Incidental Mutation 'IGL02966:Nid1'
ID 365584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nid1
Ensembl Gene ENSMUSG00000005397
Gene Name nidogen 1
Synonyms nidogen-1, entactin, entactin 1, entactin-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # IGL02966
Quality Score
Status
Chromosome 13
Chromosomal Location 13612252-13686849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13656806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 646 (I646V)
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: I646V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: I646V

DomainStartEndE-ValueType
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: ENSMUST00000220813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222142
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 80,463,317 (GRCm39) Y797N possibly damaging Het
Actbl2 G A 13: 111,392,106 (GRCm39) G147E probably damaging Het
Adam18 A T 8: 25,101,165 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,880,556 (GRCm39) V175I probably benign Het
Alox12 T A 11: 70,140,911 (GRCm39) T375S probably damaging Het
Batf2 C A 19: 6,221,819 (GRCm39) Q210K probably damaging Het
Bicd1 T C 6: 149,385,494 (GRCm39) S76P probably damaging Het
Bphl A T 13: 34,247,980 (GRCm39) H251L probably damaging Het
C130074G19Rik C A 1: 184,614,943 (GRCm39) E82D probably damaging Het
Calu A T 6: 29,356,584 (GRCm39) K39* probably null Het
Capns1 T C 7: 29,891,618 (GRCm39) D142G probably damaging Het
Ccr8 T C 9: 119,923,206 (GRCm39) V107A probably damaging Het
Cep170b G A 12: 112,702,878 (GRCm39) G447D possibly damaging Het
Chat C T 14: 32,170,903 (GRCm39) V199M probably damaging Het
Cntnap1 G T 11: 101,075,575 (GRCm39) V918L probably damaging Het
Cyp27a1 A G 1: 74,771,249 (GRCm39) T145A probably benign Het
Dgkq T A 5: 108,804,287 (GRCm39) probably null Het
Dnhd1 A G 7: 105,369,948 (GRCm39) I4458V probably benign Het
Enpp1 T A 10: 24,536,172 (GRCm39) E409D probably damaging Het
Fam78b G T 1: 166,906,457 (GRCm39) L205F probably damaging Het
Foxr2 C A X: 151,913,677 (GRCm39) R183S probably damaging Het
Ganc T C 2: 120,264,129 (GRCm39) S361P probably damaging Het
Gfra4 C A 2: 130,884,560 (GRCm39) A15S possibly damaging Het
Gm8011 A T 14: 42,287,957 (GRCm39) D145V unknown Het
Gnb4 A G 3: 32,639,372 (GRCm39) V307A probably benign Het
Hdac4 A T 1: 91,982,667 (GRCm39) V17E possibly damaging Het
Herc6 G A 6: 57,560,318 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,383 (GRCm39) T1945A probably benign Het
Ica1l A T 1: 60,049,298 (GRCm39) N218K probably damaging Het
Kmt2b A T 7: 30,274,887 (GRCm39) L1939Q probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Marchf8 C T 6: 116,380,499 (GRCm39) R117C probably damaging Het
Megf6 T C 4: 154,338,234 (GRCm39) S327P probably damaging Het
Mocos T G 18: 24,809,668 (GRCm39) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm39) W14R probably benign Het
Mysm1 A T 4: 94,863,523 (GRCm39) D23E probably benign Het
Naa35 T A 13: 59,734,085 (GRCm39) D34E probably benign Het
Nupr1 T C 7: 126,224,073 (GRCm39) probably benign Het
Or2aj6 G T 16: 19,443,051 (GRCm39) H266Q probably damaging Het
Or5b24 A T 19: 12,912,164 (GRCm39) I21F probably benign Het
Or8b12b T G 9: 37,684,882 (GRCm39) L309R probably benign Het
Pcbp2 A C 15: 102,392,684 (GRCm39) probably benign Het
Pde8b T C 13: 95,232,156 (GRCm39) Q158R probably damaging Het
Pdzd8 T C 19: 59,289,291 (GRCm39) Y703C probably damaging Het
Plxnb3 T C X: 72,808,889 (GRCm39) S885P probably benign Het
Poc1b T A 10: 98,980,176 (GRCm39) C136S probably damaging Het
Pole2 T C 12: 69,256,649 (GRCm39) D292G probably damaging Het
Prpf39 T C 12: 65,089,553 (GRCm39) V97A probably benign Het
Rbbp8 T A 18: 11,838,869 (GRCm39) H183Q possibly damaging Het
Scn2a C T 2: 65,532,188 (GRCm39) T600M possibly damaging Het
Spata32 T C 11: 103,099,629 (GRCm39) Q292R possibly damaging Het
Sugp1 T C 8: 70,523,758 (GRCm39) probably benign Het
Sult3a1 A C 10: 33,753,269 (GRCm39) probably benign Het
Tpm3-rs7 C T 14: 113,552,810 (GRCm39) Q235* probably null Het
Trbv2 A T 6: 41,024,685 (GRCm39) T34S possibly damaging Het
Tssk6 A G 8: 70,355,535 (GRCm39) Y193C probably benign Het
Ttn T C 2: 76,538,802 (GRCm39) K34676R possibly damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Wdhd1 T C 14: 47,479,101 (GRCm39) K1072E possibly damaging Het
Other mutations in Nid1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-12-18