Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Nedd9'

232193

Institutional Source

Beutler Lab

Gene Symbol

Nedd9

Ensembl Gene

ENSMUSG00000021365

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 9

Synonyms

Cas-L, HEF1, CasL, E230025G09Rik

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41463392-41640836 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 41492455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 12 (C12*)

Ref Sequence

ENSEMBL: ENSMUSP00000152937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021794] [ENSMUST00000163623] [ENSMUST00000224803]

AlphaFold

O35177

Predicted Effect

probably null
Transcript: ENSMUST00000021794
AA Change: C18*

SMART Domains

Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: C18*

Domain	Start	End	E-Value	Type
SH3	6	64	3.78e-17	SMART
internal_repeat_1	151	218	1.33e-7	PROSPERO
low complexity region	368	396	N/A	INTRINSIC
Pfam:Serine_rich	403	561	3.2e-66	PFAM
Pfam:DUF3513	611	828	1.4e-91	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163623
AA Change: C18*

SMART Domains

Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: C18*

Domain	Start	End	E-Value	Type
SH3	6	64	3.78e-17	SMART
internal_repeat_1	151	218	1.42e-7	PROSPERO
low complexity region	368	396	N/A	INTRINSIC
Pfam:Serine_rich	403	559	2.7e-60	PFAM
Pfam:DUF3513	618	827	1e-81	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000224803
AA Change: C12*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225053

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for one null allele exhibit impaired lymphocyte trafficking and a deficit of splenic marginal zone B cells. Mice homozygous for another null allele display impaired spatial learning and decreased hippocampal dendritic spine densities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het

Other mutations in Nedd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Nedd9	APN	13	41,469,710 (GRCm39)	missense	probably benign	0.00
IGL01412:Nedd9	APN	13	41,469,262 (GRCm39)	nonsense	probably null
IGL01669:Nedd9	APN	13	41,492,111 (GRCm39)	missense	probably damaging	0.99
IGL02543:Nedd9	APN	13	41,470,211 (GRCm39)	missense	probably damaging	1.00
IGL03302:Nedd9	APN	13	41,492,330 (GRCm39)	missense	probably damaging	0.99
hebei	UTSW	13	41,492,455 (GRCm39)	nonsense	probably null
sheep	UTSW	13	41,471,438 (GRCm39)	missense	probably benign	0.33
yanzhao	UTSW	13	41,465,270 (GRCm39)	missense	probably damaging	1.00
R1157:Nedd9	UTSW	13	41,467,979 (GRCm39)	splice site	probably null
R1611:Nedd9	UTSW	13	41,470,406 (GRCm39)	missense	probably benign
R1669:Nedd9	UTSW	13	41,465,270 (GRCm39)	missense	probably damaging	1.00
R1718:Nedd9	UTSW	13	41,492,402 (GRCm39)	missense	probably damaging	1.00
R1775:Nedd9	UTSW	13	41,471,438 (GRCm39)	missense	probably benign	0.33
R1971:Nedd9	UTSW	13	41,492,424 (GRCm39)	missense	probably damaging	1.00
R2341:Nedd9	UTSW	13	41,469,987 (GRCm39)	missense	probably damaging	1.00
R4362:Nedd9	UTSW	13	41,471,429 (GRCm39)	missense	probably damaging	0.99
R4363:Nedd9	UTSW	13	41,471,429 (GRCm39)	missense	probably damaging	0.99
R4707:Nedd9	UTSW	13	41,492,051 (GRCm39)	critical splice donor site	probably null
R4724:Nedd9	UTSW	13	41,470,073 (GRCm39)	missense	possibly damaging	0.50
R4795:Nedd9	UTSW	13	41,471,376 (GRCm39)	missense	probably benign	0.12
R4796:Nedd9	UTSW	13	41,471,376 (GRCm39)	missense	probably benign	0.12
R4853:Nedd9	UTSW	13	41,469,837 (GRCm39)	missense	probably benign	0.01
R4934:Nedd9	UTSW	13	41,492,411 (GRCm39)	missense	probably damaging	1.00
R5020:Nedd9	UTSW	13	41,469,270 (GRCm39)	missense	probably damaging	1.00
R5070:Nedd9	UTSW	13	41,470,074 (GRCm39)	missense	probably benign	0.00
R5585:Nedd9	UTSW	13	41,469,950 (GRCm39)	missense	probably damaging	1.00
R5588:Nedd9	UTSW	13	41,469,437 (GRCm39)	missense	possibly damaging	0.76
R6310:Nedd9	UTSW	13	41,471,928 (GRCm39)	missense	probably benign	0.00
R6634:Nedd9	UTSW	13	41,465,584 (GRCm39)	missense	probably damaging	1.00
R6729:Nedd9	UTSW	13	41,469,278 (GRCm39)	missense	probably damaging	0.99
R7114:Nedd9	UTSW	13	41,492,099 (GRCm39)	missense	probably benign
R7172:Nedd9	UTSW	13	41,470,280 (GRCm39)	missense	probably benign	0.01
R7477:Nedd9	UTSW	13	41,471,956 (GRCm39)	missense	probably benign	0.02
R7665:Nedd9	UTSW	13	41,469,785 (GRCm39)	missense	probably benign	0.01
R7672:Nedd9	UTSW	13	41,492,198 (GRCm39)	missense	possibly damaging	0.69
R7810:Nedd9	UTSW	13	41,465,483 (GRCm39)	missense	possibly damaging	0.52
R7893:Nedd9	UTSW	13	41,469,265 (GRCm39)	missense	probably damaging	1.00
R7952:Nedd9	UTSW	13	41,470,431 (GRCm39)	missense	probably damaging	1.00
R8215:Nedd9	UTSW	13	41,492,319 (GRCm39)	missense	probably benign	0.14
R8399:Nedd9	UTSW	13	41,471,950 (GRCm39)	nonsense	probably null
R8959:Nedd9	UTSW	13	41,469,758 (GRCm39)	missense	probably damaging	0.98
R9039:Nedd9	UTSW	13	41,471,984 (GRCm39)	missense	probably damaging	1.00
R9236:Nedd9	UTSW	13	41,492,153 (GRCm39)	missense	possibly damaging	0.86
R9663:Nedd9	UTSW	13	41,469,941 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGCCTGGGAATTTGGC -3'
(R):5'- CCTTCTGACAGGCTAGTGTTC -3'

Sequencing Primer
(F):5'- CCAAAGGTCTGATGCATAGGTCC -3'
(R):5'- CTGACAGGCTAGTGTTCATATTTC -3'

Posted On

2014-09-18