Incidental Mutation 'R2237:Nid1'
| ID |
240490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
040237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R2237 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13675070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 930
(V930A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005532]
|
| AlphaFold |
P10493 |
| PDB Structure |
NIDOGEN-1 G2/PERLECAN IG3 COMPLEX [X-RAY DIFFRACTION]
DOMAIN G2 OF MOUSE NIDOGEN-1 [X-RAY DIFFRACTION]
Crystal structure of Nidogen/Laminin Complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005532
AA Change: V930A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: V930A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
NIDO
|
106 |
270 |
3.8e-70 |
SMART |
|
low complexity region
|
277 |
296 |
N/A |
INTRINSIC |
|
EGF
|
387 |
424 |
3.46e0 |
SMART |
|
G2F
|
425 |
664 |
7.69e-153 |
SMART |
|
EGF
|
669 |
707 |
8.65e-1 |
SMART |
|
EGF_CA
|
708 |
749 |
4.38e-11 |
SMART |
|
EGF
|
759 |
799 |
8.19e-2 |
SMART |
|
EGF_CA
|
800 |
838 |
1.42e-10 |
SMART |
|
TY
|
873 |
921 |
1.17e-19 |
SMART |
|
LY
|
968 |
1010 |
1.35e-2 |
SMART |
|
LY
|
1011 |
1053 |
4.34e-15 |
SMART |
|
LY
|
1054 |
1098 |
3.34e-16 |
SMART |
|
LY
|
1099 |
1141 |
3.25e-5 |
SMART |
|
LY
|
1142 |
1181 |
1.08e1 |
SMART |
|
EGF
|
1209 |
1242 |
2.45e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222142
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,136,303 (GRCm39) |
E406G |
probably benign |
Het |
| Alox8 |
A |
C |
11: 69,076,597 (GRCm39) |
S572A |
probably benign |
Het |
| Aoah |
G |
A |
13: 20,978,481 (GRCm39) |
|
probably benign |
Het |
| Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,637,477 (GRCm39) |
Y395F |
probably damaging |
Het |
| Bard1 |
G |
A |
1: 71,114,135 (GRCm39) |
P282L |
probably damaging |
Het |
| Brd7 |
T |
A |
8: 89,073,541 (GRCm39) |
E283V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,302 (GRCm39) |
I387V |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,360,394 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,629,704 (GRCm39) |
Q1205R |
possibly damaging |
Het |
| Camsap2 |
A |
T |
1: 136,273,069 (GRCm39) |
L36Q |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,219 (GRCm39) |
F261L |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,641,260 (GRCm39) |
M1K |
probably null |
Het |
| Cdca7l |
A |
G |
12: 117,837,761 (GRCm39) |
E237G |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,314,341 (GRCm39) |
T146A |
probably benign |
Het |
| Clhc1 |
T |
G |
11: 29,519,329 (GRCm39) |
S379A |
probably benign |
Het |
| Dbf4 |
T |
A |
5: 8,458,542 (GRCm39) |
I158L |
possibly damaging |
Het |
| Deup1 |
A |
C |
9: 15,486,597 (GRCm39) |
I455S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,967,259 (GRCm39) |
|
probably null |
Het |
| Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,224,004 (GRCm39) |
R1185H |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,535,527 (GRCm39) |
S401P |
probably benign |
Het |
| Fbxw15 |
A |
G |
9: 109,384,303 (GRCm39) |
S403P |
probably damaging |
Het |
| Hsd17b1 |
G |
A |
11: 100,970,652 (GRCm39) |
V236M |
probably damaging |
Het |
| Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
| Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
| Itpripl2 |
T |
C |
7: 118,089,294 (GRCm39) |
T422A |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,664 (GRCm39) |
S39P |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,054,493 (GRCm39) |
M484L |
probably benign |
Het |
| Kctd8 |
T |
A |
5: 69,267,752 (GRCm39) |
I453F |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,584,020 (GRCm39) |
T152A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,941,733 (GRCm39) |
V1809A |
possibly damaging |
Het |
| L3mbtl2 |
A |
T |
15: 81,568,531 (GRCm39) |
T512S |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,617,158 (GRCm39) |
D1032E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,278,055 (GRCm39) |
F633S |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,415,826 (GRCm39) |
I2924S |
probably benign |
Het |
| Nfe2l2 |
G |
A |
2: 75,506,898 (GRCm39) |
P401S |
probably benign |
Het |
| Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
| Nt5m |
A |
G |
11: 59,743,696 (GRCm39) |
K108R |
probably benign |
Het |
| Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,192 (GRCm39) |
D196G |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 109,013,854 (GRCm39) |
Q80L |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,188,505 (GRCm39) |
N44S |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,763,952 (GRCm39) |
P4142S |
unknown |
Het |
| Pdlim2 |
T |
G |
14: 70,408,698 (GRCm39) |
T173P |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,668,915 (GRCm39) |
|
probably null |
Het |
| Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,923,081 (GRCm39) |
Y984H |
probably damaging |
Het |
| Plscr2 |
T |
C |
9: 92,172,877 (GRCm39) |
C179R |
probably damaging |
Het |
| Rbpms2 |
C |
A |
9: 65,558,893 (GRCm39) |
Y183* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,677,146 (GRCm39) |
E3235V |
probably benign |
Het |
| Sesn3 |
T |
C |
9: 14,219,761 (GRCm39) |
V50A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,004,409 (GRCm39) |
V246A |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,241 (GRCm39) |
M313K |
possibly damaging |
Het |
| Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
| Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
| Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,946,675 (GRCm39) |
M310K |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,795,372 (GRCm39) |
P585L |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
| Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
| Ttll2 |
G |
A |
17: 7,619,522 (GRCm39) |
T135I |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,170,101 (GRCm39) |
S1584G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r80 |
G |
A |
10: 79,004,104 (GRCm39) |
E106K |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,475,090 (GRCm39) |
H643R |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,456,099 (GRCm39) |
Q1354* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,929,516 (GRCm39) |
M263R |
unknown |
Het |
|
| Other mutations in Nid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Nid1
|
APN |
13 |
13,650,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Nid1
|
APN |
13 |
13,663,743 (GRCm39) |
splice site |
probably null |
|
|
IGL02452:Nid1
|
APN |
13 |
13,683,305 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02806:Nid1
|
APN |
13 |
13,642,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02966:Nid1
|
APN |
13 |
13,656,806 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03136:Nid1
|
APN |
13 |
13,675,084 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03411:Nid1
|
APN |
13 |
13,612,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0384:Nid1
|
UTSW |
13 |
13,638,421 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0413:Nid1
|
UTSW |
13 |
13,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1257:Nid1
|
UTSW |
13 |
13,658,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1390:Nid1
|
UTSW |
13 |
13,650,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Nid1
|
UTSW |
13 |
13,683,380 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2057:Nid1
|
UTSW |
13 |
13,675,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2058:Nid1
|
UTSW |
13 |
13,675,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2059:Nid1
|
UTSW |
13 |
13,675,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2132:Nid1
|
UTSW |
13 |
13,684,071 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2140:Nid1
|
UTSW |
13 |
13,674,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2195:Nid1
|
UTSW |
13 |
13,650,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Nid1
|
UTSW |
13 |
13,675,078 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2987:Nid1
|
UTSW |
13 |
13,674,258 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3696:Nid1
|
UTSW |
13 |
13,661,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3697:Nid1
|
UTSW |
13 |
13,661,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3698:Nid1
|
UTSW |
13 |
13,661,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3772:Nid1
|
UTSW |
13 |
13,651,003 (GRCm39) |
splice site |
probably benign |
|
|
R4092:Nid1
|
UTSW |
13 |
13,661,224 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4126:Nid1
|
UTSW |
13 |
13,650,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4128:Nid1
|
UTSW |
13 |
13,650,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4680:Nid1
|
UTSW |
13 |
13,647,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Nid1
|
UTSW |
13 |
13,681,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4783:Nid1
|
UTSW |
13 |
13,674,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4812:Nid1
|
UTSW |
13 |
13,681,053 (GRCm39) |
nonsense |
probably null |
|
|
R4834:Nid1
|
UTSW |
13 |
13,683,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Nid1
|
UTSW |
13 |
13,674,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4930:Nid1
|
UTSW |
13 |
13,684,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Nid1
|
UTSW |
13 |
13,658,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Nid1
|
UTSW |
13 |
13,643,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5427:Nid1
|
UTSW |
13 |
13,658,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Nid1
|
UTSW |
13 |
13,612,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5507:Nid1
|
UTSW |
13 |
13,663,622 (GRCm39) |
nonsense |
probably null |
|
|
R5663:Nid1
|
UTSW |
13 |
13,647,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Nid1
|
UTSW |
13 |
13,663,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6313:Nid1
|
UTSW |
13 |
13,638,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6761:Nid1
|
UTSW |
13 |
13,656,620 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7069:Nid1
|
UTSW |
13 |
13,683,353 (GRCm39) |
missense |
probably benign |
|
|
R7208:Nid1
|
UTSW |
13 |
13,642,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7284:Nid1
|
UTSW |
13 |
13,663,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7434:Nid1
|
UTSW |
13 |
13,643,049 (GRCm39) |
missense |
probably benign |
|
|
R7449:Nid1
|
UTSW |
13 |
13,656,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Nid1
|
UTSW |
13 |
13,643,028 (GRCm39) |
missense |
probably benign |
|
|
R7762:Nid1
|
UTSW |
13 |
13,663,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Nid1
|
UTSW |
13 |
13,674,318 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8420:Nid1
|
UTSW |
13 |
13,612,416 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8506:Nid1
|
UTSW |
13 |
13,650,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8756:Nid1
|
UTSW |
13 |
13,683,386 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8903:Nid1
|
UTSW |
13 |
13,638,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9084:Nid1
|
UTSW |
13 |
13,652,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9297:Nid1
|
UTSW |
13 |
13,650,897 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9344:Nid1
|
UTSW |
13 |
13,652,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Nid1
|
UTSW |
13 |
13,677,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Nid1
|
UTSW |
13 |
13,684,119 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTAGATGGGTGCATGAGC -3'
(R):5'- TTAACTATCTTGGTAGCCAGGC -3'
Sequencing Primer
(F):5'- GCATGAGCACATATACACATATCTTC -3'
(R):5'- GTAGCCAGGCCCCTATTACTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation