Incidental Mutation 'R7284:Nid1'
| ID |
565897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nid1
|
| Ensembl Gene |
ENSMUSG00000005397 |
| Gene Name |
nidogen 1 |
| Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
| MMRRC Submission |
045392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7284 (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 13663675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 778
(M778K)
|
| 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: M778K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: M778K
| 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: 98.3%
|
| Validation Efficiency |
99% (77/78) |
| 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 |
|---|
| 2900092C05Rik |
G |
T |
7: 12,246,605 (GRCm39) |
E34* |
probably null |
Het |
| 4933421I07Rik |
C |
T |
7: 42,097,404 (GRCm39) |
R30H |
probably damaging |
Het |
| AB124611 |
C |
A |
9: 21,450,400 (GRCm39) |
Q158K |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,628,643 (GRCm39) |
L367Q |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,676,812 (GRCm39) |
K266E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,006,246 (GRCm39) |
D190E |
probably damaging |
Het |
| Angel1 |
G |
T |
12: 86,767,298 (GRCm39) |
D359E |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,846,184 (GRCm39) |
I474T |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,398,008 (GRCm39) |
|
probably null |
Het |
| Best1 |
T |
C |
19: 9,963,737 (GRCm39) |
|
probably null |
Het |
| Bhlha9 |
A |
G |
11: 76,563,492 (GRCm39) |
S40G |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,530,668 (GRCm39) |
R178C |
|
Het |
| Ccnb1ip1 |
A |
G |
14: 51,029,736 (GRCm39) |
Y109H |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,381,715 (GRCm39) |
S1763P |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,300,004 (GRCm39) |
T327A |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,645,648 (GRCm39) |
Y889H |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,908 (GRCm39) |
Y523* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,909,662 (GRCm39) |
D4484V |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,881,302 (GRCm39) |
M2591K |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,180,672 (GRCm39) |
E1715G |
probably benign |
Het |
| Dym |
A |
G |
18: 75,252,242 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,521,453 (GRCm39) |
M439T |
probably benign |
Het |
| Folr1 |
T |
G |
7: 101,508,677 (GRCm39) |
N83H |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,904 (GRCm39) |
L656P |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,779,542 (GRCm39) |
H161R |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,472,017 (GRCm39) |
Y491H |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,883,402 (GRCm39) |
C412S |
possibly damaging |
Het |
| Hmgcr |
A |
C |
13: 96,789,173 (GRCm39) |
V716G |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,479 (GRCm39) |
D799G |
probably damaging |
Het |
| Ikbkb |
T |
C |
8: 23,158,976 (GRCm39) |
T501A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,690 (GRCm39) |
R355* |
probably null |
Het |
| Kcna7 |
T |
A |
7: 45,058,652 (GRCm39) |
I313N |
probably damaging |
Het |
| Kirrel1 |
A |
C |
3: 86,990,694 (GRCm39) |
D709E |
probably benign |
Het |
| Klb |
T |
A |
5: 65,540,821 (GRCm39) |
S971R |
probably benign |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,238 (GRCm39) |
C140* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,309 (GRCm39) |
L334Q |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,059,775 (GRCm39) |
R97* |
probably null |
Het |
| Mgat5b |
T |
C |
11: 116,835,746 (GRCm39) |
S129P |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Myh9 |
G |
A |
15: 77,671,796 (GRCm39) |
R432C |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,144,902 (GRCm39) |
T236A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,804 (GRCm39) |
D2581G |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,363,548 (GRCm39) |
D209G |
probably benign |
Het |
| Nploc4 |
C |
T |
11: 120,307,196 (GRCm39) |
V181I |
possibly damaging |
Het |
| Nrcam |
A |
T |
12: 44,610,817 (GRCm39) |
I506F |
probably damaging |
Het |
| Or52w1 |
T |
A |
7: 105,017,752 (GRCm39) |
M73K |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,331 (GRCm39) |
*172Q |
probably null |
Het |
| Or6c3b |
T |
C |
10: 129,527,220 (GRCm39) |
N230S |
probably benign |
Het |
| Pask |
T |
A |
1: 93,248,391 (GRCm39) |
Q970L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,840,308 (GRCm39) |
I308T |
possibly damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,114,617 (GRCm39) |
L38Q |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,775 (GRCm39) |
T349A |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,400 (GRCm39) |
I551T |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,317 (GRCm39) |
N144S |
possibly damaging |
Het |
| Prss56 |
A |
G |
1: 87,113,123 (GRCm39) |
N179S |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,097,250 (GRCm39) |
L918P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,097 (GRCm39) |
T729I |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,662,308 (GRCm39) |
H942Q |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,006,071 (GRCm39) |
T60A |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,431,498 (GRCm39) |
Y299H |
probably damaging |
Het |
| Spaca3 |
G |
T |
11: 80,754,847 (GRCm39) |
R96L |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,188,081 (GRCm39) |
N495S |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,270 (GRCm39) |
N175S |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
| Tdrd12 |
C |
A |
7: 35,179,561 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,949,837 (GRCm39) |
N604S |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,055,454 (GRCm39) |
F1482L |
probably benign |
Het |
| Trhr2 |
A |
T |
8: 123,087,114 (GRCm39) |
S109T |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,678,562 (GRCm39) |
M841K |
probably damaging |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,347,173 (GRCm39) |
M3138K |
probably benign |
Het |
| Zdhhc4 |
G |
A |
5: 143,307,646 (GRCm39) |
T125I |
probably benign |
Het |
| Zfp239 |
T |
A |
6: 117,848,716 (GRCm39) |
C151* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,382,627 (GRCm39) |
E569K |
not run |
Het |
| Zzef1 |
T |
A |
11: 72,777,516 (GRCm39) |
D1782E |
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 |
|
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'- CTTCTCAAAGTACCACTGAGCC -3'
(R):5'- AGAAAAGGCCACCCTCTTGTC -3'
Sequencing Primer
(F):5'- CTGAGCCAAATCACTGATGTG -3'
(R):5'- AAGGCCACCCTCTTGTCCAATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation