Mutagenetix > Incidental Mutation

Incidental Mutation 'R7574:Nid1'

586266

Institutional Source

Beutler Lab

Gene Symbol

Nid1

Ensembl Gene

ENSMUSG00000005397

Gene Name

nidogen 1

Synonyms

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

MMRRC Submission

045660-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R7574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13612252-13686849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13643028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 322 (D322G)

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: D322G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: D322G

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: 98.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,478 (GRCm39)	V240A	probably damaging	Het
A930009A15Rik	C	T	10: 115,406,019 (GRCm39)		probably benign	Het
Aarsd1	A	G	11: 101,301,970 (GRCm39)	I201T	probably damaging	Het
Acaca	T	A	11: 84,152,414 (GRCm39)	Y854N	probably benign	Het
Adra2c	T	C	5: 35,437,759 (GRCm39)	L177P	probably damaging	Het
Akr1c12	A	T	13: 4,329,309 (GRCm39)	I16N	probably damaging	Het
Aldh8a1	A	T	10: 21,256,729 (GRCm39)	I47F	possibly damaging	Het
Birc6	A	G	17: 74,886,879 (GRCm39)	I736V	probably benign	Het
Bmp2	A	T	2: 133,402,817 (GRCm39)	M123L	probably benign	Het
C1ql1	T	C	11: 102,836,812 (GRCm39)	Y159C	probably damaging	Het
Ccdc148	T	C	2: 58,713,645 (GRCm39)	Y502C	probably damaging	Het
Ccdc168	A	T	1: 44,098,593 (GRCm39)	V835E	possibly damaging	Het
Cenpf	A	T	1: 189,390,864 (GRCm39)	N989K	probably damaging	Het
Ciz1	A	G	2: 32,257,380 (GRCm39)	M142V	probably benign	Het
Cnot4	T	C	6: 35,029,939 (GRCm39)	R320G	possibly damaging	Het
Cyth1	G	T	11: 118,073,689 (GRCm39)	H215N	probably damaging	Het
Dapk1	G	A	13: 60,908,987 (GRCm39)	G1200D	probably damaging	Het
Dhps	A	G	8: 85,799,181 (GRCm39)	Y103C	probably damaging	Het
Dnah1	T	A	14: 31,041,865 (GRCm39)	E35D	probably benign	Het
Dnajb9	A	T	12: 44,254,169 (GRCm39)	D79E	probably damaging	Het
Eif4a2	T	C	16: 22,928,877 (GRCm39)	F164S	probably benign	Het
Enpp2	T	C	15: 54,714,813 (GRCm39)	T595A	probably benign	Het
Exoc6b	T	A	6: 84,768,366 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,221,391 (GRCm39)	S286P	probably damaging	Het
Fermt2	T	A	14: 45,706,782 (GRCm39)	N338I	probably damaging	Het
Fhdc1	A	G	3: 84,353,438 (GRCm39)	F596L	probably benign	Het
Fry	T	C	5: 150,304,359 (GRCm39)	V583A	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdap1	T	A	1: 17,231,665 (GRCm39)	F337I	possibly damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gpr6	A	T	10: 40,946,652 (GRCm39)	I310N	possibly damaging	Het
Gpsm2	G	A	3: 108,608,061 (GRCm39)	A239V	probably damaging	Het
Hexa	T	C	9: 59,471,267 (GRCm39)	V507A	probably benign	Het
Hmcn2	A	T	2: 31,345,531 (GRCm39)	H4718L	possibly damaging	Het
Hrh4	T	C	18: 13,154,970 (GRCm39)	F170L	possibly damaging	Het
Ica1	T	C	6: 8,658,266 (GRCm39)	T284A	probably benign	Het
Itga5	T	C	15: 103,258,876 (GRCm39)	N774S	probably damaging	Het
Itgb2	T	C	10: 77,395,992 (GRCm39)	S556P	probably benign	Het
Kash5	A	T	7: 44,854,035 (GRCm39)	H31Q	possibly damaging	Het
Kcnq4	A	G	4: 120,568,565 (GRCm39)	F384L	probably benign	Het
Lama2	A	T	10: 26,882,726 (GRCm39)	N2612K	probably benign	Het
Lnx1	T	C	5: 74,846,099 (GRCm39)	E117G	probably benign	Het
Lrrc14b	G	T	13: 74,508,892 (GRCm39)	A505E	probably damaging	Het
Ly6g	T	C	15: 75,030,413 (GRCm39)	I77T	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgpre	C	T	7: 143,335,087 (GRCm39)	V139M	probably damaging	Het
Muc4	T	A	16: 32,753,411 (GRCm38)	S1096T	probably benign	Het
Myrfl	G	A	10: 116,667,430 (GRCm39)	R337*	probably null	Het
Ndufa4	C	T	6: 11,906,092 (GRCm39)	V20I	probably benign	Het
Nf1	A	G	11: 79,299,595 (GRCm39)	D241G	probably null	Het
Nova1	A	T	12: 46,747,544 (GRCm39)	D244E	unknown	Het
Or11g27	T	A	14: 50,771,770 (GRCm39)	D300E	probably benign	Het
Or4a68	T	C	2: 89,269,745 (GRCm39)	K293E	possibly damaging	Het
Or5m10b	A	G	2: 85,699,350 (GRCm39)	K138R	probably benign	Het
Padi2	C	A	4: 140,676,648 (GRCm39)	N595K	possibly damaging	Het
Pag1	A	G	3: 9,758,951 (GRCm39)	I389T	probably damaging	Het
Pcdh10	G	T	3: 45,335,810 (GRCm39)	G708V	possibly damaging	Het
Pecam1	A	G	11: 106,590,610 (GRCm39)	S55P	probably damaging	Het
Plin3	A	T	17: 56,591,192 (GRCm39)	V196E	possibly damaging	Het
Plxdc1	A	T	11: 97,847,316 (GRCm39)	L119Q	possibly damaging	Het
Pnliprp1	A	T	19: 58,726,681 (GRCm39)	N346I	probably damaging	Het
Ppp1r27	A	T	11: 120,441,856 (GRCm39)	Y8*	probably null	Het
Prg3	A	T	2: 84,819,746 (GRCm39)	D80V	probably damaging	Het
Prmt5	T	C	14: 54,745,347 (GRCm39)	N607D	possibly damaging	Het
Ptprs	A	G	17: 56,730,538 (GRCm39)	F1144L	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rap1gds1	T	A	3: 138,661,976 (GRCm39)	R427*	probably null	Het
Recql5	A	G	11: 115,819,248 (GRCm39)	V106A	probably benign	Het
Resp18	T	C	1: 75,250,615 (GRCm39)	T155A	probably benign	Het
Rfx6	A	G	10: 51,557,914 (GRCm39)	D129G	probably benign	Het
Rsf1	T	A	7: 97,310,374 (GRCm39)	I368K		Het
Sema6a	C	G	18: 47,424,231 (GRCm39)	V226L	probably damaging	Het
Sf1	A	G	19: 6,422,234 (GRCm39)	E220G	probably damaging	Het
Shld2	C	T	14: 33,959,423 (GRCm39)	S853N	probably damaging	Het
Sidt1	T	A	16: 44,079,848 (GRCm39)	Y602F	probably damaging	Het
Slc17a8	A	G	10: 89,428,008 (GRCm39)	I273T	probably benign	Het
Slc28a2b	A	T	2: 122,353,325 (GRCm39)	I502F	not run	Het
Slc41a1	A	T	1: 131,766,889 (GRCm39)	I136F	probably damaging	Het
Snrpb	T	C	2: 130,018,939 (GRCm39)	I51V	probably benign	Het
Sprr2f	T	A	3: 92,273,254 (GRCm39)	C18S	unknown	Het
Stab1	T	C	14: 30,876,622 (GRCm39)	N864S	probably benign	Het
Svil	C	A	18: 5,095,188 (GRCm39)	T1457K	probably benign	Het
Syt1	A	T	10: 108,340,262 (GRCm39)	I352N	probably damaging	Het
Tas2r119	A	G	15: 32,178,279 (GRCm39)	K282E	probably damaging	Het
Timeless	T	C	10: 128,080,538 (GRCm39)	F473S	probably damaging	Het
Tmc3	A	G	7: 83,247,481 (GRCm39)	D192G	probably damaging	Het
Trmt1l	T	A	1: 151,316,591 (GRCm39)	I184N	possibly damaging	Het
Ttll6	G	A	11: 96,025,701 (GRCm39)	V61M	probably damaging	Het
Ttn	C	T	2: 76,632,755 (GRCm39)	E14100K	probably damaging	Het
Txndc2	T	A	17: 65,945,620 (GRCm39)	I186F	possibly damaging	Het
Ubr1	A	T	2: 120,703,672 (GRCm39)	S1553T	possibly damaging	Het
Vmn1r208	T	C	13: 22,956,705 (GRCm39)	N264S	probably benign	Het
Vmn1r87	T	A	7: 12,865,613 (GRCm39)	M225L	probably benign	Het
Vmn2r101	T	A	17: 19,831,899 (GRCm39)	C632S	possibly damaging	Het
Wdr97	T	A	15: 76,241,949 (GRCm39)	Y747*	probably null	Het
Zfp474	T	C	18: 52,772,261 (GRCm39)	S305P	probably benign	Het
Zfp59	A	G	7: 27,552,863 (GRCm39)	N105S	probably benign	Het
Zfp804b	T	A	5: 6,822,301 (GRCm39)	Y254F	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
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
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'- TTGAGATTGGAAGTCCTGCTACC -3'
(R):5'- CCTGTCTAGAAACCAAGCAGGC -3'

Sequencing Primer
(F):5'- GAAGTCCTGCTACCGCCAAG -3'
(R):5'- CCAACTCGTAAAATGGATGTCTTACC -3'

Posted On

2019-10-24