Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02955:Dok4'

365063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dok4

Ensembl Gene

ENSMUSG00000040631

Gene Name

docking protein 4

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

IGL02955

Quality Score

Status

Chromosome

Chromosomal Location

95590456-95602940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95592256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 244 (N244S)

Ref Sequence

ENSEMBL: ENSMUSP00000148355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046461] [ENSMUST00000109521] [ENSMUST00000211892] [ENSMUST00000211939] [ENSMUST00000212810]

AlphaFold

Q99KE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046461
AA Change: N244S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043554
Gene: ENSMUSG00000040631
AA Change: N244S

Domain	Start	End	E-Value	Type
PH	8	114	5.09e-6	SMART
PTBI	130	232	2.82e-57	SMART
IRS	135	232	5.51e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109521

SMART Domains

Protein: ENSMUSP00000105147
Gene: ENSMUSG00000031783

Domain	Start	End	E-Value	Type
RPOLD	18	262	6.79e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211892

Predicted Effect

probably benign
Transcript: ENSMUST00000211939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212120

Predicted Effect

probably benign
Transcript: ENSMUST00000212124

Predicted Effect

probably damaging
Transcript: ENSMUST00000212810
AA Change: N244S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212744

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	A	11: 76,309,991 (GRCm39)	H840L	probably damaging	Het
Anks1	A	G	17: 28,273,291 (GRCm39)	D970G	probably damaging	Het
B4galnt4	A	G	7: 140,644,591 (GRCm39)	K162R	probably null	Het
Bicd2	T	C	13: 49,531,691 (GRCm39)	V311A	probably benign	Het
Cblif	T	C	19: 11,725,027 (GRCm39)	L6P	possibly damaging	Het
Ccdc162	A	G	10: 41,437,123 (GRCm39)	L489P	probably damaging	Het
Cd55	G	T	1: 130,377,219 (GRCm39)	T38K	probably damaging	Het
Cep250	C	A	2: 155,817,676 (GRCm39)	A749E	probably benign	Het
Cntn3	G	T	6: 102,255,262 (GRCm39)	T212N	probably damaging	Het
Cntnap5c	T	A	17: 58,199,097 (GRCm39)		probably benign	Het
Dclre1c	A	G	2: 3,439,089 (GRCm39)	E83G	probably damaging	Het
Dync2h1	T	C	9: 7,142,864 (GRCm39)	T1151A	probably benign	Het
Fer	G	A	17: 64,298,712 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,584 (GRCm39)		probably benign	Het
Ints5	T	C	19: 8,875,014 (GRCm39)	L991P	probably damaging	Het
Itga5	T	C	15: 103,259,261 (GRCm39)	D722G	possibly damaging	Het
Jup	A	G	11: 100,267,565 (GRCm39)	I586T	probably benign	Het
Lig1	G	A	7: 13,030,273 (GRCm39)	G417R	probably damaging	Het
Lig4	A	G	8: 10,022,103 (GRCm39)	I559T	possibly damaging	Het
Mcm3ap	A	G	10: 76,343,300 (GRCm39)	I1731V	probably benign	Het
Mfsd13a	T	G	19: 46,356,192 (GRCm39)	V99G	possibly damaging	Het
Nelfcd	A	G	2: 174,264,391 (GRCm39)	H153R	probably damaging	Het
Nlrp1b	A	G	11: 71,060,637 (GRCm39)	Y724H	possibly damaging	Het
Npas3	C	A	12: 53,548,048 (GRCm39)	N101K	probably damaging	Het
Nuf2	A	G	1: 169,334,807 (GRCm39)		probably benign	Het
Or10am5	T	C	7: 6,517,682 (GRCm39)	T249A	probably damaging	Het
Or11g7	C	T	14: 50,691,442 (GRCm39)	T311I	probably damaging	Het
Or5c1	A	T	2: 37,222,013 (GRCm39)	M85L	probably benign	Het
Polr3c	A	G	3: 96,621,628 (GRCm39)	Y423H	probably damaging	Het
Pomgnt2	A	G	9: 121,811,956 (GRCm39)	L275P	probably damaging	Het
Ptprj	T	G	2: 90,298,808 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,053,156 (GRCm39)	I931T	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Rpl10a	T	C	17: 28,547,967 (GRCm39)	I36T	probably damaging	Het
Tagap1	T	C	17: 7,223,781 (GRCm39)	H305R	probably damaging	Het
Tmem154	A	G	3: 84,591,508 (GRCm39)		probably benign	Het
Vil1	A	G	1: 74,457,682 (GRCm39)	E105G	probably benign	Het
Wdfy4	C	A	14: 32,798,241 (GRCm39)	C2055F	probably damaging	Het
Zfat	T	C	15: 68,052,963 (GRCm39)	N277S	probably damaging	Het

Other mutations in Dok4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Dok4	APN	8	95,593,430 (GRCm39)	missense	probably benign	0.13
R0133:Dok4	UTSW	8	95,591,991 (GRCm39)	missense	probably benign	0.05
R0492:Dok4	UTSW	8	95,591,764 (GRCm39)	missense	probably benign	0.00
R0538:Dok4	UTSW	8	95,591,866 (GRCm39)	missense	probably damaging	1.00
R0689:Dok4	UTSW	8	95,597,547 (GRCm39)	missense	probably benign	0.17
R2261:Dok4	UTSW	8	95,593,140 (GRCm39)	missense	probably damaging	0.96
R2262:Dok4	UTSW	8	95,593,140 (GRCm39)	missense	probably damaging	0.96
R2263:Dok4	UTSW	8	95,593,140 (GRCm39)	missense	probably damaging	0.96
R4234:Dok4	UTSW	8	95,592,292 (GRCm39)	missense	probably damaging	1.00
R4771:Dok4	UTSW	8	95,591,795 (GRCm39)	splice site	probably null
R7497:Dok4	UTSW	8	95,594,053 (GRCm39)	missense	possibly damaging	0.86
R7674:Dok4	UTSW	8	95,593,190 (GRCm39)	missense	probably damaging	1.00
R9299:Dok4	UTSW	8	95,593,469 (GRCm39)	missense	probably benign
R9337:Dok4	UTSW	8	95,593,469 (GRCm39)	missense	probably benign

Posted On

2015-12-18