Incidental Mutation 'R0029:Nell1'
ID |
44571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nell1
|
Ensembl Gene |
ENSMUSG00000055409 |
Gene Name |
NEL-like 1 |
Synonyms |
l7R6, B230343H07Rik |
MMRRC Submission |
038323-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0029 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
49625098-50513037 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 49770463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081872]
[ENSMUST00000107603]
[ENSMUST00000151721]
|
AlphaFold |
Q2VWQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081872
|
SMART Domains |
Protein: ENSMUSP00000080550 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 |
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
|
SMART Domains |
Protein: ENSMUSP00000103229 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 |
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
94% (48/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
Ccn4 |
C |
T |
15: 66,784,713 (GRCm39) |
R129C |
probably damaging |
Het |
Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,469,397 (GRCm39) |
D753V |
probably damaging |
Het |
Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
Slc26a2 |
G |
A |
18: 61,335,382 (GRCm39) |
P24S |
possibly damaging |
Het |
Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
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 |
|
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 |
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'- TTTTGAACTGGAGAGCAGTGGCCC -3'
(R):5'- AGCAGCAAAGCTTCTCAGACTCATC -3'
Sequencing Primer
(F):5'- CAAGAGAAGAGATACGCTATCATTAC -3'
(R):5'- ATGGAACTTCAGCCAGTGC -3'
|
Posted On |
2013-06-11 |