Incidental Mutation 'R7913:Nell1'
| ID |
610667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell1
|
| Ensembl Gene |
ENSMUSG00000055409 |
| Gene Name |
NEL-like 1 |
| Synonyms |
l7R6, B230343H07Rik |
| MMRRC Submission |
045961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7913 (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 A
at 49929270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 392
(H392Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
[ENSMUST00000151721]
|
| AlphaFold |
Q2VWQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081872
AA Change: H392Q
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: H392Q
| 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: H392Q
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: H392Q
| 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 benign
Transcript: ENSMUST00000151721
AA Change: I255K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: I255K
| 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: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
A |
G |
10: 90,896,133 (GRCm39) |
V324A |
probably damaging |
Het |
| Aqp8 |
T |
A |
7: 123,063,495 (GRCm39) |
I115N |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,812,131 (GRCm39) |
C692Y |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,665,303 (GRCm39) |
S717T |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,947,941 (GRCm39) |
S408G |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,137,621 (GRCm39) |
G895* |
probably null |
Het |
| Cs |
A |
T |
10: 128,186,310 (GRCm39) |
K34N |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,435 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,187,192 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,859 (GRCm39) |
Y696* |
probably null |
Het |
| Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
| Fgd2 |
G |
T |
17: 29,593,019 (GRCm39) |
R423L |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,621,741 (GRCm39) |
D490G |
possibly damaging |
Het |
| Gm5113 |
A |
T |
7: 29,877,648 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,291,654 (GRCm39) |
W854R |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,981,129 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,842 (GRCm39) |
M694K |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,645 (GRCm39) |
T79A |
possibly damaging |
Het |
| Hspa4 |
A |
C |
11: 53,153,134 (GRCm39) |
V761G |
probably benign |
Het |
| Ifi203 |
T |
C |
1: 173,754,523 (GRCm39) |
Y736C |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,675,524 (GRCm39) |
L308Q |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,220,785 (GRCm39) |
D230G |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,959,522 (GRCm39) |
C319* |
probably null |
Het |
| Ncs1 |
C |
A |
2: 31,177,296 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
C |
A |
11: 71,108,537 (GRCm39) |
E321D |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,779,725 (GRCm39) |
H796L |
probably benign |
Het |
| Nudt16l1 |
C |
A |
16: 4,757,245 (GRCm39) |
Q53K |
possibly damaging |
Het |
| Nyap1 |
A |
G |
5: 137,733,231 (GRCm39) |
S601P |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,859,244 (GRCm39) |
Q634* |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,982,999 (GRCm39) |
E28D |
probably benign |
Het |
| Or12e14 |
A |
G |
2: 87,677,037 (GRCm39) |
I141V |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,224 (GRCm39) |
V142A |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,571 (GRCm39) |
V288E |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,718,074 (GRCm39) |
L310H |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 133,017,799 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
T |
A |
4: 143,341,615 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Prl3c1 |
A |
G |
13: 27,383,393 (GRCm39) |
I40V |
probably benign |
Het |
| R3hdm4 |
C |
T |
10: 79,747,779 (GRCm39) |
A229T |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,995,013 (GRCm39) |
S851P |
possibly damaging |
Het |
| Ralgapb |
A |
T |
2: 158,307,859 (GRCm39) |
I1056F |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,356,899 (GRCm39) |
Y36H |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,073,924 (GRCm39) |
V451D |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,506 (GRCm39) |
K334R |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,788,315 (GRCm39) |
N184K |
possibly damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,109 (GRCm39) |
D105G |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,902 (GRCm39) |
C131S |
possibly damaging |
Het |
| Tead4 |
A |
G |
6: 128,220,331 (GRCm39) |
|
probably null |
Het |
| Tescl |
C |
A |
7: 24,033,076 (GRCm39) |
R83L |
probably damaging |
Het |
| Ufd1 |
G |
T |
16: 18,633,616 (GRCm39) |
V14F |
probably benign |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,477 (GRCm39) |
Y92N |
probably benign |
Het |
| Vmn2r52 |
C |
A |
7: 9,896,877 (GRCm39) |
V532L |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,801,036 (GRCm39) |
T300I |
possibly damaging |
Het |
| Wt1 |
T |
G |
2: 104,997,205 (GRCm39) |
S381A |
probably damaging |
Het |
| Zbtb44 |
C |
T |
9: 30,965,504 (GRCm39) |
Q305* |
probably null |
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 |
|
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'- ATGCTCTCATACACAGGACAGTC -3'
(R):5'- TGCCCTTGCATAGCCAAATC -3'
Sequencing Primer
(F):5'- AGGACAGTCCAGAGTTTCTCC -3'
(R):5'- GCCAAATCCATATCTGTAGTAACTGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation