Mutagenetix > Incidental Mutation

Incidental Mutation 'R2195:Nid1'

238324

Institutional Source

Beutler Lab

Gene Symbol

Nid1

Ensembl Gene

ENSMUSG00000005397

Gene Name

nidogen 1

Synonyms

nidogen-1, entactin, entactin 1, entactin-1

MMRRC Submission

040197-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R2195 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13612252-13686849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13650788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 442 (V442L)

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 damaging
Transcript: ENSMUST00000005532
AA Change: V442L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: V442L

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: ENSMUST00000220813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222142

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,991,318 (GRCm39)	V540E	probably benign	Het
Cep295	T	A	9: 15,243,617 (GRCm39)	Q1613L	probably damaging	Het
Cib3	A	T	8: 72,958,257 (GRCm39)	I160N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Coq10b	T	A	1: 55,100,457 (GRCm39)	L47Q	probably damaging	Het
Impg2	T	C	16: 56,080,497 (GRCm39)	V767A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kmt2e	T	C	5: 23,707,194 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,929,563 (GRCm39)	D1681G	probably benign	Het
Or13a21	T	C	7: 139,999,138 (GRCm39)	T183A	possibly damaging	Het
Or8k32	T	C	2: 86,369,247 (GRCm39)	E2G	probably benign	Het
Ppfia1	T	C	7: 144,069,844 (GRCm39)	N363S	probably damaging	Het
Stxbp2	A	G	8: 3,684,615 (GRCm39)		probably null	Het
Tnf	A	G	17: 35,420,089 (GRCm39)		probably null	Het
Zkscan7	T	C	9: 122,724,686 (GRCm39)	F552L	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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCACATGCAACAGAGGC -3'
(R):5'- GATGCTAAACCCATTCTTGAACCC -3'

Sequencing Primer
(F):5'- GGATATCCAGGCTTATGGCACAC -3'
(R):5'- TAAACCCATTCTTGAACCCATCCTG -3'

Posted On

2014-10-02