Incidental Mutation 'R7208:Nid1'
| ID |
560881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
045285-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 13642970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 303
(G303R)
|
| 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: G303R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: G303R
| 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: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
99% (76/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,074,629 (GRCm39) |
K854E |
probably damaging |
Het |
| Abcd2 |
G |
T |
15: 91,074,885 (GRCm39) |
Y309* |
probably null |
Het |
| Ache |
G |
A |
5: 137,289,751 (GRCm39) |
G360D |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,361 (GRCm39) |
L396P |
probably benign |
Het |
| Acox2 |
T |
G |
14: 8,241,303 (GRCm38) |
D603A |
probably benign |
Het |
| Adam3 |
C |
A |
8: 25,201,417 (GRCm39) |
K245N |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,758,081 (GRCm39) |
I925T |
probably benign |
Het |
| Arhgap27 |
C |
T |
11: 103,251,585 (GRCm39) |
V48M |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,423,308 (GRCm39) |
|
probably null |
Het |
| B4galt4 |
T |
A |
16: 38,574,302 (GRCm39) |
F92Y |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,837,159 (GRCm39) |
R891Q |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,687,612 (GRCm39) |
Q462R |
probably benign |
Het |
| Ccdc112 |
T |
C |
18: 46,420,698 (GRCm39) |
R351G |
probably damaging |
Het |
| Ccdc80 |
T |
G |
16: 44,917,073 (GRCm39) |
S610A |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 104,881,796 (GRCm39) |
N420K |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,255,383 (GRCm39) |
R172* |
probably null |
Het |
| Ctnnd1 |
G |
T |
2: 84,452,390 (GRCm39) |
Q78K |
possibly damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,814 (GRCm39) |
L41H |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,706,909 (GRCm39) |
|
probably null |
Het |
| Dmwd |
C |
T |
7: 18,814,234 (GRCm39) |
H295Y |
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,647,988 (GRCm39) |
V588A |
unknown |
Het |
| Dnai4 |
T |
G |
4: 102,923,549 (GRCm39) |
I427L |
probably benign |
Het |
| Dtx4 |
C |
T |
19: 12,459,437 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
C |
A |
9: 7,141,059 (GRCm39) |
D1323Y |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,803,446 (GRCm39) |
H1683Q |
probably benign |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Gm9195 |
A |
G |
14: 72,689,192 (GRCm39) |
S1876P |
possibly damaging |
Het |
| Grhl2 |
A |
C |
15: 37,335,980 (GRCm39) |
K431T |
probably damaging |
Het |
| Grm7 |
T |
G |
6: 111,335,530 (GRCm39) |
I647S |
possibly damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,439,948 (GRCm39) |
N94S |
probably benign |
Het |
| Gvin2 |
A |
C |
7: 105,551,386 (GRCm39) |
S555R |
possibly damaging |
Het |
| Hmgcs1 |
G |
T |
13: 120,162,620 (GRCm39) |
G195W |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,985,989 (GRCm39) |
Y380F |
possibly damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,409,665 (GRCm39) |
Q863* |
probably null |
Het |
| Lemd2 |
G |
A |
17: 27,415,165 (GRCm39) |
P300L |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,773,172 (GRCm39) |
Y665* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,166,564 (GRCm39) |
T653A |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,286,387 (GRCm39) |
T8A |
unknown |
Het |
| Mcm5 |
T |
C |
8: 75,848,344 (GRCm39) |
|
probably null |
Het |
| Med28 |
A |
T |
5: 45,680,794 (GRCm39) |
D86V |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,615,725 (GRCm39) |
S171P |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,370,542 (GRCm39) |
F383L |
probably benign |
Het |
| Nkain3 |
A |
G |
4: 20,282,892 (GRCm39) |
V147A |
probably benign |
Het |
| Or12k8 |
A |
G |
2: 36,975,670 (GRCm39) |
V30A |
probably benign |
Het |
| Pde9a |
G |
A |
17: 31,639,258 (GRCm39) |
V63I |
possibly damaging |
Het |
| Pdlim2 |
T |
A |
14: 70,411,826 (GRCm39) |
I69F |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
T |
C |
15: 66,476,638 (GRCm39) |
I245T |
probably benign |
Het |
| Prmt8 |
C |
T |
6: 127,666,792 (GRCm39) |
R394H |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,355,430 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,067,994 (GRCm39) |
D274E |
unknown |
Het |
| Psmd6 |
A |
T |
14: 14,112,225 (GRCm38) |
|
probably null |
Het |
| Rgs16 |
T |
C |
1: 153,617,416 (GRCm39) |
L69P |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,336,020 (GRCm39) |
I482N |
probably damaging |
Het |
| Scara3 |
C |
T |
14: 66,168,715 (GRCm39) |
V301I |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,553 (GRCm39) |
H397L |
probably benign |
Het |
| Skint11 |
T |
A |
4: 114,088,944 (GRCm39) |
L246Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,396,536 (GRCm39) |
R1212S |
unknown |
Het |
| Slc11a2 |
T |
C |
15: 100,300,213 (GRCm39) |
D348G |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,643 (GRCm39) |
K495E |
probably benign |
Het |
| Son |
T |
G |
16: 91,458,990 (GRCm39) |
D2072E |
unknown |
Het |
| Stau1 |
A |
G |
2: 166,805,494 (GRCm39) |
V34A |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 35,073,262 (GRCm39) |
L153I |
possibly damaging |
Het |
| Swi5 |
A |
T |
2: 32,177,922 (GRCm39) |
V13E |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,078,172 (GRCm39) |
|
probably null |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,062,013 (GRCm39) |
|
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,667,151 (GRCm39) |
V149A |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,028,065 (GRCm39) |
V95E |
possibly damaging |
Het |
| Tnnt2 |
T |
A |
1: 135,778,114 (GRCm39) |
|
probably null |
Het |
| Txlna |
A |
G |
4: 129,525,071 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,948 (GRCm39) |
I841T |
probably damaging |
Het |
| Wasf2 |
G |
A |
4: 132,923,045 (GRCm39) |
V452I |
probably damaging |
Het |
| Wdr62 |
C |
T |
7: 29,951,761 (GRCm39) |
D673N |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,518,836 (GRCm39) |
T559I |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,726,937 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,051,856 (GRCm39) |
E646G |
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 |
|
|
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'- TTCCTTGCCTCTAGGAGCAG -3'
(R):5'- AAAATGGATGTCTTACCAACTCCTG -3'
Sequencing Primer
(F):5'- TTGCCTCTAGGAGCAGCAACG -3'
(R):5'- TTCATCCACATCAATGACCTGGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation