Incidental Mutation 'R8903:Nid1'
| ID |
678328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
068760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R8903 (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 A
at 13638515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 145
(V145D)
|
| 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: V145D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: V145D
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
97% (74/76) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,815,526 (GRCm39) |
F258S |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,602,959 (GRCm39) |
Y518C |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,840,431 (GRCm39) |
N274K |
probably damaging |
Het |
| Ankrd31 |
C |
T |
13: 96,969,329 (GRCm39) |
L989F |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,825,463 (GRCm39) |
R354G |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,934,834 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
T |
C |
1: 10,211,838 (GRCm39) |
Y1735C |
probably damaging |
Het |
| B3gnt8 |
G |
A |
7: 25,328,659 (GRCm39) |
G363D |
probably benign |
Het |
| Calcrl |
T |
C |
2: 84,203,729 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
A |
T |
19: 40,797,726 (GRCm39) |
D782V |
unknown |
Het |
| Ccdc162 |
A |
G |
10: 41,531,440 (GRCm39) |
|
probably null |
Het |
| Cdkal1 |
A |
T |
13: 29,809,918 (GRCm39) |
*219R |
probably null |
Het |
| Clcnkb |
A |
T |
4: 141,135,160 (GRCm39) |
V526D |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,821,074 (GRCm39) |
C162S |
probably damaging |
Het |
| Coq2 |
A |
G |
5: 100,811,656 (GRCm39) |
|
probably benign |
Het |
| D6Wsu163e |
T |
A |
6: 126,931,778 (GRCm39) |
L270Q |
probably damaging |
Het |
| Dennd10 |
C |
T |
19: 60,823,423 (GRCm39) |
Q353* |
probably null |
Het |
| Dnhd1 |
C |
T |
7: 105,362,855 (GRCm39) |
Q3806* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,394,518 (GRCm39) |
F261L |
probably benign |
Het |
| Fes |
C |
T |
7: 80,036,559 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,807,681 (GRCm39) |
D1333E |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm5113 |
T |
C |
7: 29,878,292 (GRCm39) |
F127L |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,066,697 (GRCm39) |
S596P |
possibly damaging |
Het |
| Gsk3a |
A |
G |
7: 24,936,814 (GRCm39) |
V91A |
possibly damaging |
Het |
| Gss |
T |
C |
2: 155,420,279 (GRCm39) |
K141E |
probably damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,366,530 (GRCm39) |
|
probably null |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,825 (GRCm39) |
Y42C |
probably damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,877,170 (GRCm39) |
I78N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,379,382 (GRCm39) |
S110N |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,012,781 (GRCm39) |
|
probably benign |
Het |
| Magel2 |
G |
T |
7: 62,029,441 (GRCm39) |
A782S |
unknown |
Het |
| Map1b |
C |
A |
13: 99,569,017 (GRCm39) |
E1235* |
probably null |
Het |
| Mcpt1 |
A |
C |
14: 56,257,520 (GRCm39) |
H222P |
probably benign |
Het |
| Met |
T |
A |
6: 17,549,137 (GRCm39) |
N996K |
probably benign |
Het |
| Mia |
C |
A |
7: 26,880,230 (GRCm39) |
Q52H |
probably damaging |
Het |
| Mia |
T |
A |
7: 26,880,231 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Myh7 |
T |
A |
14: 55,230,228 (GRCm39) |
K35* |
probably null |
Het |
| Myt1l |
T |
A |
12: 29,861,468 (GRCm39) |
D83E |
unknown |
Het |
| Nbl1 |
A |
G |
4: 138,810,861 (GRCm39) |
V111A |
probably damaging |
Het |
| Nif3l1 |
C |
T |
1: 58,486,653 (GRCm39) |
|
probably benign |
Het |
| Npnt |
T |
C |
3: 132,591,764 (GRCm39) |
Y500C |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,144,676 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
T |
A |
9: 48,310,250 (GRCm39) |
D504E |
probably damaging |
Het |
| Obsl1 |
A |
G |
1: 75,463,917 (GRCm39) |
V1696A |
possibly damaging |
Het |
| Or56a3 |
A |
T |
7: 104,735,329 (GRCm39) |
R135S |
possibly damaging |
Het |
| Or8s2 |
A |
T |
15: 98,276,475 (GRCm39) |
I172N |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,900,821 (GRCm39) |
H224L |
probably benign |
Het |
| Pald1 |
A |
T |
10: 61,182,815 (GRCm39) |
|
probably null |
Het |
| Pard6g |
C |
T |
18: 80,160,411 (GRCm39) |
R175* |
probably null |
Het |
| Pisd |
A |
G |
5: 32,895,755 (GRCm39) |
I271T |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,472,796 (GRCm39) |
S459G |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,165,945 (GRCm39) |
C328S |
unknown |
Het |
| Psme1 |
A |
G |
14: 55,817,853 (GRCm39) |
E120G |
|
Het |
| Pum3 |
A |
T |
19: 27,397,457 (GRCm39) |
M306K |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,040,992 (GRCm39) |
F423L |
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,614,071 (GRCm39) |
D118G |
probably damaging |
Het |
| Rnf14 |
A |
G |
18: 38,446,267 (GRCm39) |
K357E |
probably benign |
Het |
| Rpl23a |
T |
C |
11: 78,073,720 (GRCm39) |
I40V |
probably benign |
Het |
| Slc5a5 |
A |
T |
8: 71,345,227 (GRCm39) |
S27T |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,277,595 (GRCm39) |
L670Q |
probably damaging |
Het |
| Snorc |
C |
T |
1: 87,402,826 (GRCm39) |
T52I |
probably damaging |
Het |
| Sst |
T |
A |
16: 23,708,499 (GRCm39) |
K111* |
probably null |
Het |
| Stxbp4 |
A |
G |
11: 90,426,267 (GRCm39) |
S514P |
unknown |
Het |
| Susd1 |
T |
A |
4: 59,390,576 (GRCm39) |
T300S |
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,150,845 (GRCm39) |
|
probably benign |
Het |
| Tmem185b |
C |
T |
1: 119,454,198 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,699 (GRCm39) |
F305I |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,750,113 (GRCm39) |
D689E |
probably damaging |
Het |
| Tut4 |
A |
T |
4: 108,336,408 (GRCm39) |
D44V |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,878,421 (GRCm39) |
D615G |
probably damaging |
Het |
| Vmn1r209 |
A |
G |
13: 22,990,684 (GRCm39) |
V2A |
probably benign |
Het |
| Vmn2r80 |
A |
C |
10: 79,017,928 (GRCm39) |
E551A |
probably damaging |
Het |
| Wac |
G |
T |
18: 7,926,104 (GRCm39) |
E636* |
probably null |
Het |
| Wdr53 |
T |
A |
16: 32,071,130 (GRCm39) |
D158E |
probably damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,270,152 (GRCm39) |
V80A |
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 |
|
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 |
|
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'- CCACAAATGGTATCATCGCCATG -3'
(R):5'- TGTCTTGAGCAACAGGATAGGC -3'
Sequencing Primer
(F):5'- GCCATGAGCGAACCCCC -3'
(R):5'- ACAGGATAGGCATGTTGTCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation