Incidental Mutation 'R2312:Nid1'
ID |
247363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nid1
|
Ensembl Gene |
ENSMUSG00000005397 |
Gene Name |
nidogen 1 |
Synonyms |
nidogen-1, entactin, entactin 1, entactin-1 |
MMRRC Submission |
040311-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R2312 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
13612252-13686849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13675078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 933
(T933A)
|
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: T933A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000005532 Gene: ENSMUSG00000005397 AA Change: T933A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222142
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp12 |
A |
G |
1: 92,934,531 (GRCm39) |
E136G |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,616,995 (GRCm39) |
T179A |
probably damaging |
Het |
Cdhr4 |
G |
A |
9: 107,872,486 (GRCm39) |
V244I |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crygf |
A |
T |
1: 65,965,717 (GRCm39) |
M1L |
probably benign |
Het |
Dapk1 |
G |
T |
13: 60,905,167 (GRCm39) |
C959F |
probably damaging |
Het |
Dop1a |
C |
G |
9: 86,403,495 (GRCm39) |
S1565* |
probably null |
Het |
Eya4 |
A |
G |
10: 22,982,163 (GRCm39) |
S622P |
probably damaging |
Het |
Fbln1 |
T |
C |
15: 85,147,549 (GRCm39) |
V598A |
probably benign |
Het |
Gldc |
A |
T |
19: 30,078,226 (GRCm39) |
F924I |
probably damaging |
Het |
H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
Herc1 |
C |
A |
9: 66,415,563 (GRCm39) |
S4846* |
probably null |
Het |
Jmjd1c |
A |
T |
10: 67,074,629 (GRCm39) |
K1917N |
probably damaging |
Het |
Kcnh2 |
A |
G |
5: 24,529,952 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
T |
C |
5: 144,110,444 (GRCm39) |
F388S |
probably damaging |
Het |
Lpar1 |
A |
C |
4: 58,487,168 (GRCm39) |
Y34* |
probably null |
Het |
Lrpprc |
G |
A |
17: 85,080,686 (GRCm39) |
P180S |
probably damaging |
Het |
Mex3a |
A |
G |
3: 88,443,785 (GRCm39) |
H287R |
probably damaging |
Het |
Or52r1c |
A |
G |
7: 102,735,633 (GRCm39) |
T298A |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,475,250 (GRCm39) |
T129A |
probably benign |
Het |
Pfkm |
T |
A |
15: 98,023,456 (GRCm39) |
Y385N |
probably damaging |
Het |
Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
Prx |
T |
C |
7: 27,216,051 (GRCm39) |
V184A |
possibly damaging |
Het |
Ptgdr |
A |
C |
14: 45,096,619 (GRCm39) |
L31R |
probably damaging |
Het |
Rab3b |
A |
G |
4: 108,747,691 (GRCm39) |
T63A |
probably damaging |
Het |
Rassf1 |
T |
C |
9: 107,434,749 (GRCm39) |
M156T |
probably damaging |
Het |
Rhobtb1 |
C |
A |
10: 69,106,293 (GRCm39) |
S286* |
probably null |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,377,466 (GRCm39) |
M71K |
probably benign |
Het |
Rnf130 |
T |
A |
11: 49,978,290 (GRCm39) |
|
probably null |
Het |
Rxrb |
T |
A |
17: 34,251,103 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,753,128 (GRCm39) |
T1731K |
probably damaging |
Het |
Serpine2 |
A |
T |
1: 79,780,570 (GRCm39) |
L293Q |
probably damaging |
Het |
Skint6 |
T |
C |
4: 113,095,339 (GRCm39) |
T107A |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,293,196 (GRCm39) |
H181Q |
probably benign |
Het |
Spaca3 |
A |
T |
11: 80,754,037 (GRCm39) |
Y58F |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,104,249 (GRCm39) |
T152A |
probably damaging |
Het |
Tlr2 |
A |
G |
3: 83,744,847 (GRCm39) |
L412P |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,974,941 (GRCm39) |
S84P |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trpm2 |
C |
A |
10: 77,754,798 (GRCm39) |
E1229D |
probably benign |
Het |
Ttc14 |
A |
G |
3: 33,861,984 (GRCm39) |
|
probably null |
Het |
Tyrp1 |
G |
A |
4: 80,755,801 (GRCm39) |
W190* |
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vegfb |
C |
A |
19: 6,962,795 (GRCm39) |
R160L |
possibly damaging |
Het |
Vmn1r220 |
A |
G |
13: 23,368,147 (GRCm39) |
M183T |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Wnt10a |
C |
A |
1: 74,842,589 (GRCm39) |
A355E |
possibly 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 |
|
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 |
|
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'- ATGTAGATGGGTGCATGAGC -3'
(R):5'- TAACTATCTTGGTAGCCAGGCCC -3'
Sequencing Primer
(F):5'- GCATGAGCACATATACACATATCTTC -3'
(R):5'- CCTATTACTGGGACTGTCACCAGAG -3'
|
Posted On |
2014-11-11 |