Mutagenetix > Incidental Mutation

Incidental Mutation 'R7457:Dok5'

578184

Institutional Source

Beutler Lab

Gene Symbol

Dok5

Ensembl Gene

ENSMUSG00000027560

Gene Name

docking protein 5

Synonyms

2700055C10Rik

MMRRC Submission

045531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170573727-170721689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 170712735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 247 (Q247L)

Ref Sequence

ENSEMBL: ENSMUSP00000029075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029075]

AlphaFold

Q91ZM9

Predicted Effect

probably benign
Transcript: ENSMUST00000029075
AA Change: Q247L

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

SMART Domains

Protein: ENSMUSP00000029075
Gene: ENSMUSG00000027560
AA Change: Q247L

Domain	Start	End	E-Value	Type
PH	8	114	2.37e-6	SMART
PTBI	130	232	2.36e-36	SMART
IRS	135	232	2.86e-38	SMART

Meta Mutation Damage Score

0.1154

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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 DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,374,635 (GRCm39)	H452Q	probably damaging	Het
Adcy8	A	T	15: 64,792,529 (GRCm39)	N142K	possibly damaging	Het
Alkbh8	T	A	9: 3,343,056 (GRCm39)	S57R	probably damaging	Het
Atp4a	A	G	7: 30,420,192 (GRCm39)	T780A	probably benign	Het
Atp9b	A	T	18: 80,960,833 (GRCm39)		probably null	Het
Cdyl2	A	T	8: 117,305,935 (GRCm39)	V442E	probably damaging	Het
Ces2a	C	T	8: 105,464,021 (GRCm39)	R218C	possibly damaging	Het
Cfap57	A	T	4: 118,446,198 (GRCm39)	V688E	probably damaging	Het
Clec11a	T	C	7: 43,955,379 (GRCm39)	T139A	probably benign	Het
Clstn1	A	T	4: 149,719,373 (GRCm39)	T411S	probably benign	Het
Commd5	A	T	15: 76,784,824 (GRCm39)	S74C	probably damaging	Het
Cyp3a59	C	A	5: 146,041,560 (GRCm39)	P368Q	probably damaging	Het
Dennd4b	A	G	3: 90,176,622 (GRCm39)	M309V	probably benign	Het
Dhrs9	T	A	2: 69,231,611 (GRCm39)	V257E	probably benign	Het
Dhx16	T	C	17: 36,201,952 (GRCm39)	V993A	probably damaging	Het
E330034G19Rik	A	T	14: 24,359,582 (GRCm39)	E331V	unknown	Het
Efs	A	G	14: 55,157,451 (GRCm39)	S287P	probably benign	Het
Fbn1	T	C	2: 125,193,667 (GRCm39)	N1384S	possibly damaging	Het
Flt4	A	G	11: 49,521,155 (GRCm39)	E388G	possibly damaging	Het
Fmn2	T	A	1: 174,331,303 (GRCm39)		probably null	Het
Fmo4	T	C	1: 162,621,672 (GRCm39)	Y513C	probably benign	Het
Gbp4	T	C	5: 105,267,419 (GRCm39)	E500G	probably damaging	Het
Gm29106	T	C	1: 118,126,982 (GRCm39)	S225P	probably damaging	Het
Gstt2	G	A	10: 75,668,354 (GRCm39)	R134W	probably damaging	Het
Gucy1b2	T	C	14: 62,630,401 (GRCm39)	T782A	probably benign	Het
Gzf1	G	T	2: 148,532,002 (GRCm39)	R543L	probably damaging	Het
H2-Eb2	G	A	17: 34,553,321 (GRCm39)	G169E	probably damaging	Het
Hdhd3	T	A	4: 62,418,027 (GRCm39)	R50W	probably damaging	Het
Hdlbp	T	C	1: 93,355,944 (GRCm39)	K407E	probably benign	Het
Isl2	A	G	9: 55,452,240 (GRCm39)	T271A	probably benign	Het
Kbtbd7	GTCTCTC	GTC	14: 79,665,364 (GRCm39)		probably null	Het
Kdm4b	T	A	17: 56,703,319 (GRCm39)	N671K	probably damaging	Het
Lats1	T	A	10: 7,586,655 (GRCm39)	L939H	probably damaging	Het
Map3k1	A	T	13: 111,892,789 (GRCm39)	M822K	probably damaging	Het
Mettl18	C	A	1: 163,824,330 (GRCm39)	T217N	probably damaging	Het
Nav3	A	T	10: 109,532,189 (GRCm39)	Y2083*	probably null	Het
Nckap1l	T	C	15: 103,362,233 (GRCm39)		probably benign	Het
Nkx2-3	A	G	19: 43,600,986 (GRCm39)	D16G	probably damaging	Het
Nlrx1	A	G	9: 44,167,807 (GRCm39)	S697P	probably benign	Het
Or14j4	T	C	17: 37,921,456 (GRCm39)	K62R	possibly damaging	Het
Or1e29	G	C	11: 73,667,652 (GRCm39)	S167C	probably benign	Het
Or4k6	A	T	14: 50,475,825 (GRCm39)	N172K	probably damaging	Het
Or6c75	T	C	10: 129,337,575 (GRCm39)	V266A	probably damaging	Het
Pappa	A	T	4: 65,107,503 (GRCm39)	D638V	probably damaging	Het
Pot1a	T	C	6: 25,771,621 (GRCm39)	D200G	probably benign	Het
Ptprs	G	T	17: 56,726,502 (GRCm39)	T1366K	probably damaging	Het
Sass6	A	T	3: 116,413,813 (GRCm39)	R505S	probably benign	Het
Slc30a6	T	C	17: 74,714,233 (GRCm39)	I84T	probably benign	Het
Sox10	A	T	15: 79,040,339 (GRCm39)	F400L	probably benign	Het
Spata31d1b	A	T	13: 59,864,723 (GRCm39)	I624F	probably damaging	Het
Stpg4	A	G	17: 87,735,006 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,963,309 (GRCm39)	K340N	probably damaging	Het
Tspan12	T	A	6: 21,772,682 (GRCm39)	H289L	probably benign	Het
Ubr1	T	A	2: 120,748,309 (GRCm39)	T809S	probably benign	Het
Vmn1r43	C	T	6: 89,847,172 (GRCm39)	V105M	probably damaging	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Wnt5a	A	G	14: 28,240,236 (GRCm39)		probably null	Het
Wwp2	T	A	8: 108,244,592 (GRCm39)	S255T	probably benign	Het
Zbtb10	A	G	3: 9,316,538 (GRCm39)	T117A	possibly damaging	Het
Zfp800	C	T	6: 28,244,228 (GRCm39)	V246I	probably benign	Het
Zfp955a	G	T	17: 33,463,025 (GRCm39)	Y35*	probably null	Het

Other mutations in Dok5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Dok5	APN	2	170,671,876 (GRCm39)	critical splice donor site	probably null
IGL03224:Dok5	APN	2	170,674,807 (GRCm39)	missense	possibly damaging	0.90
R0413:Dok5	UTSW	2	170,671,880 (GRCm39)	splice site	probably benign
R1522:Dok5	UTSW	2	170,574,052 (GRCm39)	missense	probably benign	0.13
R1748:Dok5	UTSW	2	170,683,373 (GRCm39)	missense	probably damaging	1.00
R2151:Dok5	UTSW	2	170,642,816 (GRCm39)	missense	probably damaging	1.00
R2152:Dok5	UTSW	2	170,642,816 (GRCm39)	missense	probably damaging	1.00
R2154:Dok5	UTSW	2	170,642,816 (GRCm39)	missense	probably damaging	1.00
R4797:Dok5	UTSW	2	170,672,042 (GRCm39)	nonsense	probably null
R6022:Dok5	UTSW	2	170,721,142 (GRCm39)	missense	probably damaging	1.00
R6189:Dok5	UTSW	2	170,642,771 (GRCm39)	missense	probably damaging	0.99
R6403:Dok5	UTSW	2	170,671,820 (GRCm39)	missense	probably damaging	0.98
R7684:Dok5	UTSW	2	170,683,344 (GRCm39)	missense	probably damaging	1.00
R7954:Dok5	UTSW	2	170,674,993 (GRCm39)	critical splice donor site	probably null
R8246:Dok5	UTSW	2	170,642,813 (GRCm39)	missense	probably benign	0.28
R9286:Dok5	UTSW	2	170,672,099 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CCTGGATTGAACTGAGTGGGAG -3'
(R):5'- AGTGAACCCTGCTTACCTTGC -3'

Sequencing Primer
(F):5'- TGGTGTTGCCAACAGGG -3'
(R):5'- TGCTTACCTTGCAGGACG -3'

Posted On

2019-10-07