Incidental Mutation 'R2261:Nell1'
| ID |
243797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
040261-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50210569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 494
(T494I)
|
| 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: T494I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: T494I
| 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 |
possibly damaging
Transcript: ENSMUST00000107603
AA Change: T494I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: T494I
| 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: ENSMUST00000134584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136672
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151721
AA Change: P357S
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: P357S
| 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: ENSMUST00000152166
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,288 (GRCm39) |
M1384L |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,790,474 (GRCm39) |
T572A |
unknown |
Het |
| Arhgap31 |
T |
A |
16: 38,429,639 (GRCm39) |
Q412L |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
| Bco1 |
T |
C |
8: 117,859,764 (GRCm39) |
L489S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,961 (GRCm39) |
H709L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,652,139 (GRCm39) |
T2A |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,013,556 (GRCm39) |
R40L |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,152,907 (GRCm39) |
V2372A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,047,820 (GRCm39) |
S56T |
possibly damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,191 (GRCm39) |
M142K |
probably damaging |
Het |
| Cfap69 |
C |
A |
5: 5,646,018 (GRCm39) |
V561F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
| Dnajc3 |
A |
G |
14: 119,198,232 (GRCm39) |
Q118R |
probably damaging |
Het |
| Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,523,666 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,016,098 (GRCm39) |
|
probably null |
Het |
| Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
| Gbp2b |
G |
A |
3: 142,312,496 (GRCm39) |
S293N |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,163,999 (GRCm39) |
Q433R |
possibly damaging |
Het |
| Gm12874 |
G |
A |
4: 122,487,533 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
T |
A |
16: 36,713,722 (GRCm39) |
F234L |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,489 (GRCm39) |
V385M |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,934,715 (GRCm39) |
|
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,650,109 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,346 (GRCm39) |
V30A |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,042,871 (GRCm39) |
Q1045L |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
| Or5d40 |
T |
A |
2: 88,015,965 (GRCm39) |
I248N |
probably damaging |
Het |
| Otub1 |
T |
A |
19: 7,176,861 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,346,184 (GRCm39) |
V778A |
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,370,043 (GRCm39) |
E29K |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,603 (GRCm39) |
N1468S |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,383,673 (GRCm39) |
S87G |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,397,212 (GRCm39) |
D109N |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,048,394 (GRCm39) |
R260G |
possibly damaging |
Het |
| Slk |
T |
C |
19: 47,625,791 (GRCm39) |
I1090T |
probably damaging |
Het |
| Spr-ps1 |
G |
T |
6: 85,132,945 (GRCm39) |
|
noncoding transcript |
Het |
| Ssh1 |
T |
C |
5: 114,080,764 (GRCm39) |
S867G |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,915,796 (GRCm39) |
C814S |
probably damaging |
Het |
| Stmn2 |
T |
C |
3: 8,606,955 (GRCm39) |
F25S |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,826,053 (GRCm39) |
I200V |
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,323,672 (GRCm39) |
Y397H |
probably damaging |
Het |
| Tmem184c |
T |
C |
8: 78,323,804 (GRCm39) |
T353A |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,757 (GRCm39) |
H406R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,140,773 (GRCm39) |
S1231P |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 37,988,528 (GRCm39) |
D2143E |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,464,090 (GRCm39) |
N248S |
probably benign |
Het |
| Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,873 (GRCm39) |
L397Q |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,165,719 (GRCm39) |
E681K |
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 |
|
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'- ACCAACACCGTGATTGAGAATC -3'
(R):5'- ATGTTCAGCTCCCATAGTGAC -3'
Sequencing Primer
(F):5'- TGCTAGAATCAAAGGCATCATTCAC -3'
(R):5'- TGTTCAGCTCCCATAGTGACAACAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation