Incidental Mutation 'R7831:Nell1'
ID |
605623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nell1
|
Ensembl Gene |
ENSMUSG00000055409 |
Gene Name |
NEL-like 1 |
Synonyms |
l7R6, B230343H07Rik |
MMRRC Submission |
045885-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7831 (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 49632548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 60
(F60L)
|
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: F60L
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080550 Gene: ENSMUSG00000055409 AA Change: F60L
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: F60L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103229 Gene: ENSMUSG00000055409 AA Change: F60L
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 damaging
Transcript: ENSMUST00000151721
AA Change: F60L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114706 Gene: ENSMUSG00000055409 AA Change: F60L
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% (87/87) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,247,404 (GRCm39) |
V2384I |
possibly damaging |
Het |
Acsl1 |
A |
G |
8: 46,972,043 (GRCm39) |
D297G |
probably benign |
Het |
Ap2a1 |
C |
A |
7: 44,550,436 (GRCm39) |
R944L |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,756,933 (GRCm39) |
Y398C |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,011,202 (GRCm39) |
V968D |
probably damaging |
Het |
Becn1 |
T |
C |
11: 101,181,279 (GRCm39) |
T341A |
probably benign |
Het |
Card11 |
G |
T |
5: 140,859,167 (GRCm39) |
S1126R |
possibly damaging |
Het |
Ccdc51 |
T |
C |
9: 108,921,058 (GRCm39) |
L315S |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,140,653 (GRCm39) |
L1298P |
unknown |
Het |
Cep170b |
A |
T |
12: 112,711,234 (GRCm39) |
D1538V |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,826,782 (GRCm39) |
F348I |
possibly damaging |
Het |
Clip1 |
A |
T |
5: 123,751,342 (GRCm39) |
M813K |
|
Het |
Col19a1 |
G |
A |
1: 24,565,563 (GRCm39) |
T256I |
unknown |
Het |
Col6a3 |
A |
T |
1: 90,724,268 (GRCm39) |
C2027* |
probably null |
Het |
Crisp4 |
A |
T |
1: 18,199,013 (GRCm39) |
N140K |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,143,195 (GRCm39) |
A1266S |
probably benign |
Het |
Cyfip2 |
G |
A |
11: 46,087,273 (GRCm39) |
R1206C |
probably damaging |
Het |
Cyp24a1 |
T |
A |
2: 170,327,860 (GRCm39) |
M461L |
probably damaging |
Het |
Cyp2a5 |
C |
T |
7: 26,534,940 (GRCm39) |
T51I |
possibly damaging |
Het |
Cyp2b19 |
C |
T |
7: 26,466,565 (GRCm39) |
H398Y |
possibly damaging |
Het |
Cyp4a29 |
G |
A |
4: 115,107,367 (GRCm39) |
V234I |
probably benign |
Het |
Dicer1 |
T |
G |
12: 104,675,059 (GRCm39) |
K734N |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,614,695 (GRCm39) |
|
probably null |
Het |
Entpd3 |
G |
A |
9: 120,373,025 (GRCm39) |
G14D |
probably damaging |
Het |
Entrep3 |
G |
A |
3: 89,091,520 (GRCm39) |
|
probably null |
Het |
Ermp1 |
T |
C |
19: 29,595,367 (GRCm39) |
T634A |
probably benign |
Het |
Evc |
C |
T |
5: 37,476,427 (GRCm39) |
G374D |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,806,404 (GRCm39) |
T2124K |
probably damaging |
Het |
Fgf8 |
G |
A |
19: 45,730,876 (GRCm39) |
P50S |
probably benign |
Het |
Fmnl1 |
C |
T |
11: 103,088,999 (GRCm39) |
R1074W |
unknown |
Het |
Galnt18 |
C |
T |
7: 111,155,665 (GRCm39) |
V223M |
possibly damaging |
Het |
Galnt2 |
A |
G |
8: 125,058,817 (GRCm39) |
N295S |
probably benign |
Het |
Grip1 |
T |
G |
10: 119,854,011 (GRCm39) |
V600G |
probably damaging |
Het |
Insm2 |
T |
A |
12: 55,647,323 (GRCm39) |
C356S |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,193,082 (GRCm39) |
I1672F |
probably benign |
Het |
Kdm1b |
T |
G |
13: 47,204,098 (GRCm39) |
N76K |
probably benign |
Het |
Khnyn |
T |
A |
14: 56,125,303 (GRCm39) |
|
probably null |
Het |
Kidins220 |
C |
T |
12: 25,111,230 (GRCm39) |
A1167V |
possibly damaging |
Het |
Krt40 |
T |
C |
11: 99,432,087 (GRCm39) |
D208G |
probably benign |
Het |
Lars1 |
T |
A |
18: 42,350,627 (GRCm39) |
D894V |
probably benign |
Het |
Lmx1a |
A |
T |
1: 167,668,521 (GRCm39) |
N266I |
probably benign |
Het |
Mrgprb5 |
T |
A |
7: 47,817,997 (GRCm39) |
K246M |
probably benign |
Het |
Mrpl2 |
G |
A |
17: 46,959,598 (GRCm39) |
G176R |
possibly damaging |
Het |
Muc21 |
T |
A |
17: 35,929,651 (GRCm39) |
T1512S |
unknown |
Het |
Nnt |
G |
A |
13: 119,506,630 (GRCm39) |
A453V |
possibly damaging |
Het |
Opa1 |
A |
G |
16: 29,467,755 (GRCm39) |
K940R |
probably benign |
Het |
Opn5 |
A |
C |
17: 42,891,510 (GRCm39) |
I309S |
probably null |
Het |
Or1af1 |
C |
T |
2: 37,109,723 (GRCm39) |
T74I |
probably damaging |
Het |
Or1r1 |
A |
C |
11: 73,875,257 (GRCm39) |
M59R |
probably damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,620 (GRCm39) |
I174F |
probably damaging |
Het |
P3h3 |
T |
G |
6: 124,832,118 (GRCm39) |
E256A |
possibly damaging |
Het |
Pald1 |
G |
T |
10: 61,191,593 (GRCm39) |
T65K |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,735,989 (GRCm39) |
Y279C |
probably damaging |
Het |
Pik3c2b |
G |
A |
1: 132,998,980 (GRCm39) |
S367N |
possibly damaging |
Het |
Pik3cb |
T |
C |
9: 98,970,666 (GRCm39) |
T342A |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,357,990 (GRCm39) |
E837D |
possibly damaging |
Het |
Ppp2r2b |
T |
A |
18: 42,834,597 (GRCm39) |
Y191F |
probably benign |
Het |
Ppp4r4 |
G |
A |
12: 103,557,080 (GRCm39) |
E439K |
possibly damaging |
Het |
Ptprk |
A |
G |
10: 28,444,404 (GRCm39) |
I946V |
possibly damaging |
Het |
Ror1 |
A |
G |
4: 100,298,295 (GRCm39) |
N556S |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,757,183 (GRCm39) |
A391T |
possibly damaging |
Het |
Selp |
G |
A |
1: 163,972,584 (GRCm39) |
|
probably null |
Het |
Setx |
T |
C |
2: 29,047,120 (GRCm39) |
L1866S |
probably damaging |
Het |
Setx |
T |
A |
2: 29,069,866 (GRCm39) |
V2557E |
possibly damaging |
Het |
Slc66a3 |
T |
A |
12: 17,047,632 (GRCm39) |
|
probably null |
Het |
Slit2 |
A |
G |
5: 48,402,025 (GRCm39) |
T805A |
probably benign |
Het |
Sorbs3 |
T |
G |
14: 70,440,481 (GRCm39) |
N89T |
possibly damaging |
Het |
Sorl1 |
C |
A |
9: 42,001,257 (GRCm39) |
V248L |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,066,288 (GRCm39) |
V612E |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,113,200 (GRCm39) |
Y583F |
probably damaging |
Het |
Tada1 |
G |
T |
1: 166,217,442 (GRCm39) |
R193I |
probably damaging |
Het |
Tnrc6b |
C |
G |
15: 80,764,580 (GRCm39) |
A694G |
possibly damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,711,425 (GRCm39) |
G8372D |
unknown |
Het |
Ube2g2 |
A |
G |
10: 77,470,576 (GRCm39) |
T68A |
|
Het |
Ubl7 |
T |
G |
9: 57,821,918 (GRCm39) |
V89G |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,492,038 (GRCm39) |
I3109N |
probably damaging |
Het |
Utp20 |
T |
A |
10: 88,598,632 (GRCm39) |
K115* |
probably null |
Het |
Vmn2r26 |
T |
A |
6: 124,016,758 (GRCm39) |
Y407* |
probably null |
Het |
Yod1 |
G |
T |
1: 130,646,986 (GRCm39) |
V288F |
probably damaging |
Het |
Zbed5 |
A |
C |
5: 129,930,798 (GRCm39) |
N249T |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,995,244 (GRCm39) |
T47A |
probably damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,984 (GRCm39) |
T460A |
not run |
Het |
Zfp712 |
A |
C |
13: 67,200,483 (GRCm39) |
|
probably null |
Het |
Zfyve16 |
A |
T |
13: 92,658,836 (GRCm39) |
H358Q |
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 |
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'- AGCACTCCTAACTGCCTTGG -3'
(R):5'- AGAACTTTCCCTGTTTATCACACAC -3'
Sequencing Primer
(F):5'- AACTGCCTTGGCTGAATCCTG -3'
(R):5'- CTGTTTATCACACACTTCAGGATAAC -3'
|
Posted On |
2019-12-20 |