Incidental Mutation 'R3772:Nid1'
ID |
273378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nid1
|
Ensembl Gene |
ENSMUSG00000005397 |
Gene Name |
nidogen 1 |
Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
MMRRC Submission |
040748-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R3772 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 13651003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000005532 Gene: ENSMUSG00000005397
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (77/77) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,159,720 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,649,633 (GRCm39) |
N97S |
possibly damaging |
Het |
Aldh1a2 |
A |
G |
9: 71,160,202 (GRCm39) |
D76G |
probably damaging |
Het |
Aldh3a1 |
A |
G |
11: 61,105,431 (GRCm39) |
E179G |
possibly damaging |
Het |
Ap1g1 |
A |
G |
8: 110,564,418 (GRCm39) |
D324G |
probably damaging |
Het |
Arfgap2 |
A |
G |
2: 91,095,711 (GRCm39) |
T12A |
probably benign |
Het |
Aurka |
A |
G |
2: 172,208,880 (GRCm39) |
L85P |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,925,424 (GRCm39) |
|
probably benign |
Het |
Bmp7 |
A |
T |
2: 172,712,015 (GRCm39) |
I403N |
probably damaging |
Het |
Carns1 |
A |
G |
19: 4,220,915 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,932,359 (GRCm39) |
|
probably benign |
Het |
Ccl2 |
C |
T |
11: 81,927,784 (GRCm39) |
A76V |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,464,615 (GRCm39) |
I180T |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,251,041 (GRCm39) |
L1680P |
probably damaging |
Het |
Col4a6 |
C |
A |
X: 139,955,196 (GRCm39) |
G1416C |
probably damaging |
Het |
Ctnna2 |
T |
G |
6: 76,950,752 (GRCm39) |
N573T |
probably damaging |
Het |
Cts8 |
G |
A |
13: 61,398,715 (GRCm39) |
|
probably benign |
Het |
Cxcl17 |
A |
G |
7: 25,099,754 (GRCm39) |
|
probably benign |
Het |
Defb18 |
T |
C |
1: 18,306,845 (GRCm39) |
H37R |
possibly damaging |
Het |
Dis3l2 |
T |
C |
1: 86,782,130 (GRCm39) |
I229T |
probably benign |
Het |
Dysf |
G |
A |
6: 84,129,333 (GRCm39) |
S1474N |
possibly damaging |
Het |
Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
F13a1 |
T |
C |
13: 37,082,108 (GRCm39) |
K532R |
probably benign |
Het |
Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
Focad |
A |
C |
4: 88,254,398 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
Frrs1 |
T |
G |
3: 116,672,036 (GRCm39) |
S45A |
possibly damaging |
Het |
Gm5422 |
T |
A |
10: 31,124,510 (GRCm39) |
|
noncoding transcript |
Het |
Gm5866 |
T |
C |
5: 52,740,088 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
Iglon5 |
A |
T |
7: 43,130,037 (GRCm39) |
Y42* |
probably null |
Het |
Khdrbs2 |
C |
T |
1: 32,283,157 (GRCm39) |
Q90* |
probably null |
Het |
Krt74 |
T |
C |
15: 101,670,630 (GRCm39) |
|
noncoding transcript |
Het |
Lamc2 |
T |
A |
1: 152,999,997 (GRCm39) |
M1121L |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,582,798 (GRCm39) |
L1073P |
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Man2c1 |
C |
A |
9: 57,047,661 (GRCm39) |
|
probably benign |
Het |
Megf10 |
G |
A |
18: 57,416,934 (GRCm39) |
D768N |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,371,224 (GRCm39) |
N4108S |
possibly damaging |
Het |
Nnt |
A |
G |
13: 119,533,488 (GRCm39) |
V59A |
probably damaging |
Het |
Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
Or1o4 |
T |
C |
17: 37,590,745 (GRCm39) |
T189A |
probably benign |
Het |
Pag1 |
G |
A |
3: 9,764,688 (GRCm39) |
T155M |
probably benign |
Het |
Pgam5 |
T |
C |
5: 110,413,459 (GRCm39) |
H176R |
probably damaging |
Het |
Pid1 |
T |
C |
1: 84,015,918 (GRCm39) |
D149G |
probably damaging |
Het |
Pkp3 |
G |
A |
7: 140,662,259 (GRCm39) |
M1I |
probably null |
Het |
Pld2 |
C |
T |
11: 70,434,949 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
Rab9b |
T |
A |
X: 135,762,198 (GRCm39) |
E67D |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf214 |
T |
C |
9: 45,777,932 (GRCm39) |
M625V |
possibly damaging |
Het |
Rwdd2a |
A |
C |
9: 86,456,214 (GRCm39) |
N130T |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
Septin10 |
A |
T |
10: 59,012,709 (GRCm39) |
M303K |
probably damaging |
Het |
Sez6l2 |
A |
G |
7: 126,558,375 (GRCm39) |
E339G |
probably damaging |
Het |
Sf3b1 |
C |
A |
1: 55,039,150 (GRCm39) |
|
probably benign |
Het |
Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
St18 |
A |
T |
1: 6,914,553 (GRCm39) |
K799I |
probably damaging |
Het |
Strada |
C |
T |
11: 106,055,648 (GRCm39) |
R333Q |
probably damaging |
Het |
Stradb |
A |
T |
1: 59,024,544 (GRCm39) |
I64L |
probably benign |
Het |
Sun1 |
A |
G |
5: 139,224,575 (GRCm39) |
|
probably benign |
Het |
Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
Tnk2 |
A |
G |
16: 32,498,640 (GRCm39) |
D651G |
probably damaging |
Het |
Trim43c |
A |
T |
9: 88,729,810 (GRCm39) |
D417V |
probably damaging |
Het |
Tsc22d4 |
T |
C |
5: 137,757,495 (GRCm39) |
L374P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,180,011 (GRCm39) |
V262A |
possibly damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,765,980 (GRCm39) |
N29I |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
Zbed4 |
C |
T |
15: 88,664,990 (GRCm39) |
P353S |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
Zwilch |
A |
T |
9: 64,063,316 (GRCm39) |
F286I |
probably benign |
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 |
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'- GCACTCCTATGTGGTGATGAAC -3'
(R):5'- GGGCTTCTAAATCCCCATCAAG -3'
Sequencing Primer
(F):5'- TGAACCACGGGCGCTCTTAC -3'
(R):5'- GGCTTCTAAATCCCCATCAAGAAACC -3'
|
Posted On |
2015-03-25 |