Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01939:Dctn4'

180816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dctn4

Ensembl Gene

ENSMUSG00000024603

Gene Name

dynactin 4

Synonyms

C130039E17Rik, 4930547K17Rik, 1110001K06Rik, p62

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01939

Quality Score

Status

Chromosome

Chromosomal Location

60659257-60691838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60677202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 174 (M174K)

Ref Sequence

ENSEMBL: ENSMUSP00000153008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025505] [ENSMUST00000223984]

AlphaFold

Q8CBY8

Predicted Effect

probably benign
Transcript: ENSMUST00000025505
AA Change: M174K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025505
Gene: ENSMUSG00000024603
AA Change: M174K

Domain	Start	End	E-Value	Type
Pfam:Dynactin_p62	23	172	4.8e-24	PFAM
Pfam:Dynactin_p62	125	378	8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223794

Predicted Effect

probably benign
Transcript: ENSMUST00000223984
AA Change: M174K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225005

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,885,925 (GRCm39)	D22Y	probably damaging	Het
Ak7	T	C	12: 105,701,183 (GRCm39)	V242A	probably benign	Het
Cacna1b	T	C	2: 24,551,769 (GRCm39)	N1127S	probably damaging	Het
Cacnb2	A	T	2: 14,976,380 (GRCm39)	H267L	probably benign	Het
Ces1b	C	T	8: 93,806,059 (GRCm39)	G61R	probably damaging	Het
Cgnl1	T	A	9: 71,632,286 (GRCm39)	D355V	probably damaging	Het
Col24a1	T	C	3: 145,021,005 (GRCm39)	S459P	probably damaging	Het
Crygd	T	C	1: 65,101,185 (GRCm39)	T137A	probably benign	Het
Evi5	A	G	5: 107,964,790 (GRCm39)		probably benign	Het
Fat2	T	G	11: 55,174,806 (GRCm39)	D1969A	probably benign	Het
Fcrl5	A	T	3: 87,353,606 (GRCm39)	E317V	probably damaging	Het
Foxf2	G	T	13: 31,810,697 (GRCm39)	S212I	probably damaging	Het
Gm21759	T	A	5: 8,230,685 (GRCm39)		probably benign	Het
Gm5414	A	G	15: 101,534,105 (GRCm39)		probably benign	Het
Gm7275	T	C	16: 47,893,946 (GRCm39)		noncoding transcript	Het
Hspa9	T	C	18: 35,071,761 (GRCm39)	E613G	possibly damaging	Het
Il1rl1	A	G	1: 40,501,168 (GRCm39)	I515V	possibly damaging	Het
Ins1	G	T	19: 52,253,173 (GRCm39)	A38S	probably damaging	Het
Klhl31	A	G	9: 77,562,488 (GRCm39)	N418D	probably benign	Het
Magi3	T	C	3: 103,961,778 (GRCm39)	K417E	probably damaging	Het
Msh4	A	G	3: 153,563,226 (GRCm39)	Y823H	probably damaging	Het
Myo6	T	A	9: 80,168,100 (GRCm39)	D421E	probably damaging	Het
Myom3	T	C	4: 135,492,900 (GRCm39)	S150P	possibly damaging	Het
Nectin1	C	T	9: 43,703,871 (GRCm39)		probably benign	Het
Nkx1-2	A	T	7: 132,201,203 (GRCm39)	I18N	probably damaging	Het
Or4s2b	A	G	2: 88,509,077 (GRCm39)	T286A	probably damaging	Het
Or5b113	A	T	19: 13,342,807 (GRCm39)	I272F	probably benign	Het
Or8g33	A	C	9: 39,337,634 (GRCm39)	H244Q	probably damaging	Het
Or9g4	T	C	2: 85,505,285 (GRCm39)	D70G	probably damaging	Het
Pde8b	T	C	13: 95,232,232 (GRCm39)	R237G	probably damaging	Het
Pp2d1	G	A	17: 53,822,167 (GRCm39)	L300F	probably damaging	Het
Ptpn21	A	T	12: 98,655,420 (GRCm39)	Y516N	probably damaging	Het
Ptprm	T	A	17: 67,370,158 (GRCm39)		probably benign	Het
Rabggtb	A	G	3: 153,617,650 (GRCm39)	V16A	probably damaging	Het
Rangap1	A	T	15: 81,604,864 (GRCm39)	C82S	probably damaging	Het
Rasal2	T	C	1: 157,003,480 (GRCm39)	E393G	probably damaging	Het
Rasgrf1	A	T	9: 89,856,889 (GRCm39)	E449V	probably damaging	Het
Rrp12	A	T	19: 41,859,334 (GRCm39)	H1143Q	probably damaging	Het
Scap	T	C	9: 110,208,549 (GRCm39)	I530T	probably benign	Het
Sel1l	T	A	12: 91,783,021 (GRCm39)	Q482L	probably damaging	Het
Serpinb9b	T	C	13: 33,223,648 (GRCm39)	M280T	probably damaging	Het
Slc39a10	T	A	1: 46,871,895 (GRCm39)	H348L	probably benign	Het
Slc7a2	T	C	8: 41,367,120 (GRCm39)	L542P	possibly damaging	Het
Tas1r2	A	T	4: 139,396,488 (GRCm39)	Q609L	probably damaging	Het
Tbc1d14	A	T	5: 36,665,781 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,365,262 (GRCm39)		probably null	Het
Tpo	T	C	12: 30,134,646 (GRCm39)	T771A	possibly damaging	Het
Tpr	G	A	1: 150,289,496 (GRCm39)	R609H	possibly damaging	Het
Usp34	T	A	11: 23,295,141 (GRCm39)		probably benign	Het
Vmn1r193	G	T	13: 22,403,893 (GRCm39)	S33*	probably null	Het
Vmn2r104	A	C	17: 20,250,187 (GRCm39)	S695A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r24	A	G	6: 123,764,404 (GRCm39)	D427G	probably benign	Het
Zfp362	A	G	4: 128,680,846 (GRCm39)	S160P	probably benign	Het

Other mutations in Dctn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0040:Dctn4	UTSW	18	60,677,114 (GRCm39)	missense	possibly damaging	0.71
R1406:Dctn4	UTSW	18	60,689,402 (GRCm39)	missense	probably benign
R1406:Dctn4	UTSW	18	60,689,402 (GRCm39)	missense	probably benign
R1464:Dctn4	UTSW	18	60,671,478 (GRCm39)	missense	probably damaging	0.97
R1464:Dctn4	UTSW	18	60,671,478 (GRCm39)	missense	probably damaging	0.97
R1785:Dctn4	UTSW	18	60,679,407 (GRCm39)	critical splice donor site	probably null
R1786:Dctn4	UTSW	18	60,679,407 (GRCm39)	critical splice donor site	probably null
R2035:Dctn4	UTSW	18	60,671,489 (GRCm39)	missense	possibly damaging	0.91
R2064:Dctn4	UTSW	18	60,671,349 (GRCm39)	missense	possibly damaging	0.60
R4020:Dctn4	UTSW	18	60,671,329 (GRCm39)	splice site	probably benign
R4748:Dctn4	UTSW	18	60,683,308 (GRCm39)	missense	probably damaging	1.00
R4786:Dctn4	UTSW	18	60,688,267 (GRCm39)	missense	probably damaging	1.00
R4976:Dctn4	UTSW	18	60,689,464 (GRCm39)	missense	probably benign	0.00
R5034:Dctn4	UTSW	18	60,685,956 (GRCm39)	missense	probably benign	0.23
R5110:Dctn4	UTSW	18	60,679,387 (GRCm39)	missense	probably damaging	0.96
R6210:Dctn4	UTSW	18	60,679,865 (GRCm39)	nonsense	probably null
R7836:Dctn4	UTSW	18	60,679,348 (GRCm39)	missense	probably benign	0.00
R8221:Dctn4	UTSW	18	60,689,401 (GRCm39)	missense	probably benign
R8261:Dctn4	UTSW	18	60,659,343 (GRCm39)	missense	possibly damaging	0.61
R8299:Dctn4	UTSW	18	60,678,872 (GRCm39)	missense	probably benign	0.01
R9024:Dctn4	UTSW	18	60,678,894 (GRCm39)	critical splice donor site	probably null
R9066:Dctn4	UTSW	18	60,659,387 (GRCm39)	missense	probably damaging	1.00
R9177:Dctn4	UTSW	18	60,659,304 (GRCm39)	start codon destroyed	probably null	1.00
R9268:Dctn4	UTSW	18	60,659,304 (GRCm39)	start codon destroyed	probably null	1.00

Posted On

2014-05-07