Incidental Mutation 'R9297:Nid1'
| ID |
704687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R9297 (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 13650897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 478
(V478A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000005532
AA Change: V478A
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: V478A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| 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 |
|---|
| Adamts1 |
T |
C |
16: 85,599,534 (GRCm39) |
Q22R |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,301,321 (GRCm39) |
S68P |
possibly damaging |
Het |
| Adcy6 |
A |
T |
15: 98,491,466 (GRCm39) |
N1044K |
possibly damaging |
Het |
| Ak9 |
T |
G |
10: 41,299,081 (GRCm39) |
M1594R |
unknown |
Het |
| Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
| Angpt1 |
A |
G |
15: 42,301,751 (GRCm39) |
I419T |
probably benign |
Het |
| Ankrd31 |
A |
T |
13: 97,015,085 (GRCm39) |
L1451F |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,990,157 (GRCm39) |
I860T |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
T |
C |
4: 65,460,960 (GRCm39) |
D1058G |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,987,371 (GRCm39) |
H48R |
possibly damaging |
Het |
| Bnc2 |
A |
C |
4: 84,474,136 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,496,887 (GRCm39) |
Y453H |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,891,085 (GRCm39) |
T653A |
probably benign |
Het |
| Ccdc102a |
A |
G |
8: 95,638,120 (GRCm39) |
S249P |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,832,920 (GRCm39) |
Y499C |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,028 (GRCm39) |
F1468L |
probably benign |
Het |
| Ccdc162 |
C |
A |
10: 41,506,110 (GRCm39) |
M893I |
probably benign |
Het |
| Ccdc33 |
C |
A |
9: 57,993,876 (GRCm39) |
W335L |
possibly damaging |
Het |
| Chn2 |
T |
A |
6: 54,272,840 (GRCm39) |
Y355N |
probably damaging |
Het |
| Clec4g |
A |
G |
8: 3,766,500 (GRCm39) |
M267T |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,554,273 (GRCm39) |
D111E |
possibly damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,031 (GRCm39) |
C200R |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,378,375 (GRCm39) |
S164P |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,436,714 (GRCm39) |
N126S |
probably damaging |
Het |
| Diaph1 |
G |
A |
18: 38,022,828 (GRCm39) |
T782I |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,204,054 (GRCm39) |
|
probably benign |
Het |
| Eme1 |
A |
T |
11: 94,541,614 (GRCm39) |
S69R |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,996 (GRCm39) |
D2335E |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,024,973 (GRCm39) |
K282E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,995,555 (GRCm39) |
E380G |
probably damaging |
Het |
| Gm973 |
A |
T |
1: 59,583,829 (GRCm39) |
Y204F |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,528,769 (GRCm39) |
S337T |
probably benign |
Het |
| Ipo8 |
C |
A |
6: 148,703,076 (GRCm39) |
C416F |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,352,933 (GRCm39) |
I214T |
probably damaging |
Het |
| Kdelr3 |
C |
A |
15: 79,411,275 (GRCm39) |
L203I |
probably benign |
Het |
| Kif26b |
C |
T |
1: 178,543,374 (GRCm39) |
Q336* |
probably null |
Het |
| Krt36 |
A |
G |
11: 99,994,271 (GRCm39) |
Y269H |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,127,746 (GRCm39) |
R386S |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,727,736 (GRCm39) |
D122V |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,280,873 (GRCm39) |
T1841A |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,993 (GRCm39) |
D440E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,480 (GRCm39) |
I448T |
probably benign |
Het |
| Megf8 |
G |
T |
7: 25,030,511 (GRCm39) |
C488F |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,563,314 (GRCm39) |
E299G |
probably damaging |
Het |
| Mpst |
G |
T |
15: 78,294,642 (GRCm39) |
V125L |
probably damaging |
Het |
| Msx1 |
G |
A |
5: 37,981,756 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,302,759 (GRCm39) |
E473G |
|
Het |
| Myo15a |
A |
G |
11: 60,385,899 (GRCm39) |
R602G |
probably null |
Het |
| Myod1 |
A |
T |
7: 46,026,356 (GRCm39) |
H87L |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,898,359 (GRCm39) |
I6634N |
unknown |
Het |
| Or52ab7 |
T |
A |
7: 102,978,583 (GRCm39) |
Y297N |
probably damaging |
Het |
| Or52e7 |
T |
C |
7: 104,684,830 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or8k22 |
A |
G |
2: 86,163,188 (GRCm39) |
Y171H |
probably benign |
Het |
| Pdgfrl |
C |
T |
8: 41,391,268 (GRCm39) |
S66F |
probably damaging |
Het |
| Phf20 |
G |
A |
2: 156,115,690 (GRCm39) |
R337H |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,293,118 (GRCm39) |
Y2834F |
probably benign |
Het |
| Plekhg4 |
A |
C |
8: 106,105,907 (GRCm39) |
E768A |
probably damaging |
Het |
| Prss37 |
A |
T |
6: 40,491,909 (GRCm39) |
Y224N |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,765,257 (GRCm39) |
V9E |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,417,698 (GRCm39) |
L926S |
probably benign |
Het |
| Rgl1 |
G |
A |
1: 152,400,454 (GRCm39) |
T649I |
possibly damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,307,251 (GRCm39) |
S29P |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,668,717 (GRCm39) |
D1119E |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,505,674 (GRCm39) |
K255E |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Stimate |
T |
A |
14: 30,588,639 (GRCm39) |
V122E |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,287 (GRCm39) |
I247T |
probably damaging |
Het |
| Tmem145 |
C |
T |
7: 25,008,257 (GRCm39) |
T280M |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp219 |
T |
C |
14: 52,246,494 (GRCm39) |
H211R |
probably damaging |
Het |
| Zfp42 |
T |
C |
8: 43,748,772 (GRCm39) |
N243S |
possibly damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,668,201 (GRCm39) |
S246R |
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 |
|
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 |
|
|
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'- AGGTAGGGGAAAGCTATCTTCAC -3'
(R):5'- AATGCTTCCAGGTGTCTGCAG -3'
Sequencing Primer
(F):5'- AGGGGAAAGCTATCTTCACCTTGTTC -3'
(R):5'- GACAGAGCTCCAAACCCATTCATTC -3'
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| Posted On |
2022-03-25 |
Incidental Mutation