Incidental Mutation 'R7449:Nid1'
ID |
577587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nid1
|
Ensembl Gene |
ENSMUSG00000005397 |
Gene Name |
nidogen 1 |
Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
MMRRC Submission |
045524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R7449 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 13656636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 589
(V589G)
|
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 damaging
Transcript: ENSMUST00000005532
AA Change: V589G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005532 Gene: ENSMUSG00000005397 AA Change: V589G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,035,131 (GRCm39) |
Y306N |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,647,192 (GRCm39) |
V3116D |
probably damaging |
Het |
Adss1 |
A |
T |
12: 112,600,585 (GRCm39) |
T185S |
probably damaging |
Het |
Ago2 |
G |
A |
15: 73,018,348 (GRCm39) |
P30L |
probably damaging |
Het |
Arb2a |
A |
G |
13: 77,907,561 (GRCm39) |
I41V |
probably damaging |
Het |
Atp5pf |
C |
T |
16: 84,628,251 (GRCm39) |
V44M |
probably benign |
Het |
Atp7b |
T |
A |
8: 22,501,865 (GRCm39) |
I833F |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,009,336 (GRCm39) |
N4869K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,579,310 (GRCm39) |
D1796N |
|
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,762,647 (GRCm39) |
I289T |
probably benign |
Het |
Crybg1 |
C |
A |
10: 43,880,515 (GRCm39) |
E224D |
probably benign |
Het |
Dysf |
T |
C |
6: 84,114,362 (GRCm39) |
L1217P |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,647,469 (GRCm39) |
N339K |
probably damaging |
Het |
Eva1c |
T |
C |
16: 90,673,081 (GRCm39) |
|
probably null |
Het |
Fam184a |
T |
C |
10: 53,574,730 (GRCm39) |
E293G |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,380,956 (GRCm39) |
P506S |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,415,997 (GRCm39) |
K210N |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,844,494 (GRCm39) |
V6D |
possibly damaging |
Het |
Ghitm |
C |
A |
14: 36,853,538 (GRCm39) |
G101C |
probably damaging |
Het |
Gimap5 |
T |
A |
6: 48,729,838 (GRCm39) |
V136D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,654,345 (GRCm39) |
G535D |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,956,450 (GRCm39) |
S314P |
unknown |
Het |
Hnrnpdl |
A |
G |
5: 100,185,014 (GRCm39) |
I279T |
probably damaging |
Het |
Idi2l |
T |
A |
13: 8,993,340 (GRCm39) |
H51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,366,345 (GRCm39) |
S923P |
probably damaging |
Het |
Krt39 |
C |
A |
11: 99,408,887 (GRCm39) |
C303F |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,545,482 (GRCm39) |
S427P |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,503,487 (GRCm39) |
R277W |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,005,375 (GRCm39) |
L226P |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,557,285 (GRCm39) |
L125P |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,116,951 (GRCm39) |
F225C |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,376,940 (GRCm39) |
A322T |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,115,063 (GRCm39) |
H148R |
probably benign |
Het |
Or52a5b |
G |
T |
7: 103,417,026 (GRCm39) |
Q193K |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,478,162 (GRCm39) |
T173S |
probably benign |
Het |
Otogl |
A |
G |
10: 107,639,524 (GRCm39) |
C1363R |
probably damaging |
Het |
Ovol1 |
T |
A |
19: 5,603,625 (GRCm39) |
D92V |
probably benign |
Het |
Pigt |
T |
C |
2: 164,344,419 (GRCm39) |
L356P |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,612,996 (GRCm39) |
Q434R |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,126,326 (GRCm39) |
F1344L |
probably benign |
Het |
Polr1has |
A |
G |
17: 37,275,275 (GRCm39) |
D16G |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,922,452 (GRCm39) |
L405P |
probably damaging |
Het |
Qtrt2 |
T |
A |
16: 43,701,395 (GRCm39) |
H55L |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Raver2 |
T |
A |
4: 100,959,860 (GRCm39) |
H113Q |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,589,765 (GRCm39) |
D760G |
unknown |
Het |
Rhobtb3 |
C |
T |
13: 76,058,860 (GRCm39) |
V313M |
probably benign |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,376,578 (GRCm39) |
Q135R |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,561,235 (GRCm39) |
S584G |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,256,091 (GRCm39) |
T904S |
probably benign |
Het |
Slc4a10 |
T |
C |
2: 62,134,290 (GRCm39) |
V1002A |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,554,992 (GRCm39) |
I55T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,523,420 (GRCm39) |
D1654V |
possibly damaging |
Het |
Tgfb1 |
G |
A |
7: 25,404,263 (GRCm39) |
V357M |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,335 (GRCm39) |
P2383S |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,858,723 (GRCm39) |
M382L |
probably benign |
Het |
Trrap |
A |
G |
5: 144,788,019 (GRCm39) |
Y3516C |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,721,067 (GRCm39) |
Y494* |
probably null |
Het |
Ubr2 |
C |
T |
17: 47,275,714 (GRCm39) |
E811K |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,172,280 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,869 (GRCm39) |
M785T |
probably damaging |
Het |
Vmn2r99 |
G |
A |
17: 19,599,407 (GRCm39) |
D364N |
probably benign |
Het |
Vps45 |
C |
A |
3: 95,954,448 (GRCm39) |
|
probably null |
Het |
Wdr25 |
A |
C |
12: 108,992,367 (GRCm39) |
H426P |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,310 (GRCm39) |
W136R |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,191,232 (GRCm39) |
I343L |
possibly damaging |
Het |
Zscan4b |
T |
C |
7: 10,637,985 (GRCm39) |
Q53R |
possibly damaging |
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 |
R2237:Nid1
|
UTSW |
13 |
13,675,070 (GRCm39) |
missense |
probably benign |
|
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 |
|
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'- ATCCCTGATGCTGCTACAGG -3'
(R):5'- ATAGCGCAAGATCCTCTCCTC -3'
Sequencing Primer
(F):5'- GGCACAAACAAATGGTCCTGTTTAAG -3'
(R):5'- AAGATCCTCTCCTCCTTGTTGTACAG -3'
|
Posted On |
2019-10-07 |