) |
Y355* |
probably null |
Het |
| Zfp3 |
A |
G |
11: 70,662,405 (GRCm39) |
I121M |
probably benign |
Het |
| Zfp629 |
A |
T |
7: 127,209,547 (GRCm39) |
L754Q |
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 |
|
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 |
|
|
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'- CATCTTTCTCTCCACAGGAAGG -3'
(R):5'- GGCAAATTTGTATTACTCCACGTCC -3'
Sequencing Primer
(F):5'- AGACTGCTGGCCTCTAGCTTG -3'
(R):5'- CCATTTGGAAACTGCCTTTATACGAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation