Incidental Mutation 'R0483:Nell1'
ID |
42117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nell1
|
Ensembl Gene |
ENSMUSG00000055409 |
Gene Name |
NEL-like 1 |
Synonyms |
l7R6, B230343H07Rik |
MMRRC Submission |
038683-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0483 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49879928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 307
(M307L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
[ENSMUST00000151721]
|
AlphaFold |
Q2VWQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081872
AA Change: M307L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000080550 Gene: ENSMUSG00000055409 AA Change: M307L
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: M307L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000103229 Gene: ENSMUSG00000055409 AA Change: M307L
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 |
probably benign
Transcript: ENSMUST00000151721
|
SMART Domains |
Protein: ENSMUSP00000114706 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154410
|
Meta Mutation Damage Score |
0.1211 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
99% (89/90) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500009L16Rik |
G |
A |
10: 83,595,502 (GRCm39) |
|
probably benign |
Het |
1700048O20Rik |
A |
T |
9: 121,769,769 (GRCm39) |
|
noncoding transcript |
Het |
AA986860 |
A |
G |
1: 130,671,562 (GRCm39) |
R595G |
probably damaging |
Het |
Acrbp |
C |
A |
6: 125,031,759 (GRCm39) |
F353L |
possibly damaging |
Het |
Adamts20 |
T |
A |
15: 94,251,452 (GRCm39) |
Q445L |
probably benign |
Het |
Adgrg5 |
A |
G |
8: 95,660,136 (GRCm39) |
D26G |
possibly damaging |
Het |
Atad2b |
A |
T |
12: 4,995,035 (GRCm39) |
|
probably benign |
Het |
Atg2a |
G |
T |
19: 6,306,631 (GRCm39) |
G1439C |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,306,632 (GRCm39) |
G1439V |
probably benign |
Het |
B3galt1 |
G |
A |
2: 67,948,932 (GRCm39) |
V216I |
probably benign |
Het |
Bmerb1 |
T |
C |
16: 13,913,803 (GRCm39) |
*113R |
probably null |
Het |
C2cd2 |
A |
G |
16: 97,660,788 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,564,025 (GRCm39) |
V884M |
probably damaging |
Het |
Cers5 |
C |
A |
15: 99,643,795 (GRCm39) |
C22F |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,924,307 (GRCm39) |
C14F |
probably benign |
Het |
Cntn3 |
G |
T |
6: 102,180,927 (GRCm39) |
P756Q |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,286,423 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,693,777 (GRCm39) |
|
probably null |
Het |
Cox5b |
G |
A |
1: 36,731,636 (GRCm39) |
|
probably null |
Het |
Cwc27 |
C |
A |
13: 104,947,724 (GRCm39) |
|
probably null |
Het |
Cyp27b1 |
A |
C |
10: 126,886,026 (GRCm39) |
M260L |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,735,310 (GRCm39) |
N465K |
probably benign |
Het |
Depdc1b |
T |
C |
13: 108,510,382 (GRCm39) |
V298A |
probably benign |
Het |
Dnaaf1 |
A |
G |
8: 120,317,405 (GRCm39) |
I311M |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,937,950 (GRCm39) |
N3372S |
probably benign |
Het |
Dus4l |
G |
A |
12: 31,691,656 (GRCm39) |
T184I |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,768,076 (GRCm39) |
K453E |
possibly damaging |
Het |
Fhod3 |
C |
T |
18: 24,842,673 (GRCm39) |
T3M |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,672,048 (GRCm39) |
L446P |
probably damaging |
Het |
Gfod1 |
T |
A |
13: 43,354,012 (GRCm39) |
D321V |
possibly damaging |
Het |
Glt8d2 |
C |
A |
10: 82,497,987 (GRCm39) |
|
probably benign |
Het |
Gm11115 |
A |
G |
5: 88,301,948 (GRCm39) |
M4T |
unknown |
Het |
Gm11568 |
G |
A |
11: 99,749,209 (GRCm39) |
C138Y |
unknown |
Het |
Gm57859 |
C |
T |
11: 113,580,021 (GRCm39) |
T472I |
possibly damaging |
Het |
Gm9742 |
A |
G |
13: 8,085,052 (GRCm39) |
|
noncoding transcript |
Het |
Gnrhr |
G |
T |
5: 86,345,434 (GRCm39) |
T84N |
probably damaging |
Het |
Gpr176 |
C |
A |
2: 118,110,204 (GRCm39) |
G352W |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,304,864 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Inpp5j |
C |
G |
11: 3,449,738 (GRCm39) |
W681C |
probably damaging |
Het |
Insl6 |
A |
G |
19: 29,298,968 (GRCm39) |
M148T |
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,452,648 (GRCm39) |
M771R |
possibly damaging |
Het |
Kank1 |
G |
T |
19: 25,403,357 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,366,942 (GRCm39) |
Y271H |
probably damaging |
Het |
Kcnq4 |
C |
A |
4: 120,573,798 (GRCm39) |
R221L |
probably damaging |
Het |
Klk1b26 |
G |
A |
7: 43,665,772 (GRCm39) |
V195I |
probably benign |
Het |
Lactb |
A |
C |
9: 66,878,145 (GRCm39) |
V228G |
possibly damaging |
Het |
Ldb3 |
T |
C |
14: 34,258,541 (GRCm39) |
D649G |
probably damaging |
Het |
Lilra6 |
T |
A |
7: 3,916,138 (GRCm39) |
R240S |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,338,145 (GRCm39) |
Y1212H |
probably damaging |
Het |
Mapk8ip1 |
A |
T |
2: 92,216,321 (GRCm39) |
|
probably null |
Het |
Mctp1 |
C |
T |
13: 76,975,846 (GRCm39) |
L483F |
probably damaging |
Het |
Mmp16 |
T |
C |
4: 18,115,878 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,445,033 (GRCm39) |
L360* |
probably null |
Het |
Myh4 |
A |
G |
11: 67,143,123 (GRCm39) |
E1017G |
probably damaging |
Het |
Or10al3 |
C |
T |
17: 38,012,188 (GRCm39) |
A209V |
probably benign |
Het |
Or10d1 |
A |
C |
9: 39,484,139 (GRCm39) |
C139G |
probably damaging |
Het |
Or5m11 |
A |
G |
2: 85,781,587 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8k35 |
A |
G |
2: 86,424,752 (GRCm39) |
V140A |
probably benign |
Het |
Phc2 |
A |
G |
4: 128,617,100 (GRCm39) |
|
probably benign |
Het |
Pp2d1 |
C |
A |
17: 53,814,999 (GRCm39) |
C575F |
probably benign |
Het |
Ptpra |
T |
A |
2: 130,381,605 (GRCm39) |
N364K |
probably damaging |
Het |
R3hcc1l |
A |
G |
19: 42,550,995 (GRCm39) |
|
probably benign |
Het |
Rims1 |
A |
G |
1: 22,507,263 (GRCm39) |
|
probably benign |
Het |
Shank3 |
G |
A |
15: 89,427,442 (GRCm39) |
|
probably benign |
Het |
Sit1 |
T |
A |
4: 43,482,991 (GRCm39) |
Q86L |
possibly damaging |
Het |
Skint4 |
C |
A |
4: 111,975,136 (GRCm39) |
|
probably benign |
Het |
Skint8 |
G |
T |
4: 111,796,020 (GRCm39) |
|
probably benign |
Het |
Smim13 |
T |
C |
13: 41,426,186 (GRCm39) |
I74T |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
Spmap2l |
A |
G |
5: 77,185,204 (GRCm39) |
|
probably benign |
Het |
Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
Synpo2 |
T |
C |
3: 122,907,981 (GRCm39) |
D445G |
probably damaging |
Het |
Tas2r102 |
A |
T |
6: 132,739,328 (GRCm39) |
I79F |
probably damaging |
Het |
Tmc4 |
A |
G |
7: 3,670,609 (GRCm39) |
L494P |
probably damaging |
Het |
Togaram1 |
G |
T |
12: 65,053,805 (GRCm39) |
V1412F |
probably damaging |
Het |
Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
Trappc8 |
T |
A |
18: 20,978,658 (GRCm39) |
I813F |
possibly damaging |
Het |
Trim26 |
T |
C |
17: 37,163,598 (GRCm39) |
|
probably benign |
Het |
Unc13a |
T |
C |
8: 72,097,557 (GRCm39) |
D1171G |
probably damaging |
Het |
Usp7 |
A |
G |
16: 8,517,126 (GRCm39) |
V245A |
probably damaging |
Het |
Vmn1r38 |
T |
A |
6: 66,753,979 (GRCm39) |
T46S |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
Zcchc14 |
T |
A |
8: 122,355,388 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,809,991 (GRCm39) |
|
probably benign |
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 |
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 |
|
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'- TTAGTCCACATGGGCAGGTGGATG -3'
(R):5'- GTTAGTTGGGTCCCGAAACAGAGG -3'
Sequencing Primer
(F):5'- AGGTCACATAGGTTCATTCCGAC -3'
(R):5'- TCCCGAAACAGAGGGAAATAACTC -3'
|
Posted On |
2013-05-23 |