Incidental Mutation 'R9422:Nell1'
| ID |
712378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 49712387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 69
(S69*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
[ENSMUST00000151721]
|
| AlphaFold |
Q2VWQ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081872
AA Change: S69*
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: S69*
| 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 null
Transcript: ENSMUST00000107603
AA Change: S69*
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: S69*
| 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 |
probably null
Transcript: ENSMUST00000151721
AA Change: S69*
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: S69*
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,667,153 (GRCm39) |
V209I |
|
Het |
| Adamts18 |
T |
A |
8: 114,501,910 (GRCm39) |
Y317F |
probably damaging |
Het |
| Adgrg6 |
C |
T |
10: 14,302,740 (GRCm39) |
R863H |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,890,505 (GRCm39) |
K55N |
unknown |
Het |
| B3galnt2 |
A |
G |
13: 14,150,136 (GRCm39) |
T160A |
probably benign |
Het |
| Becn1 |
C |
A |
11: 101,192,832 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,764,444 (GRCm39) |
N777S |
possibly damaging |
Het |
| Cd302 |
T |
C |
2: 60,082,697 (GRCm39) |
Y209C |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,699,851 (GRCm39) |
V63A |
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,390,257 (GRCm39) |
I147N |
possibly damaging |
Het |
| Cmtm3 |
A |
T |
8: 105,067,358 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
G |
T |
8: 105,067,359 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,293,364 (GRCm39) |
|
probably null |
Het |
| Csn3 |
A |
G |
5: 88,077,872 (GRCm39) |
N126S |
probably benign |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,170,691 (GRCm39) |
H729Q |
possibly damaging |
Het |
| Dop1a |
C |
T |
9: 86,425,093 (GRCm39) |
H2138Y |
probably damaging |
Het |
| Fbxo2 |
T |
C |
4: 148,248,616 (GRCm39) |
L36P |
unknown |
Het |
| Gzmg |
T |
A |
14: 56,395,812 (GRCm39) |
Y49F |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,930,940 (GRCm39) |
I55V |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,313,213 (GRCm39) |
T1818A |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,212,550 (GRCm39) |
S171P |
possibly damaging |
Het |
| Milr1 |
T |
A |
11: 106,657,805 (GRCm39) |
Y239N |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,553,102 (GRCm39) |
N4397S |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,859,918 (GRCm39) |
V234A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,054,668 (GRCm39) |
S2444G |
probably damaging |
Het |
| Odad3 |
T |
A |
9: 21,913,628 (GRCm39) |
H48L |
possibly damaging |
Het |
| Or5p75-ps1 |
A |
T |
7: 108,108,155 (GRCm39) |
K297N |
unknown |
Het |
| Or7g35 |
T |
A |
9: 19,495,968 (GRCm39) |
I45K |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,401 (GRCm39) |
|
probably benign |
Het |
| Pgm3 |
A |
T |
9: 86,443,938 (GRCm39) |
L322H |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,730 (GRCm39) |
F221L |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,982 (GRCm39) |
K79M |
probably damaging |
Het |
| Prkaa2 |
A |
G |
4: 104,909,195 (GRCm39) |
I83T |
probably benign |
Het |
| R3hdml |
A |
G |
2: 163,334,526 (GRCm39) |
T39A |
probably benign |
Het |
| Ralgds |
A |
G |
2: 28,435,184 (GRCm39) |
M447V |
probably benign |
Het |
| Rgs2 |
T |
C |
1: 143,878,783 (GRCm39) |
D40G |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,329,789 (GRCm39) |
M1176V |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,613,519 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
A |
T |
13: 76,278,447 (GRCm39) |
|
probably benign |
Het |
| Slc26a8 |
T |
C |
17: 28,857,560 (GRCm39) |
D861G |
possibly damaging |
Het |
| Slc4a8 |
A |
T |
15: 100,698,469 (GRCm39) |
I705F |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,946,996 (GRCm39) |
V576I |
probably damaging |
Het |
| Socs7 |
A |
G |
11: 97,253,973 (GRCm39) |
D169G |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,637,933 (GRCm39) |
V878A |
probably benign |
Het |
| Thop1 |
C |
T |
10: 80,916,001 (GRCm39) |
R395W |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,897 (GRCm39) |
H765Q |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,069 (GRCm39) |
M294L |
possibly damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,867 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,483,747 (GRCm39) |
S818P |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,430,850 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,321 (GRCm39) |
M330V |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,071 (GRCm39) |
Y725C |
probably damaging |
Het |
| Zhx3 |
C |
T |
2: 160,624,020 (GRCm39) |
S49N |
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 |
|
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 |
|
|
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 |
|
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'- AGAGATAGCAGCGTTTCTGGG -3'
(R):5'- CTCTAGAGCCCAAAAGCATCTTG -3'
Sequencing Primer
(F):5'- TGCCAGAAAATGAAAGCTATTGAC -3'
(R):5'- AGCCAAGGGTTTCTCTCAAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation