Mutagenetix > Incidental Mutation

Incidental Mutation 'R9286:Dok5'

703899

Institutional Source

Beutler Lab

Gene Symbol

Dok5

Ensembl Gene

ENSMUSG00000027560

Gene Name

docking protein 5

Synonyms

2700055C10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170573727-170721689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 170672099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 134 (E134K)

Ref Sequence

ENSEMBL: ENSMUSP00000029075 (fasta)

Gene Model

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

AlphaFold

Q91ZM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029075
AA Change: E134K

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029075
Gene: ENSMUSG00000027560
AA Change: E134K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	C	15: 91,058,827 (GRCm39)	P539R	possibly damaging	Het
Adgrl3	A	T	5: 81,794,413 (GRCm39)	D478V	probably benign	Het
Adgrv1	A	T	13: 81,594,520 (GRCm39)	Y4165N	probably damaging	Het
Ago2	A	G	15: 72,997,065 (GRCm39)	L326P	probably damaging	Het
Akap6	A	C	12: 53,119,254 (GRCm39)	K1107T	possibly damaging	Het
Ank2	C	T	3: 126,846,381 (GRCm39)	A205T	probably damaging	Het
Ankrd27	T	C	7: 35,326,869 (GRCm39)	V738A	probably benign	Het
Asb1	A	G	1: 91,480,150 (GRCm39)	K291R	probably benign	Het
Cacna1e	G	T	1: 154,288,845 (GRCm39)	P1847T	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cps1	T	G	1: 67,198,030 (GRCm39)	M365R	probably damaging	Het
Ctc1	T	G	11: 68,917,180 (GRCm39)		probably null	Het
Cyp2b10	G	T	7: 25,616,391 (GRCm39)	G333C	probably damaging	Het
Cyp2d12	A	G	15: 82,443,403 (GRCm39)	E455G	probably damaging	Het
Daam2	A	T	17: 49,786,922 (GRCm39)	D539E	possibly damaging	Het
Dip2a	T	A	10: 76,138,096 (GRCm39)	Y370F	probably benign	Het
Dync2h1	C	T	9: 6,941,668 (GRCm39)	A4164T	probably benign	Het
Ecm2	A	G	13: 49,683,696 (GRCm39)	Y558C		Het
Eif3b	A	G	5: 140,411,064 (GRCm39)	I172V	probably benign	Het
Flnb	T	C	14: 7,873,414 (GRCm38)	F237L	probably damaging	Het
Gdpd4	A	G	7: 97,647,639 (GRCm39)	I429V	probably damaging	Het
Grik1	T	C	16: 87,848,315 (GRCm39)	Y151C		Het
Gys2	C	A	6: 142,376,037 (GRCm39)	V542L	possibly damaging	Het
Hmx1	A	G	5: 35,546,776 (GRCm39)	T106A	probably benign	Het
Il1rap	T	C	16: 26,517,604 (GRCm39)	V268A	possibly damaging	Het
Kansl3	T	C	1: 36,387,720 (GRCm39)	T543A	probably benign	Het
Kcnk1	T	A	8: 126,752,148 (GRCm39)		probably null	Het
Larp7	CCTTCTT	CCTT	3: 127,340,008 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,740,844 (GRCm39)	F449L	probably damaging	Het
Lmod2	A	G	6: 24,603,712 (GRCm39)	E229G	probably damaging	Het
Loxl4	A	T	19: 42,586,047 (GRCm39)	V699E	possibly damaging	Het
Miga2	A	G	2: 30,273,609 (GRCm39)	D489G	probably benign	Het
Nlrp1b	T	A	11: 71,060,573 (GRCm39)	H748L	probably benign	Het
Nudcd2	T	A	11: 40,627,403 (GRCm39)	Y108N	probably damaging	Het
Or10g1	G	A	14: 52,648,075 (GRCm39)	R85*	probably null	Het
Or52b2	A	C	7: 104,985,971 (GRCm39)	C317W	probably damaging	Het
Or5b120	T	A	19: 13,479,791 (GRCm39)	I28N	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,422 (GRCm39)	V404E	probably benign	Het
Pde4dip	T	C	3: 97,607,183 (GRCm39)	D2084G	probably damaging	Het
Phf20	A	T	2: 156,134,470 (GRCm39)	K552M	probably damaging	Het
Plcg2	A	G	8: 118,331,976 (GRCm39)	D854G	probably benign	Het
Psen1	A	G	12: 83,775,549 (GRCm39)	N316D	probably benign	Het
Rabgap1l	G	A	1: 160,051,818 (GRCm39)	Q361*	probably null	Het
Ralb	A	T	1: 119,399,544 (GRCm39)	D171E	probably benign	Het
Rev3l	T	C	10: 39,682,947 (GRCm39)	I355T	possibly damaging	Het
Rttn	A	G	18: 88,995,849 (GRCm39)	K211E	probably benign	Het
Scg2	A	G	1: 79,413,653 (GRCm39)	S357P	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,445,566 (GRCm39)	W456R	probably damaging	Het
Slf1	A	T	13: 77,191,932 (GRCm39)	D967E	probably damaging	Het
Spryd3	A	T	15: 102,041,869 (GRCm39)	V51E	possibly damaging	Het
Tgfbi	A	G	13: 56,773,563 (GRCm39)	H187R	probably damaging	Het
Tmc3	A	G	7: 83,252,643 (GRCm39)	E348G	probably damaging	Het
Tmem45a2	A	G	16: 56,867,332 (GRCm39)	I123T	probably damaging	Het
Tonsl	G	A	15: 76,515,213 (GRCm39)	H1058Y	probably damaging	Het
Trav13d-1	A	G	14: 53,089,050 (GRCm39)	K20E	probably benign	Het
Trpm2	C	A	10: 77,777,014 (GRCm39)	V428L	probably benign	Het
Usp25	A	G	16: 76,904,864 (GRCm39)	Y810C	probably damaging	Het
Vmn1r40	T	A	6: 89,692,079 (GRCm39)	F299I	probably benign	Het
Vmn2r18	A	G	5: 151,499,175 (GRCm39)	F430L	probably benign	Het
Vps13c	G	A	9: 67,880,203 (GRCm39)	V3462I	probably benign	Het
Zfp955b	T	C	17: 33,521,683 (GRCm39)	I384T	probably benign	Het
Zmym4	T	C	4: 126,783,812 (GRCm39)	D1138G	probably damaging	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
R7457:Dok5	UTSW	2	170,712,735 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AATCAGGTTTGTTTGAGGCCAG -3'
(R):5'- ACGTTTGAGGAAAGCATTCAC -3'

Sequencing Primer
(F):5'- TATCATTGAGTACCGGGCATAG -3'
(R):5'- ACTGCGTCATTTACATAGACTGC -3'

Posted On

2022-03-25