Incidental Mutation 'R8506:Nid1'
| ID |
655595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
067842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R8506 (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 C
at 13650759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 432
(V432A)
|
| 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: V432A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: V432A
| 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: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
T |
9: 101,820,171 (GRCm39) |
E197V |
possibly damaging |
Het |
| Alkbh8 |
C |
T |
9: 3,335,616 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,586,851 (GRCm39) |
A498T |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,165,155 (GRCm39) |
E427D |
possibly damaging |
Het |
| App |
A |
C |
16: 84,879,704 (GRCm39) |
V143G |
unknown |
Het |
| Bod1l |
C |
A |
5: 41,976,398 (GRCm39) |
E1639* |
probably null |
Het |
| C2cd2 |
T |
C |
16: 97,676,621 (GRCm39) |
D122G |
|
Het |
| Ccdc88b |
G |
T |
19: 6,824,690 (GRCm39) |
P1357T |
probably damaging |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,821 (GRCm39) |
T211A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,820 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,586,195 (GRCm39) |
A106S |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chpf2 |
T |
C |
5: 24,793,295 (GRCm39) |
L87P |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,481,944 (GRCm39) |
I60N |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,208,481 (GRCm39) |
I1845L |
probably benign |
Het |
| Disp3 |
C |
T |
4: 148,326,027 (GRCm39) |
V1244I |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,940,108 (GRCm39) |
S1685P |
probably benign |
Het |
| Etnppl |
G |
A |
3: 130,423,122 (GRCm39) |
V274I |
possibly damaging |
Het |
| Evc2 |
T |
C |
5: 37,540,486 (GRCm39) |
S561P |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,940,623 (GRCm39) |
E759G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,157 (GRCm39) |
F372S |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,173,806 (GRCm39) |
T868A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,380,863 (GRCm39) |
D3580G |
possibly damaging |
Het |
| Hmbs |
A |
G |
9: 44,252,921 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,947 (GRCm39) |
E161D |
probably damaging |
Het |
| Ighv8-4 |
A |
G |
12: 114,987,728 (GRCm39) |
V90A |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,319,914 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
A |
10: 112,291,537 (GRCm39) |
F242I |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,628 (GRCm39) |
I229T |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,379,360 (GRCm39) |
L1791F |
probably damaging |
Het |
| Med6 |
A |
T |
12: 81,641,734 (GRCm39) |
M1K |
probably null |
Het |
| Mei4 |
A |
G |
9: 81,861,291 (GRCm39) |
D294G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,562,582 (GRCm39) |
I585V |
probably benign |
Het |
| Nlrp4c |
G |
T |
7: 6,103,775 (GRCm39) |
G903V |
possibly damaging |
Het |
| Nrf1 |
G |
A |
6: 30,126,256 (GRCm39) |
A416T |
probably benign |
Het |
| Nsl1 |
G |
C |
1: 190,808,832 (GRCm39) |
C173S |
unknown |
Het |
| Obsl1 |
G |
A |
1: 75,482,300 (GRCm39) |
A190V |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,073,336 (GRCm39) |
V262I |
probably benign |
Het |
| Or51f1d |
T |
A |
7: 102,700,709 (GRCm39) |
M68K |
probably damaging |
Het |
| Or5b3 |
A |
G |
19: 13,388,604 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,181 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,922 (GRCm39) |
L131P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,745 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,901,643 (GRCm39) |
T621I |
probably benign |
Het |
| Pabpc4l |
G |
A |
3: 46,400,832 (GRCm39) |
R271* |
probably null |
Het |
| Paics |
A |
T |
5: 77,112,437 (GRCm39) |
D307V |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,737 (GRCm39) |
D522G |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,590,759 (GRCm39) |
C1020S |
unknown |
Het |
| Pfkfb4 |
T |
G |
9: 108,834,667 (GRCm39) |
D113E |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,830 (GRCm39) |
Y202C |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,090 (GRCm39) |
M111K |
probably damaging |
Het |
| Pole2 |
A |
C |
12: 69,255,734 (GRCm39) |
S344A |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,789 (GRCm39) |
T687A |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,114,181 (GRCm38) |
S313P |
probably damaging |
Het |
| Rd3 |
T |
G |
1: 191,715,228 (GRCm39) |
M1R |
probably null |
Het |
| Rtn4ip1 |
G |
A |
10: 43,804,352 (GRCm39) |
V235I |
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,787,719 (GRCm39) |
I635V |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,645,108 (GRCm39) |
E784G |
possibly damaging |
Het |
| Syce2 |
A |
T |
8: 85,613,795 (GRCm39) |
D168V |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,529 (GRCm39) |
S6P |
probably benign |
Het |
| Tbc1d16 |
A |
C |
11: 119,039,784 (GRCm39) |
H675Q |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,327 (GRCm39) |
I371N |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,218,150 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,270 (GRCm39) |
S17P |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,627 (GRCm39) |
N98Y |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,446,891 (GRCm39) |
D515E |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,971,684 (GRCm39) |
I42M |
probably 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 |
|
|
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 |
|
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'- GGTACCTAGCATTCTGCCCATTAG -3'
(R):5'- ATCCATCCGATGATGCCTCC -3'
Sequencing Primer
(F):5'- TGCCCATTAGTAGCCACATG -3'
(R):5'- ATCCGATGATGCCTCCAATGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation