Mutagenetix > Incidental Mutation

Incidental Mutation 'R7954:Dok5'

649705

Institutional Source

Beutler Lab

Gene Symbol

Dok5

Ensembl Gene

ENSMUSG00000027560

Gene Name

docking protein 5

Synonyms

2700055C10Rik

MMRRC Submission

045998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170573727-170721689 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 170674993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029075 (fasta)

Gene Model

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

AlphaFold

Q91ZM9

Predicted Effect

probably null
Transcript: ENSMUST00000029075

SMART Domains

Protein: ENSMUSP00000029075
Gene: ENSMUSG00000027560

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,903,169 (GRCm39)	C409Y	possibly damaging	Het
Acsm2	C	T	7: 119,179,952 (GRCm39)	T390I	probably damaging	Het
Adam20	T	C	8: 41,249,581 (GRCm39)	Y564H	probably damaging	Het
Adcy6	A	G	15: 98,494,773 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,598,144 (GRCm39)	V990A	probably damaging	Het
Anapc2	T	A	2: 25,164,712 (GRCm39)	V318E	probably damaging	Het
Ano6	G	T	15: 95,863,702 (GRCm39)	A741S	possibly damaging	Het
Apc	A	G	18: 34,447,321 (GRCm39)	S1406G	probably damaging	Het
Cemip2	T	A	19: 21,770,264 (GRCm39)	I84N	probably damaging	Het
Cfi	G	A	3: 129,662,234 (GRCm39)		probably null	Het
Clcn1	A	T	6: 42,263,625 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Dnmbp	A	T	19: 43,890,742 (GRCm39)	W342R	probably benign	Het
Eno3	T	C	11: 70,552,006 (GRCm39)	I284T	probably benign	Het
Ep400	T	C	5: 110,816,599 (GRCm39)	T2767A	possibly damaging	Het
Epb41l4b	A	G	4: 57,088,034 (GRCm39)	V162A	probably damaging	Het
Fat3	A	G	9: 15,909,708 (GRCm39)	I2098T	probably damaging	Het
Fbxl13	T	C	5: 21,748,767 (GRCm39)	N384S	probably benign	Het
Fbxo9	A	G	9: 78,008,826 (GRCm39)	L78P	probably benign	Het
Glis1	G	A	4: 107,476,854 (GRCm39)	R525H	possibly damaging	Het
Gpr15	T	G	16: 58,539,047 (GRCm39)	D14A	probably benign	Het
Gpr156	T	C	16: 37,807,920 (GRCm39)	I189T	probably damaging	Het
H6pd	T	C	4: 150,067,283 (GRCm39)	I376V	probably benign	Het
Hs6st3	T	C	14: 120,106,522 (GRCm39)	V310A	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kif26b	A	T	1: 178,696,944 (GRCm39)	I531F	probably damaging	Het
Krtcap3	T	C	5: 31,410,015 (GRCm39)	L166P	probably damaging	Het
Lmod1	A	C	1: 135,252,794 (GRCm39)	D16A	probably damaging	Het
Lrp2	T	G	2: 69,333,867 (GRCm39)	N1458T	possibly damaging	Het
Mocs1	G	A	17: 49,761,799 (GRCm39)	G631E	possibly damaging	Het
Nop14	G	A	5: 34,807,729 (GRCm39)	P411L	probably benign	Het
Nr2f1	A	C	13: 78,338,113 (GRCm39)	D334E	probably damaging	Het
Or5al7	A	G	2: 85,993,212 (GRCm39)	L27P	probably damaging	Het
Or5p51	T	C	7: 107,444,119 (GRCm39)	N274D	probably benign	Het
Paqr9	G	A	9: 95,442,681 (GRCm39)	V224M	probably damaging	Het
Pkd2l1	T	C	19: 44,142,651 (GRCm39)	T464A	probably benign	Het
Prss58	T	C	6: 40,872,543 (GRCm39)	R188G	possibly damaging	Het
Rapgef2	G	A	3: 78,977,454 (GRCm39)	R1150*	probably null	Het
Rgs22	A	C	15: 36,082,148 (GRCm39)	F653V	possibly damaging	Het
Spata2	T	C	2: 167,325,857 (GRCm39)	T321A	probably benign	Het
St3gal1	A	T	15: 66,984,422 (GRCm39)	F118I	probably damaging	Het
Styxl2	C	T	1: 165,926,849 (GRCm39)	S921N	probably benign	Het
Tasor	T	C	14: 27,169,481 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tll1	G	A	8: 64,571,568 (GRCm39)	T171I	probably damaging	Het
Umodl1	A	T	17: 31,205,361 (GRCm39)	Q652L	probably benign	Het
Usp54	A	G	14: 20,611,981 (GRCm39)	L945P	probably benign	Het
Vars1	A	G	17: 35,234,960 (GRCm39)	H1263R	probably benign	Het
Vmn1r202	A	T	13: 22,685,871 (GRCm39)	M182K	probably benign	Het
Vmn1r78	T	A	7: 11,887,227 (GRCm39)	C279*	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
R7457:Dok5	UTSW	2	170,712,735 (GRCm39)	missense	probably benign
R7684:Dok5	UTSW	2	170,683,344 (GRCm39)	missense	probably damaging	1.00
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'- TGCCATCTCCTAACTTAGATGTAC -3'
(R):5'- CAGCTCAGCCTCAGTTTGTG -3'

Sequencing Primer
(F):5'- CTCCTAACTTAGATGTACATGGCG -3'
(R):5'- TTGAAGAGTTAGAACCCTCCCTAGG -3'

Posted On

2020-09-15