Incidental Mutation 'IGL02966:Nid1'
ID |
365584 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nid1
|
Ensembl Gene |
ENSMUSG00000005397 |
Gene Name |
nidogen 1 |
Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
IGL02966
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13656806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 646
(I646V)
|
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: I646V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000005532 Gene: ENSMUSG00000005397 AA Change: I646V
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: ENSMUST00000220813
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222142
|
Coding Region Coverage |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
A |
T |
X: 80,463,317 (GRCm39) |
Y797N |
possibly damaging |
Het |
Actbl2 |
G |
A |
13: 111,392,106 (GRCm39) |
G147E |
probably damaging |
Het |
Adam18 |
A |
T |
8: 25,101,165 (GRCm39) |
|
probably benign |
Het |
Ahcyl2 |
G |
A |
6: 29,880,556 (GRCm39) |
V175I |
probably benign |
Het |
Alox12 |
T |
A |
11: 70,140,911 (GRCm39) |
T375S |
probably damaging |
Het |
Batf2 |
C |
A |
19: 6,221,819 (GRCm39) |
Q210K |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,494 (GRCm39) |
S76P |
probably damaging |
Het |
Bphl |
A |
T |
13: 34,247,980 (GRCm39) |
H251L |
probably damaging |
Het |
C130074G19Rik |
C |
A |
1: 184,614,943 (GRCm39) |
E82D |
probably damaging |
Het |
Calu |
A |
T |
6: 29,356,584 (GRCm39) |
K39* |
probably null |
Het |
Capns1 |
T |
C |
7: 29,891,618 (GRCm39) |
D142G |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,206 (GRCm39) |
V107A |
probably damaging |
Het |
Cep170b |
G |
A |
12: 112,702,878 (GRCm39) |
G447D |
possibly damaging |
Het |
Chat |
C |
T |
14: 32,170,903 (GRCm39) |
V199M |
probably damaging |
Het |
Cntnap1 |
G |
T |
11: 101,075,575 (GRCm39) |
V918L |
probably damaging |
Het |
Cyp27a1 |
A |
G |
1: 74,771,249 (GRCm39) |
T145A |
probably benign |
Het |
Dgkq |
T |
A |
5: 108,804,287 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,369,948 (GRCm39) |
I4458V |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,536,172 (GRCm39) |
E409D |
probably damaging |
Het |
Fam78b |
G |
T |
1: 166,906,457 (GRCm39) |
L205F |
probably damaging |
Het |
Foxr2 |
C |
A |
X: 151,913,677 (GRCm39) |
R183S |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,264,129 (GRCm39) |
S361P |
probably damaging |
Het |
Gfra4 |
C |
A |
2: 130,884,560 (GRCm39) |
A15S |
possibly damaging |
Het |
Gm8011 |
A |
T |
14: 42,287,957 (GRCm39) |
D145V |
unknown |
Het |
Gnb4 |
A |
G |
3: 32,639,372 (GRCm39) |
V307A |
probably benign |
Het |
Hdac4 |
A |
T |
1: 91,982,667 (GRCm39) |
V17E |
possibly damaging |
Het |
Herc6 |
G |
A |
6: 57,560,318 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,383 (GRCm39) |
T1945A |
probably benign |
Het |
Ica1l |
A |
T |
1: 60,049,298 (GRCm39) |
N218K |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,274,887 (GRCm39) |
L1939Q |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Marchf8 |
C |
T |
6: 116,380,499 (GRCm39) |
R117C |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,338,234 (GRCm39) |
S327P |
probably damaging |
Het |
Mocos |
T |
G |
18: 24,809,668 (GRCm39) |
C424G |
probably damaging |
Het |
Mrpl50 |
A |
G |
4: 49,521,014 (GRCm39) |
W14R |
probably benign |
Het |
Mysm1 |
A |
T |
4: 94,863,523 (GRCm39) |
D23E |
probably benign |
Het |
Naa35 |
T |
A |
13: 59,734,085 (GRCm39) |
D34E |
probably benign |
Het |
Nupr1 |
T |
C |
7: 126,224,073 (GRCm39) |
|
probably benign |
Het |
Or2aj6 |
G |
T |
16: 19,443,051 (GRCm39) |
H266Q |
probably damaging |
Het |
Or5b24 |
A |
T |
19: 12,912,164 (GRCm39) |
I21F |
probably benign |
Het |
Or8b12b |
T |
G |
9: 37,684,882 (GRCm39) |
L309R |
probably benign |
Het |
Pcbp2 |
A |
C |
15: 102,392,684 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
C |
13: 95,232,156 (GRCm39) |
Q158R |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,289,291 (GRCm39) |
Y703C |
probably damaging |
Het |
Plxnb3 |
T |
C |
X: 72,808,889 (GRCm39) |
S885P |
probably benign |
Het |
Poc1b |
T |
A |
10: 98,980,176 (GRCm39) |
C136S |
probably damaging |
Het |
Pole2 |
T |
C |
12: 69,256,649 (GRCm39) |
D292G |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,089,553 (GRCm39) |
V97A |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,838,869 (GRCm39) |
H183Q |
possibly damaging |
Het |
Scn2a |
C |
T |
2: 65,532,188 (GRCm39) |
T600M |
possibly damaging |
Het |
Spata32 |
T |
C |
11: 103,099,629 (GRCm39) |
Q292R |
possibly damaging |
Het |
Sugp1 |
T |
C |
8: 70,523,758 (GRCm39) |
|
probably benign |
Het |
Sult3a1 |
A |
C |
10: 33,753,269 (GRCm39) |
|
probably benign |
Het |
Tpm3-rs7 |
C |
T |
14: 113,552,810 (GRCm39) |
Q235* |
probably null |
Het |
Trbv2 |
A |
T |
6: 41,024,685 (GRCm39) |
T34S |
possibly damaging |
Het |
Tssk6 |
A |
G |
8: 70,355,535 (GRCm39) |
Y193C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,538,802 (GRCm39) |
K34676R |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,479,101 (GRCm39) |
K1072E |
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 |
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 |
|
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 |
|
Posted On |
2015-12-18 |