Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Nid1'

597965

Institutional Source

Beutler Lab

Gene Symbol

Nid1

Ensembl Gene

ENSMUSG00000005397

Gene Name

nidogen 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13437551-13512269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13489045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 763 (G763D)

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: G763D

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

SMART Domains

Protein: ENSMUSP00000005532
Gene: ENSMUSG00000005397
AA Change: G763D

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	Het

Other mutations in Nid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Nid1	APN	13	13476392	missense	probably damaging	1.00
IGL02126:Nid1	APN	13	13489158	splice site	probably null
IGL02452:Nid1	APN	13	13508720	missense	probably benign	0.17
IGL02806:Nid1	APN	13	13468312	missense	probably benign	0.00
IGL02966:Nid1	APN	13	13482221	missense	probably benign	0.09
IGL03136:Nid1	APN	13	13500499	missense	probably benign	0.33
IGL03411:Nid1	APN	13	13437889	missense	probably damaging	0.98
R0384:Nid1	UTSW	13	13463836	missense	probably benign	0.34
R0413:Nid1	UTSW	13	13482096	missense	probably benign	0.01
R1257:Nid1	UTSW	13	13483790	missense	probably benign	0.01
R1390:Nid1	UTSW	13	13476246	missense	probably damaging	1.00
R1397:Nid1	UTSW	13	13508795	missense	possibly damaging	0.94
R2057:Nid1	UTSW	13	13500473	missense	probably benign	0.00
R2058:Nid1	UTSW	13	13500473	missense	probably benign	0.00
R2059:Nid1	UTSW	13	13500473	missense	probably benign	0.00
R2132:Nid1	UTSW	13	13509486	missense	probably benign	0.04
R2140:Nid1	UTSW	13	13499668	missense	probably damaging	1.00
R2195:Nid1	UTSW	13	13476203	missense	probably damaging	1.00
R2237:Nid1	UTSW	13	13500485	missense	probably benign
R2312:Nid1	UTSW	13	13500493	missense	probably benign	0.15
R2987:Nid1	UTSW	13	13499673	missense	probably benign	0.40
R3696:Nid1	UTSW	13	13486759	missense	probably damaging	0.99
R3697:Nid1	UTSW	13	13486759	missense	probably damaging	0.99
R3698:Nid1	UTSW	13	13486759	missense	probably damaging	0.99
R3772:Nid1	UTSW	13	13476418	splice site	probably benign
R4092:Nid1	UTSW	13	13486639	missense	probably damaging	0.96
R4126:Nid1	UTSW	13	13476372	missense	probably damaging	1.00
R4128:Nid1	UTSW	13	13476372	missense	probably damaging	1.00
R4680:Nid1	UTSW	13	13472852	missense	probably damaging	1.00
R4717:Nid1	UTSW	13	13506501	missense	probably benign	0.00
R4783:Nid1	UTSW	13	13499741	missense	probably damaging	0.97
R4812:Nid1	UTSW	13	13506468	nonsense	probably null
R4834:Nid1	UTSW	13	13508823	missense	probably damaging	1.00
R4915:Nid1	UTSW	13	13499586	missense	possibly damaging	0.89
R4930:Nid1	UTSW	13	13510011	missense	probably damaging	1.00
R5101:Nid1	UTSW	13	13483754	missense	probably damaging	1.00
R5276:Nid1	UTSW	13	13468572	missense	probably damaging	0.99
R5427:Nid1	UTSW	13	13483683	missense	probably damaging	1.00
R5447:Nid1	UTSW	13	13437910	missense	probably benign	0.00
R5507:Nid1	UTSW	13	13489037	nonsense	probably null
R5663:Nid1	UTSW	13	13472834	missense	probably damaging	1.00
R5868:Nid1	UTSW	13	13489157	critical splice donor site	probably null
R6313:Nid1	UTSW	13	13463782	missense	probably benign	0.01
R6761:Nid1	UTSW	13	13482035	missense	probably benign	0.22
R7069:Nid1	UTSW	13	13508768	missense	probably benign
R7208:Nid1	UTSW	13	13468385	missense	probably benign	0.01
R7284:Nid1	UTSW	13	13489090	missense	probably benign	0.01
R7434:Nid1	UTSW	13	13468464	missense	probably benign
R7449:Nid1	UTSW	13	13482051	missense	probably damaging	1.00
R7574:Nid1	UTSW	13	13468443	missense	probably benign
R7887:Nid1	UTSW	13	13499733	missense	possibly damaging	0.83
R8420:Nid1	UTSW	13	13437831	missense	possibly damaging	0.81
R8506:Nid1	UTSW	13	13476174	missense	probably damaging	0.99
R8756:Nid1	UTSW	13	13508801	missense	probably benign	0.32
R8903:Nid1	UTSW	13	13463930	missense	probably benign	0.00
R9084:Nid1	UTSW	13	13478340	critical splice donor site	probably null
R9297:Nid1	UTSW	13	13476312	missense	possibly damaging	0.92
R9344:Nid1	UTSW	13	13478309	missense	probably damaging	1.00
R9552:Nid1	UTSW	13	13502460	missense	probably damaging	0.99
X0028:Nid1	UTSW	13	13509534	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGGCAGAATCCAGACATTGTC -3'
(R):5'- GGCACAAAAGGAGCACATGTTC -3'

Sequencing Primer
(F):5'- AGACATTGTCCCCTTCTCAAAG -3'
(R):5'- GGAGCACATGTTCCTTATATACAGGG -3'

Posted On

2019-11-26