Mutagenetix > Incidental Mutation

Incidental Mutation 'BB015:Dock4'

642865

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

EST N28122, 6330411N01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

BB015

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40445952-40846874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40788303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1081 (L1081P)

Ref Sequence

ENSEMBL: ENSMUSP00000047387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037488] [ENSMUST00000220912]

AlphaFold

P59764

Predicted Effect

probably damaging
Transcript: ENSMUST00000037488
AA Change: L1081P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: L1081P

Domain	Start	End	E-Value	Type
SH3	9	66	7.29e-10	SMART
Pfam:DOCK_N	69	392	8.2e-110	PFAM
Pfam:DOCK-C2	397	583	1.9e-55	PFAM
low complexity region	829	842	N/A	INTRINSIC
Pfam:DHR-2	1092	1596	5e-108	PFAM
low complexity region	1651	1664	N/A	INTRINSIC
low complexity region	1681	1696	N/A	INTRINSIC
low complexity region	1700	1713	N/A	INTRINSIC
low complexity region	1842	1872	N/A	INTRINSIC
low complexity region	1883	1896	N/A	INTRINSIC
low complexity region	1940	1950	N/A	INTRINSIC
low complexity region	1958	1973	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000220912
AA Change: L1081P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.8031

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	A	15: 74,538,321 (GRCm38)	W270R	probably damaging	Het
Adprhl1	C	T	8: 13,248,682 (GRCm38)	V83I	probably damaging	Het
App	A	T	16: 84,978,246 (GRCm38)	V501D	probably benign	Het
Cnot6l	A	G	5: 96,131,068 (GRCm38)	V97A	possibly damaging	Het
Cntrob	A	G	11: 69,300,295 (GRCm38)	L831P	probably damaging	Het
Dmbt1	T	C	7: 131,037,890 (GRCm38)	S53P	probably benign	Het
Dnah2	T	C	11: 69,430,835 (GRCm38)	D3833G	probably damaging	Het
Dock7	T	C	4: 99,001,098 (GRCm38)	N185D		Het
Dsn1	T	C	2: 157,006,012 (GRCm38)		probably benign	Het
Evpl	T	C	11: 116,222,533 (GRCm38)	T1444A	possibly damaging	Het
Fanci	T	C	7: 79,444,711 (GRCm38)	L1130P	probably benign	Het
Fancm	A	G	12: 65,106,124 (GRCm38)	D1118G	unknown	Het
G530012D18Rik	C	G	1: 85,577,214 (GRCm38)	D113E	unknown	Het
Gm11596	A	G	11: 99,792,796 (GRCm38)	V166A	unknown	Het
Gm2696	A	T	10: 77,814,889 (GRCm38)	T70S	unknown	Het
Gm5773	A	G	3: 93,773,690 (GRCm38)	E223G	probably damaging	Het
Madd	T	A	2: 91,176,888 (GRCm38)	D293V	probably damaging	Het
Odam	A	G	5: 87,887,410 (GRCm38)	T78A	possibly damaging	Het
Olfr629	T	A	7: 103,741,190 (GRCm38)	I17F	probably damaging	Het
Rassf3	A	G	10: 121,417,079 (GRCm38)		probably null	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Rhbdf1	T	C	11: 32,209,898 (GRCm38)	Y826C	possibly damaging	Het
Rnf13	C	A	3: 57,764,308 (GRCm38)	Q14K	probably benign	Het
Sec13	A	G	6: 113,729,640 (GRCm38)	S271P	probably damaging	Het
Sema6c	T	C	3: 95,172,309 (GRCm38)	L638P	probably damaging	Het
Sgsh	T	G	11: 119,347,735 (GRCm38)	H301P	probably benign	Het
Shh	T	C	5: 28,461,406 (GRCm38)	M161V	possibly damaging	Het
Stil	C	T	4: 115,030,001 (GRCm38)	H764Y	probably damaging	Het
Vmn1r203	C	T	13: 22,524,535 (GRCm38)	T162I	probably benign	Het
Zzef1	T	C	11: 72,821,896 (GRCm38)	M214T	probably damaging	Het

Other mutations in Dock4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dock4	APN	12	40,832,306 (GRCm38)	missense	possibly damaging	0.48
IGL00726:Dock4	APN	12	40,790,068 (GRCm38)	splice site	probably benign
IGL00790:Dock4	APN	12	40,834,391 (GRCm38)	missense	probably damaging	1.00
IGL01061:Dock4	APN	12	40,702,969 (GRCm38)	missense	probably benign	0.01
IGL01083:Dock4	APN	12	40,788,381 (GRCm38)	splice site	probably benign
IGL01412:Dock4	APN	12	40,730,041 (GRCm38)	splice site	probably benign
IGL01583:Dock4	APN	12	40,810,467 (GRCm38)	nonsense	probably null
IGL01603:Dock4	APN	12	40,693,031 (GRCm38)	missense	probably damaging	1.00
IGL01766:Dock4	APN	12	40,446,379 (GRCm38)	nonsense	probably null
IGL02067:Dock4	APN	12	40,834,385 (GRCm38)	missense	probably damaging	1.00
IGL02302:Dock4	APN	12	40,725,777 (GRCm38)	missense	probably damaging	1.00
IGL02406:Dock4	APN	12	40,777,207 (GRCm38)	missense	probably benign	0.01
IGL02547:Dock4	APN	12	40,737,479 (GRCm38)	missense	probably benign
IGL02613:Dock4	APN	12	40,810,466 (GRCm38)	missense	probably damaging	1.00
IGL02643:Dock4	APN	12	40,668,430 (GRCm38)	missense	probably damaging	1.00
IGL02952:Dock4	APN	12	40,710,903 (GRCm38)	critical splice donor site	probably null
IGL02994:Dock4	APN	12	40,779,160 (GRCm38)	missense	probably damaging	0.99
IGL03096:Dock4	APN	12	40,748,001 (GRCm38)	missense	probably benign	0.00
IGL03144:Dock4	APN	12	40,692,907 (GRCm38)	splice site	probably benign
IGL03223:Dock4	APN	12	40,817,594 (GRCm38)	missense	probably damaging	1.00
IGL03296:Dock4	APN	12	40,733,257 (GRCm38)	missense	possibly damaging	0.84
IGL03349:Dock4	APN	12	40,733,310 (GRCm38)	missense	probably benign	0.42
IGL03353:Dock4	APN	12	40,817,758 (GRCm38)	splice site	probably null
BB005:Dock4	UTSW	12	40,788,303 (GRCm38)	missense	probably damaging	0.98
R0046:Dock4	UTSW	12	40,737,360 (GRCm38)	splice site	probably benign
R0046:Dock4	UTSW	12	40,737,360 (GRCm38)	splice site	probably benign
R0110:Dock4	UTSW	12	40,621,312 (GRCm38)	splice site	probably benign
R0238:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0238:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0472:Dock4	UTSW	12	40,838,438 (GRCm38)	intron	probably benign
R0616:Dock4	UTSW	12	40,704,415 (GRCm38)	missense	probably benign	0.31
R0647:Dock4	UTSW	12	40,710,884 (GRCm38)	missense	probably damaging	1.00
R0706:Dock4	UTSW	12	40,702,923 (GRCm38)	missense	probably damaging	0.98
R0791:Dock4	UTSW	12	40,704,481 (GRCm38)	missense	probably damaging	1.00
R0940:Dock4	UTSW	12	40,631,627 (GRCm38)	splice site	probably benign
R1087:Dock4	UTSW	12	40,729,938 (GRCm38)	missense	probably benign	0.40
R1180:Dock4	UTSW	12	40,640,414 (GRCm38)	missense	possibly damaging	0.52
R1194:Dock4	UTSW	12	40,829,616 (GRCm38)	missense	probably damaging	1.00
R1463:Dock4	UTSW	12	40,816,325 (GRCm38)	frame shift	probably null
R1468:Dock4	UTSW	12	40,755,810 (GRCm38)	missense	probably benign	0.00
R1468:Dock4	UTSW	12	40,755,810 (GRCm38)	missense	probably benign	0.00
R1523:Dock4	UTSW	12	40,693,025 (GRCm38)	missense	possibly damaging	0.88
R1616:Dock4	UTSW	12	40,669,045 (GRCm38)	missense	probably damaging	0.99
R1682:Dock4	UTSW	12	40,725,780 (GRCm38)	missense	probably damaging	1.00
R1691:Dock4	UTSW	12	40,725,755 (GRCm38)	missense	probably benign	0.26
R1693:Dock4	UTSW	12	40,834,722 (GRCm38)	missense	probably benign	0.07
R1737:Dock4	UTSW	12	40,807,001 (GRCm38)	splice site	probably null
R1802:Dock4	UTSW	12	40,794,598 (GRCm38)	missense	possibly damaging	0.90
R1813:Dock4	UTSW	12	40,636,228 (GRCm38)	missense	probably damaging	1.00
R1846:Dock4	UTSW	12	40,733,268 (GRCm38)	missense	probably benign	0.00
R1959:Dock4	UTSW	12	40,710,798 (GRCm38)	missense	probably damaging	1.00
R1975:Dock4	UTSW	12	40,779,642 (GRCm38)	splice site	probably benign
R1986:Dock4	UTSW	12	40,730,063 (GRCm38)	missense	probably damaging	1.00
R2105:Dock4	UTSW	12	40,692,989 (GRCm38)	missense	probably benign	0.00
R2134:Dock4	UTSW	12	40,745,668 (GRCm38)	missense	probably benign
R2135:Dock4	UTSW	12	40,745,668 (GRCm38)	missense	probably benign
R2154:Dock4	UTSW	12	40,844,548 (GRCm38)	small insertion	probably benign
R2154:Dock4	UTSW	12	40,820,662 (GRCm38)	missense	probably damaging	1.00
R2864:Dock4	UTSW	12	40,730,073 (GRCm38)	missense	probably damaging	1.00
R2890:Dock4	UTSW	12	40,623,801 (GRCm38)	critical splice acceptor site	probably null
R3086:Dock4	UTSW	12	40,731,863 (GRCm38)	missense	probably benign	0.02
R3808:Dock4	UTSW	12	40,672,810 (GRCm38)	missense	probably damaging	0.99
R3811:Dock4	UTSW	12	40,779,124 (GRCm38)	missense	possibly damaging	0.87
R3836:Dock4	UTSW	12	40,794,624 (GRCm38)	critical splice donor site	probably null
R3838:Dock4	UTSW	12	40,794,624 (GRCm38)	critical splice donor site	probably null
R4091:Dock4	UTSW	12	40,844,267 (GRCm38)	missense	probably damaging	0.99
R4735:Dock4	UTSW	12	40,631,526 (GRCm38)	missense	probably benign	0.31
R4752:Dock4	UTSW	12	40,446,365 (GRCm38)	missense	probably benign	0.04
R4828:Dock4	UTSW	12	40,668,437 (GRCm38)	missense	probably damaging	1.00
R5039:Dock4	UTSW	12	40,817,746 (GRCm38)	missense	probably damaging	1.00
R5092:Dock4	UTSW	12	40,844,441 (GRCm38)	missense	probably benign
R5146:Dock4	UTSW	12	40,649,492 (GRCm38)	splice site	probably null
R5213:Dock4	UTSW	12	40,676,742 (GRCm38)	missense	probably damaging	1.00
R5214:Dock4	UTSW	12	40,704,466 (GRCm38)	missense	probably benign	0.00
R5270:Dock4	UTSW	12	40,733,271 (GRCm38)	missense	probably benign	0.02
R5426:Dock4	UTSW	12	40,745,745 (GRCm38)	missense	probably damaging	1.00
R5474:Dock4	UTSW	12	40,745,731 (GRCm38)	missense	probably benign
R5544:Dock4	UTSW	12	40,834,702 (GRCm38)	missense	possibly damaging	0.87
R5615:Dock4	UTSW	12	40,649,480 (GRCm38)	missense	probably benign	0.22
R5649:Dock4	UTSW	12	40,844,540 (GRCm38)	missense	probably benign	0.03
R5702:Dock4	UTSW	12	40,737,491 (GRCm38)	missense	probably benign	0.02
R5846:Dock4	UTSW	12	40,817,736 (GRCm38)	missense	probably damaging	1.00
R5847:Dock4	UTSW	12	40,621,251 (GRCm38)	missense	probably damaging	0.97
R5895:Dock4	UTSW	12	40,755,813 (GRCm38)	missense	probably damaging	1.00
R5997:Dock4	UTSW	12	40,755,834 (GRCm38)	missense	probably damaging	0.99
R6011:Dock4	UTSW	12	40,817,757 (GRCm38)	critical splice donor site	probably null
R6022:Dock4	UTSW	12	40,748,110 (GRCm38)	missense	probably benign	0.04
R6038:Dock4	UTSW	12	40,733,351 (GRCm38)	splice site	probably null
R6038:Dock4	UTSW	12	40,733,351 (GRCm38)	splice site	probably null
R6179:Dock4	UTSW	12	40,731,869 (GRCm38)	missense	probably benign	0.00
R6479:Dock4	UTSW	12	40,828,955 (GRCm38)	missense	probably damaging	1.00
R6516:Dock4	UTSW	12	40,731,899 (GRCm38)	missense	possibly damaging	0.94
R6748:Dock4	UTSW	12	40,704,466 (GRCm38)	missense	probably benign	0.44
R6752:Dock4	UTSW	12	40,820,617 (GRCm38)	missense	probably damaging	1.00
R6814:Dock4	UTSW	12	40,812,326 (GRCm38)	critical splice donor site	probably null
R6864:Dock4	UTSW	12	40,745,746 (GRCm38)	missense	probably damaging	1.00
R6872:Dock4	UTSW	12	40,812,326 (GRCm38)	critical splice donor site	probably null
R6891:Dock4	UTSW	12	40,779,136 (GRCm38)	missense	probably damaging	1.00
R6937:Dock4	UTSW	12	40,834,635 (GRCm38)	missense	probably benign	0.01
R6950:Dock4	UTSW	12	40,733,314 (GRCm38)	missense	possibly damaging	0.80
R7081:Dock4	UTSW	12	40,621,286 (GRCm38)	missense	probably damaging	1.00
R7129:Dock4	UTSW	12	40,828,879 (GRCm38)	missense	probably damaging	1.00
R7140:Dock4	UTSW	12	40,636,159 (GRCm38)	missense	probably benign	0.06
R7241:Dock4	UTSW	12	40,794,860 (GRCm38)	missense	probably damaging	1.00
R7378:Dock4	UTSW	12	40,788,244 (GRCm38)	missense	possibly damaging	0.94
R7714:Dock4	UTSW	12	40,725,649 (GRCm38)	nonsense	probably null
R7720:Dock4	UTSW	12	40,806,975 (GRCm38)	missense	probably damaging	0.99
R7756:Dock4	UTSW	12	40,710,879 (GRCm38)	missense	probably benign	0.02
R7758:Dock4	UTSW	12	40,710,879 (GRCm38)	missense	probably benign	0.02
R7759:Dock4	UTSW	12	40,817,736 (GRCm38)	missense	probably damaging	1.00
R7787:Dock4	UTSW	12	40,725,677 (GRCm38)	missense	probably benign
R7879:Dock4	UTSW	12	40,730,084 (GRCm38)	missense	possibly damaging	0.76
R7928:Dock4	UTSW	12	40,788,303 (GRCm38)	missense	probably damaging	0.98
R8000:Dock4	UTSW	12	40,833,119 (GRCm38)	missense	probably benign	0.05
R8042:Dock4	UTSW	12	40,745,760 (GRCm38)	missense	probably benign	0.01
R8231:Dock4	UTSW	12	40,702,951 (GRCm38)	missense	possibly damaging	0.88
R8234:Dock4	UTSW	12	40,834,838 (GRCm38)	splice site	probably null
R8758:Dock4	UTSW	12	40,788,232 (GRCm38)	missense	probably benign	0.12
R8871:Dock4	UTSW	12	40,745,731 (GRCm38)	missense	probably benign
R8873:Dock4	UTSW	12	40,676,768 (GRCm38)	nonsense	probably null
R8884:Dock4	UTSW	12	40,806,885 (GRCm38)	missense	probably damaging	1.00
R9164:Dock4	UTSW	12	40,704,338 (GRCm38)	missense	probably damaging	1.00
R9225:Dock4	UTSW	12	40,829,670 (GRCm38)	missense	probably benign	0.02
R9276:Dock4	UTSW	12	40,649,405 (GRCm38)	missense	possibly damaging	0.48
R9307:Dock4	UTSW	12	40,636,156 (GRCm38)	missense	probably damaging	1.00
R9675:Dock4	UTSW	12	40,844,394 (GRCm38)	small insertion	probably benign
R9675:Dock4	UTSW	12	40,844,380 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,398 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,388 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,380 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,402 (GRCm38)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,844,397 (GRCm38)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,844,388 (GRCm38)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,844,380 (GRCm38)	small insertion	probably benign
R9691:Dock4	UTSW	12	40,636,098 (GRCm38)	missense	probably damaging	1.00
RF018:Dock4	UTSW	12	40,844,399 (GRCm38)	frame shift	probably null
RF025:Dock4	UTSW	12	40,844,393 (GRCm38)	frame shift	probably null
RF063:Dock4	UTSW	12	40,844,399 (GRCm38)	frame shift	probably null
X0028:Dock4	UTSW	12	40,669,047 (GRCm38)	missense	probably benign	0.25
Z1176:Dock4	UTSW	12	40,631,616 (GRCm38)	missense	probably benign	0.16
Z1176:Dock4	UTSW	12	40,631,614 (GRCm38)	missense	probably benign	0.01
Z1177:Dock4	UTSW	12	40,817,641 (GRCm38)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CTTTTCTTATCTGGGGCGATAACTG -3'
(R):5'- TGGTTCTGGGGCCATTGAAC -3'

Sequencing Primer
(F):5'- ATCTGGGGCGATAACTGTAGTTC -3'
(R):5'- AACCAGTGTTCATTTCTCCACAGAG -3'

Posted On

2020-08-01