Incidental Mutation 'R7434:Nid1'
| ID |
576641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
045511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13643049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 329
(I329T)
|
| 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: I329T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: I329T
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,344,115 (GRCm39) |
V1731A |
probably damaging |
Het |
| Bcat2 |
A |
G |
7: 45,225,429 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
T |
G |
16: 23,788,798 (GRCm39) |
E523D |
possibly damaging |
Het |
| Cdcp3 |
C |
T |
7: 130,881,212 (GRCm39) |
S1828F |
unknown |
Het |
| Col4a2 |
T |
A |
8: 11,471,250 (GRCm39) |
N503K |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,576 (GRCm39) |
C166Y |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,775 (GRCm39) |
V490A |
possibly damaging |
Het |
| Erich6b |
A |
G |
14: 75,901,024 (GRCm39) |
I113V |
probably benign |
Het |
| Fabp12 |
C |
T |
3: 10,312,738 (GRCm39) |
V95I |
probably benign |
Het |
| Gask1b |
T |
A |
3: 79,848,669 (GRCm39) |
F472I |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,938,448 (GRCm39) |
M75V |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,682 (GRCm39) |
S1073A |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,892,414 (GRCm39) |
K209R |
probably damaging |
Het |
| Irgm2 |
T |
G |
11: 58,110,291 (GRCm39) |
V6G |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,690,444 (GRCm39) |
V627A |
possibly damaging |
Het |
| Kansl1l |
C |
G |
1: 66,801,262 (GRCm39) |
S568T |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,230,301 (GRCm39) |
T21A |
probably benign |
Het |
| Lpar2 |
G |
T |
8: 70,279,165 (GRCm39) |
A320S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,073,400 (GRCm39) |
N235S |
probably damaging |
Het |
| Ly6g2 |
T |
C |
15: 75,088,567 (GRCm39) |
F12L |
probably benign |
Het |
| Meis1 |
A |
T |
11: 18,835,542 (GRCm39) |
S359T |
unknown |
Het |
| Mtor |
C |
T |
4: 148,549,416 (GRCm39) |
T600I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,149,910 (GRCm39) |
S144P |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,274,025 (GRCm39) |
E205G |
probably damaging |
Het |
| Nos3 |
T |
C |
5: 24,587,633 (GRCm39) |
I1031T |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,530 (GRCm39) |
S168P |
probably damaging |
Het |
| Or56a4 |
A |
G |
7: 104,806,106 (GRCm39) |
V261A |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,903,515 (GRCm39) |
K73* |
probably null |
Het |
| Pcdhga11 |
T |
C |
18: 37,891,005 (GRCm39) |
V671A |
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,552,180 (GRCm39) |
D317G |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,389 (GRCm39) |
E1957G |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,159,414 (GRCm39) |
S3097P |
unknown |
Het |
| Tas2r113 |
C |
T |
6: 132,870,272 (GRCm39) |
T100I |
probably benign |
Het |
| Tnni1 |
A |
G |
1: 135,735,260 (GRCm39) |
D57G |
|
Het |
| Trim29 |
G |
A |
9: 43,246,428 (GRCm39) |
V575I |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,087 (GRCm39) |
V499M |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,693,161 (GRCm39) |
M1748I |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,617 (GRCm39) |
M99K |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,276,207 (GRCm39) |
L515* |
probably null |
Het |
| Vmn1r103 |
T |
C |
7: 20,244,435 (GRCm39) |
K9E |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,187,639 (GRCm39) |
V616A |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,600,564 (GRCm39) |
S397R |
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 |
|
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'- TGAGATTGGAAGTCCTGCTACC -3'
(R):5'- TCCTGTCTAGAAACCAAGCAGG -3'
Sequencing Primer
(F):5'- GAAGTCCTGCTACCGCCAAG -3'
(R):5'- GGCAAATACATGTTCCAACTCG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation