Mutagenetix > Incidental Mutation

Incidental Mutation 'R8299:Dctn4'

639167

Institutional Source

Beutler Lab

Gene Symbol

Dctn4

Ensembl Gene

ENSMUSG00000024603

Gene Name

dynactin 4

Synonyms

C130039E17Rik, 4930547K17Rik, 1110001K06Rik, p62

MMRRC Submission

067787-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8299 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60659257-60691838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60678872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 197 (I197N)

Ref Sequence

ENSEMBL: ENSMUSP00000025505 (fasta)

Gene Model

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

AlphaFold

Q8CBY8

Predicted Effect

probably benign
Transcript: ENSMUST00000025505
AA Change: I197N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025505
Gene: ENSMUSG00000024603
AA Change: I197N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	A	10: 69,811,981 (GRCm39)	P1216Q	probably damaging	Het
Aspscr1	T	C	11: 120,599,900 (GRCm39)	Y164H		Het
Atp13a3	A	C	16: 30,152,619 (GRCm39)	F1021C	probably damaging	Het
Bcl9	T	C	3: 97,112,852 (GRCm39)	D1201G	probably damaging	Het
Bora	G	A	14: 99,305,570 (GRCm39)	R313Q	probably benign	Het
Cdh19	A	G	1: 110,847,278 (GRCm39)	Y444H	probably benign	Het
Cep70	A	T	9: 99,144,914 (GRCm39)	M87L	possibly damaging	Het
Clstn3	A	G	6: 124,414,332 (GRCm39)		probably null	Het
Cntnap4	G	A	8: 113,500,324 (GRCm39)	G539S	probably damaging	Het
Csf2rb	T	A	15: 78,230,669 (GRCm39)	Y471N	possibly damaging	Het
Ednrb	A	G	14: 104,060,936 (GRCm39)	L163P	probably damaging	Het
Elovl2	T	C	13: 41,345,396 (GRCm39)	N101D	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etl4	T	A	2: 20,748,874 (GRCm39)	I404K	possibly damaging	Het
Gadd45a	A	G	6: 67,014,183 (GRCm39)		probably null	Het
Gfod2	T	C	8: 106,454,794 (GRCm39)	T29A	probably benign	Het
Hltf	A	G	3: 20,136,986 (GRCm39)	K408E	possibly damaging	Het
Inf2	A	G	12: 112,570,546 (GRCm39)	T362A	probably benign	Het
Klhl12	G	A	1: 134,416,678 (GRCm39)	G467R	probably damaging	Het
Lrrk2	A	T	15: 91,557,443 (GRCm39)		probably benign	Het
Mcee	G	A	7: 64,061,621 (GRCm39)	E29K	unknown	Het
Mki67	A	T	7: 135,306,349 (GRCm39)	I571N	probably damaging	Het
Morc3	T	C	16: 93,650,088 (GRCm39)	Y290H	probably damaging	Het
Mtcl2	T	G	2: 156,862,651 (GRCm39)	E1426A	possibly damaging	Het
Muc4	A	G	16: 32,576,271 (GRCm39)	T1924A	unknown	Het
Myh14	T	A	7: 44,276,472 (GRCm39)	D1170V	probably damaging	Het
Or10al5	G	T	17: 38,062,891 (GRCm39)	E49*	probably null	Het
Or51a6	T	C	7: 102,604,739 (GRCm39)	E30G	probably damaging	Het
Or55b4	T	C	7: 102,133,409 (GRCm39)	H306R	probably benign	Het
Or6c66	T	C	10: 129,461,829 (GRCm39)	I34V	probably benign	Het
Pcdhb17	T	C	18: 37,618,408 (GRCm39)	I66T	probably damaging	Het
Pkhd1l1	T	C	15: 44,445,330 (GRCm39)	V3734A	probably benign	Het
Plcb1	T	C	2: 135,177,396 (GRCm39)	L576P	probably damaging	Het
Plxnc1	T	A	10: 94,663,041 (GRCm39)	N1203Y	probably benign	Het
Pramel16	T	C	4: 143,677,327 (GRCm39)	N84S	probably benign	Het
Prkn	T	G	17: 11,456,408 (GRCm39)	S77R	probably benign	Het
Rev3l	C	T	10: 39,697,537 (GRCm39)	S678L	probably benign	Het
Rims3	T	C	4: 120,746,569 (GRCm39)	Y197H	probably damaging	Het
S1pr4	A	G	10: 81,335,267 (GRCm39)	M69T	probably benign	Het
Sf3a1	T	C	11: 4,129,420 (GRCm39)	Y757H	possibly damaging	Het
Slc30a9	T	A	5: 67,484,248 (GRCm39)	N128K	probably damaging	Het
Slc35a4	T	C	18: 36,815,980 (GRCm39)	V270A	possibly damaging	Het
Speg	A	C	1: 75,364,480 (GRCm39)	D287A	possibly damaging	Het
St18	T	C	1: 6,873,216 (GRCm39)	V317A	probably benign	Het
Stk11	G	T	10: 79,963,867 (GRCm39)	E350D	probably benign	Het
Strn3	A	G	12: 51,694,890 (GRCm39)	L291S	probably damaging	Het
Susd1	C	T	4: 59,315,773 (GRCm39)	V733I	probably benign	Het
Tep1	T	C	14: 51,105,502 (GRCm39)	R173G	probably benign	Het
Tmem115	T	C	9: 107,411,745 (GRCm39)	V23A	possibly damaging	Het
Top2b	A	G	14: 16,386,123 (GRCm38)	N110D	possibly damaging	Het
Wfikkn2	C	T	11: 94,129,890 (GRCm39)	V84M	probably damaging	Het

Other mutations in Dctn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01939:Dctn4	APN	18	60,677,202 (GRCm39)	missense	probably benign	0.12
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCTGCTGGGCTTCACTAG -3'
(R):5'- GCAACGACTCAAGTATTAGCTACTCC -3'

Sequencing Primer
(F):5'- CTGCTGGGCTTCACTAGTTTTG -3'
(R):5'- GACCAGATTGGCCTCTATCTCAGAG -3'

Posted On

2020-07-28