Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Dock4'

695937

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

EST N28122, 6330411N01Rik

MMRRC Submission

068944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40445952-40846874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40704338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 442 (I442N)

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: I442N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: I442N

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

possibly damaging
Transcript: ENSMUST00000220912
AA Change: I442N

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,328,157	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,711,484	T847I	possibly damaging	Het
Acox1	A	T	11: 116,198,347	H48Q	probably benign	Het
Adam9	A	G	8: 24,996,779	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,457,055	Y388H	probably damaging	Het
Arap1	A	T	7: 101,391,883	K593*	probably null	Het
Bicc1	G	A	10: 70,945,264	T661M	probably damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Celf1	T	A	2: 91,001,081	L85H	probably damaging	Het
Cep120	A	T	18: 53,719,246	M520K	probably benign	Het
Chd1l	C	T	3: 97,594,040	R230H	probably benign	Het
Cyp2c55	A	T	19: 39,007,127	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,654,782	H167L	unknown	Het
Ddx58	T	A	4: 40,208,827	M762L	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dpp6	T	C	5: 27,451,288		probably null	Het
Dysf	T	C	6: 84,203,326	C1960R	probably damaging	Het
Gm13941	T	C	2: 111,105,979	S2G	unknown	Het
Gm37240	T	C	3: 84,509,941	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,640,457	I350V	unknown	Het
Gtf3c4	A	G	2: 28,834,649	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,753,373	D28G	probably benign	Het
Intu	A	T	3: 40,690,703	D508V	probably damaging	Het
Kif28	A	T	1: 179,705,768	M604K	probably damaging	Het
Klra6	T	A	6: 130,016,724	I195F	possibly damaging	Het
Lhfp	G	A	3: 53,043,466	V54I	probably benign	Het
Lrpap1	T	C	5: 35,105,579	Y38C	probably damaging	Het
Maats1	A	G	16: 38,335,598	Y88H	possibly damaging	Het
Map1b	T	A	13: 99,425,843	Q2453L	unknown	Het
Map1b	C	A	13: 99,432,308	E1302*	probably null	Het
Map7	C	T	10: 20,246,664	R159C	probably benign	Het
Mov10l1	C	T	15: 89,012,158	T735I	probably benign	Het
Nfasc	C	A	1: 132,634,806	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,889,969	V230A	probably benign	Het
Olfr1206	C	T	2: 88,865,451	P282L	possibly damaging	Het
Olfr857	T	A	9: 19,713,658	M277K	probably benign	Het
Olfr860	T	A	9: 19,846,208	N137I	possibly damaging	Het
Orm3	T	C	4: 63,356,572	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,498,799	V549E	probably damaging	Het
Pclo	T	A	5: 14,681,685	S274R		Het
Phactr1	A	G	13: 42,682,702	D2G	possibly damaging	Het
Phtf2	G	A	5: 20,803,192	R164*	probably null	Het
Prkcq	A	G	2: 11,226,905	D13G	probably damaging	Het
Proser1	A	T	3: 53,472,073	N156I	probably benign	Het
Prss51	T	C	14: 64,097,509	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,752,991	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,166,773	D681G	possibly damaging	Het
Slc7a12	A	T	3: 14,499,300	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,077,968	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,222,075	A11E	probably benign	Het
Spag1	A	T	15: 36,216,253	Y526F	probably damaging	Het
Stim1	A	G	7: 102,435,419	H526R	probably benign	Het
Stx1b	T	C	7: 127,814,987	K69R	probably benign	Het
Tal1	T	C	4: 115,063,449	S107P	probably benign	Het
Tas2r130	T	C	6: 131,630,012	I273M	probably damaging	Het
Ttc24	A	T	3: 88,072,988	Y135*	probably null	Het
Ttn	G	A	2: 76,753,512	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,216,221	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,385,800	*850C	probably null	Het
Vwf	T	A	6: 125,565,843	I94N		Het
Zan	A	T	5: 137,424,071	S2762T	unknown	Het
Zbtb20	A	G	16: 43,610,401	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,423,469	Y1649H	probably benign	Het
Zfp397	A	T	18: 23,956,771	Q111L	probably damaging	Het
Zfp616	T	A	11: 74,084,999	I698N	probably damaging	Het

Other mutations in Dock4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dock4	APN	12	40832306	missense	possibly damaging	0.48
IGL00726:Dock4	APN	12	40790068	splice site	probably benign
IGL00790:Dock4	APN	12	40834391	missense	probably damaging	1.00
IGL01061:Dock4	APN	12	40702969	missense	probably benign	0.01
IGL01083:Dock4	APN	12	40788381	splice site	probably benign
IGL01412:Dock4	APN	12	40730041	splice site	probably benign
IGL01583:Dock4	APN	12	40810467	nonsense	probably null
IGL01603:Dock4	APN	12	40693031	missense	probably damaging	1.00
IGL01766:Dock4	APN	12	40446379	nonsense	probably null
IGL02067:Dock4	APN	12	40834385	missense	probably damaging	1.00
IGL02302:Dock4	APN	12	40725777	missense	probably damaging	1.00
IGL02406:Dock4	APN	12	40777207	missense	probably benign	0.01
IGL02547:Dock4	APN	12	40737479	missense	probably benign
IGL02613:Dock4	APN	12	40810466	missense	probably damaging	1.00
IGL02643:Dock4	APN	12	40668430	missense	probably damaging	1.00
IGL02952:Dock4	APN	12	40710903	critical splice donor site	probably null
IGL02994:Dock4	APN	12	40779160	missense	probably damaging	0.99
IGL03096:Dock4	APN	12	40748001	missense	probably benign	0.00
IGL03144:Dock4	APN	12	40692907	splice site	probably benign
IGL03223:Dock4	APN	12	40817594	missense	probably damaging	1.00
IGL03296:Dock4	APN	12	40733257	missense	possibly damaging	0.84
IGL03349:Dock4	APN	12	40733310	missense	probably benign	0.42
IGL03353:Dock4	APN	12	40817758	splice site	probably null
BB005:Dock4	UTSW	12	40788303	missense	probably damaging	0.98
BB015:Dock4	UTSW	12	40788303	missense	probably damaging	0.98
R0046:Dock4	UTSW	12	40737360	splice site	probably benign
R0046:Dock4	UTSW	12	40737360	splice site	probably benign
R0110:Dock4	UTSW	12	40621312	splice site	probably benign
R0238:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0238:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0472:Dock4	UTSW	12	40838438	intron	probably benign
R0616:Dock4	UTSW	12	40704415	missense	probably benign	0.31
R0647:Dock4	UTSW	12	40710884	missense	probably damaging	1.00
R0706:Dock4	UTSW	12	40702923	missense	probably damaging	0.98
R0791:Dock4	UTSW	12	40704481	missense	probably damaging	1.00
R0940:Dock4	UTSW	12	40631627	splice site	probably benign
R1087:Dock4	UTSW	12	40729938	missense	probably benign	0.40
R1180:Dock4	UTSW	12	40640414	missense	possibly damaging	0.52
R1194:Dock4	UTSW	12	40829616	missense	probably damaging	1.00
R1463:Dock4	UTSW	12	40816325	frame shift	probably null
R1468:Dock4	UTSW	12	40755810	missense	probably benign	0.00
R1468:Dock4	UTSW	12	40755810	missense	probably benign	0.00
R1523:Dock4	UTSW	12	40693025	missense	possibly damaging	0.88
R1616:Dock4	UTSW	12	40669045	missense	probably damaging	0.99
R1682:Dock4	UTSW	12	40725780	missense	probably damaging	1.00
R1691:Dock4	UTSW	12	40725755	missense	probably benign	0.26
R1693:Dock4	UTSW	12	40834722	missense	probably benign	0.07
R1737:Dock4	UTSW	12	40807001	splice site	probably null
R1802:Dock4	UTSW	12	40794598	missense	possibly damaging	0.90
R1813:Dock4	UTSW	12	40636228	missense	probably damaging	1.00
R1846:Dock4	UTSW	12	40733268	missense	probably benign	0.00
R1959:Dock4	UTSW	12	40710798	missense	probably damaging	1.00
R1975:Dock4	UTSW	12	40779642	splice site	probably benign
R1986:Dock4	UTSW	12	40730063	missense	probably damaging	1.00
R2105:Dock4	UTSW	12	40692989	missense	probably benign	0.00
R2134:Dock4	UTSW	12	40745668	missense	probably benign
R2135:Dock4	UTSW	12	40745668	missense	probably benign
R2154:Dock4	UTSW	12	40820662	missense	probably damaging	1.00
R2154:Dock4	UTSW	12	40844548	small insertion	probably benign
R2864:Dock4	UTSW	12	40730073	missense	probably damaging	1.00
R2890:Dock4	UTSW	12	40623801	critical splice acceptor site	probably null
R3086:Dock4	UTSW	12	40731863	missense	probably benign	0.02
R3808:Dock4	UTSW	12	40672810	missense	probably damaging	0.99
R3811:Dock4	UTSW	12	40779124	missense	possibly damaging	0.87
R3836:Dock4	UTSW	12	40794624	critical splice donor site	probably null
R3838:Dock4	UTSW	12	40794624	critical splice donor site	probably null
R4091:Dock4	UTSW	12	40844267	missense	probably damaging	0.99
R4735:Dock4	UTSW	12	40631526	missense	probably benign	0.31
R4752:Dock4	UTSW	12	40446365	missense	probably benign	0.04
R4828:Dock4	UTSW	12	40668437	missense	probably damaging	1.00
R5039:Dock4	UTSW	12	40817746	missense	probably damaging	1.00
R5092:Dock4	UTSW	12	40844441	missense	probably benign
R5146:Dock4	UTSW	12	40649492	splice site	probably null
R5213:Dock4	UTSW	12	40676742	missense	probably damaging	1.00
R5214:Dock4	UTSW	12	40704466	missense	probably benign	0.00
R5270:Dock4	UTSW	12	40733271	missense	probably benign	0.02
R5426:Dock4	UTSW	12	40745745	missense	probably damaging	1.00
R5474:Dock4	UTSW	12	40745731	missense	probably benign
R5544:Dock4	UTSW	12	40834702	missense	possibly damaging	0.87
R5615:Dock4	UTSW	12	40649480	missense	probably benign	0.22
R5649:Dock4	UTSW	12	40844540	missense	probably benign	0.03
R5702:Dock4	UTSW	12	40737491	missense	probably benign	0.02
R5846:Dock4	UTSW	12	40817736	missense	probably damaging	1.00
R5847:Dock4	UTSW	12	40621251	missense	probably damaging	0.97
R5895:Dock4	UTSW	12	40755813	missense	probably damaging	1.00
R5997:Dock4	UTSW	12	40755834	missense	probably damaging	0.99
R6011:Dock4	UTSW	12	40817757	critical splice donor site	probably null
R6022:Dock4	UTSW	12	40748110	missense	probably benign	0.04
R6038:Dock4	UTSW	12	40733351	splice site	probably null
R6038:Dock4	UTSW	12	40733351	splice site	probably null
R6179:Dock4	UTSW	12	40731869	missense	probably benign	0.00
R6479:Dock4	UTSW	12	40828955	missense	probably damaging	1.00
R6516:Dock4	UTSW	12	40731899	missense	possibly damaging	0.94
R6748:Dock4	UTSW	12	40704466	missense	probably benign	0.44
R6752:Dock4	UTSW	12	40820617	missense	probably damaging	1.00
R6814:Dock4	UTSW	12	40812326	critical splice donor site	probably null
R6864:Dock4	UTSW	12	40745746	missense	probably damaging	1.00
R6872:Dock4	UTSW	12	40812326	critical splice donor site	probably null
R6891:Dock4	UTSW	12	40779136	missense	probably damaging	1.00
R6937:Dock4	UTSW	12	40834635	missense	probably benign	0.01
R6950:Dock4	UTSW	12	40733314	missense	possibly damaging	0.80
R7081:Dock4	UTSW	12	40621286	missense	probably damaging	1.00
R7129:Dock4	UTSW	12	40828879	missense	probably damaging	1.00
R7140:Dock4	UTSW	12	40636159	missense	probably benign	0.06
R7241:Dock4	UTSW	12	40794860	missense	probably damaging	1.00
R7378:Dock4	UTSW	12	40788244	missense	possibly damaging	0.94
R7714:Dock4	UTSW	12	40725649	nonsense	probably null
R7720:Dock4	UTSW	12	40806975	missense	probably damaging	0.99
R7756:Dock4	UTSW	12	40710879	missense	probably benign	0.02
R7758:Dock4	UTSW	12	40710879	missense	probably benign	0.02
R7759:Dock4	UTSW	12	40817736	missense	probably damaging	1.00
R7787:Dock4	UTSW	12	40725677	missense	probably benign
R7879:Dock4	UTSW	12	40730084	missense	possibly damaging	0.76
R7928:Dock4	UTSW	12	40788303	missense	probably damaging	0.98
R8000:Dock4	UTSW	12	40833119	missense	probably benign	0.05
R8042:Dock4	UTSW	12	40745760	missense	probably benign	0.01
R8231:Dock4	UTSW	12	40702951	missense	possibly damaging	0.88
R8234:Dock4	UTSW	12	40834838	splice site	probably null
R8758:Dock4	UTSW	12	40788232	missense	probably benign	0.12
R8871:Dock4	UTSW	12	40745731	missense	probably benign
R8873:Dock4	UTSW	12	40676768	nonsense	probably null
R8884:Dock4	UTSW	12	40806885	missense	probably damaging	1.00
R9225:Dock4	UTSW	12	40829670	missense	probably benign	0.02
R9276:Dock4	UTSW	12	40649405	missense	possibly damaging	0.48
R9307:Dock4	UTSW	12	40636156	missense	probably damaging	1.00
R9675:Dock4	UTSW	12	40844380	small insertion	probably benign
R9675:Dock4	UTSW	12	40844394	small insertion	probably benign
R9676:Dock4	UTSW	12	40844380	small insertion	probably benign
R9676:Dock4	UTSW	12	40844388	small insertion	probably benign
R9676:Dock4	UTSW	12	40844398	small insertion	probably benign
R9676:Dock4	UTSW	12	40844402	small insertion	probably benign
R9678:Dock4	UTSW	12	40844380	small insertion	probably benign
R9678:Dock4	UTSW	12	40844388	small insertion	probably benign
R9678:Dock4	UTSW	12	40844397	small insertion	probably benign
R9691:Dock4	UTSW	12	40636098	missense	probably damaging	1.00
RF018:Dock4	UTSW	12	40844399	frame shift	probably null
RF025:Dock4	UTSW	12	40844393	frame shift	probably null
RF063:Dock4	UTSW	12	40844399	frame shift	probably null
X0028:Dock4	UTSW	12	40669047	missense	probably benign	0.25
Z1176:Dock4	UTSW	12	40631614	missense	probably benign	0.01
Z1176:Dock4	UTSW	12	40631616	missense	probably benign	0.16
Z1177:Dock4	UTSW	12	40817641	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ATGGAAGAGCCTCCTGAGTG -3'
(R):5'- GCCCACAGTAAGTACAGGAC -3'

Sequencing Primer
(F):5'- GGAGTTGAATTCTTACATCACATCCC -3'
(R):5'- GTAAGTACAGGACTCACCCCAAG -3'

Posted On

2022-02-07