Mutagenetix > Incidental Mutation

Incidental Mutation 'R6790:Ankrd65'

543622

Institutional Source

Beutler Lab

Gene Symbol

Ankrd65

Ensembl Gene

ENSMUSG00000078487

Gene Name

ankyrin repeat domain 65

Synonyms

E230028L10Rik

MMRRC Submission

044903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R6790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155875432-155884132 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 155877260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105593] [ENSMUST00000165000]

AlphaFold

F6YK91

Predicted Effect

probably benign
Transcript: ENSMUST00000105593

SMART Domains

Protein: ENSMUSP00000101218
Gene: ENSMUSG00000078487

Domain	Start	End	E-Value	Type
ANK	32	61	2.32e2	SMART
ANK	65	94	1.31e-4	SMART
ANK	98	127	2.16e-5	SMART
ANK	165	195	2.47e0	SMART
low complexity region	205	215	N/A	INTRINSIC
low complexity region	225	237	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000165000

SMART Domains

Protein: ENSMUSP00000129173
Gene: ENSMUSG00000078487

Domain	Start	End	E-Value	Type
ANK	50	79	2.32e2	SMART
ANK	83	112	1.31e-4	SMART
ANK	116	145	2.16e-5	SMART
Blast:ANK	149	178	4e-6	BLAST
ANK	183	213	2.47e0	SMART
low complexity region	223	233	N/A	INTRINSIC
ANK	243	272	2.15e0	SMART
ANK	276	305	8.99e-3	SMART
ANK	309	338	6.76e-7	SMART
ANK	342	371	9.93e-5	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,987,448 (GRCm39)	S457T	probably damaging	Het
Adgrf3	A	G	5: 30,401,385 (GRCm39)	V881A	probably benign	Het
Ascc3	A	G	10: 50,521,808 (GRCm39)	E441G	probably damaging	Het
Atf5	A	T	7: 44,462,679 (GRCm39)		probably null	Het
Cfap97	G	T	8: 46,623,113 (GRCm39)	V168L	possibly damaging	Het
Crh	T	G	3: 19,748,459 (GRCm39)	E61A	probably damaging	Het
Cx3cr1	C	T	9: 119,880,833 (GRCm39)	V190M	probably damaging	Het
Cyp3a59	A	C	5: 146,033,143 (GRCm39)	M172L	probably benign	Het
Dnm1	T	C	2: 32,223,079 (GRCm39)	K445R	probably damaging	Het
Eng	C	A	2: 32,559,457 (GRCm39)	T82N	probably damaging	Het
Fkbp15	T	C	4: 62,222,996 (GRCm39)	T968A	probably benign	Het
Fsip2	A	G	2: 82,821,283 (GRCm39)	N5672S	possibly damaging	Het
Gm21149	A	C	5: 15,677,103 (GRCm39)	D250E	unknown	Het
Gon4l	A	G	3: 88,766,305 (GRCm39)	E448G	probably damaging	Het
Hrnr	T	C	3: 93,236,382 (GRCm39)	S2207P	unknown	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Kdm4c	A	G	4: 74,309,698 (GRCm39)	K954E	probably damaging	Het
Lrrc20	G	T	10: 61,362,898 (GRCm39)	V48F	probably damaging	Het
Mga	A	G	2: 119,754,235 (GRCm39)	I915V	probably damaging	Het
Npc1l1	C	T	11: 6,164,260 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,142,304 (GRCm39)	T247A	probably benign	Het
Or3a1b	T	A	11: 74,012,427 (GRCm39)	L104H	probably damaging	Het
Pate13	G	T	9: 35,820,127 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,373,261 (GRCm39)	V176I	probably benign	Het
Pira2	A	C	7: 3,845,442 (GRCm39)	V314G	probably damaging	Het
Potefam3e	A	T	8: 19,779,801 (GRCm39)	I14F	probably benign	Het
Rims1	T	C	1: 22,507,278 (GRCm39)	D624G	probably damaging	Het
Secisbp2	A	G	13: 51,824,939 (GRCm39)	T396A	probably benign	Het
Slc28a3	T	C	13: 58,730,464 (GRCm39)	D84G	probably benign	Het
Slc8a3	T	C	12: 81,361,206 (GRCm39)	T538A	probably benign	Het
Slk	T	A	19: 47,624,007 (GRCm39)	C991S	probably damaging	Het
Stmn1	T	C	4: 134,198,125 (GRCm39)	L54S	probably damaging	Het
Tuft1	C	G	3: 94,535,537 (GRCm39)	E128D	possibly damaging	Het
Ugt8a	T	C	3: 125,665,340 (GRCm39)	T386A	possibly damaging	Het
Zdhhc20	A	G	14: 58,127,600 (GRCm39)	V13A	probably benign	Het

Other mutations in Ankrd65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02145:Ankrd65	APN	4	155,875,848 (GRCm39)	missense	possibly damaging	0.85
R0030:Ankrd65	UTSW	4	155,875,942 (GRCm39)	missense	probably damaging	0.96
R0492:Ankrd65	UTSW	4	155,875,133 (GRCm39)	splice site	probably benign
R1468:Ankrd65	UTSW	4	155,877,362 (GRCm39)	missense	probably benign	0.35
R1468:Ankrd65	UTSW	4	155,877,362 (GRCm39)	missense	probably benign	0.35
R1660:Ankrd65	UTSW	4	155,876,528 (GRCm39)	missense	probably damaging	0.98
R2120:Ankrd65	UTSW	4	155,876,530 (GRCm39)	missense	probably benign
R2516:Ankrd65	UTSW	4	155,875,868 (GRCm39)	missense	possibly damaging	0.53
R4781:Ankrd65	UTSW	4	155,877,493 (GRCm39)	missense	possibly damaging	0.90
R7806:Ankrd65	UTSW	4	155,877,437 (GRCm39)	missense	probably benign	0.39
R9171:Ankrd65	UTSW	4	155,875,800 (GRCm39)	missense	probably benign	0.00
R9773:Ankrd65	UTSW	4	155,877,424 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCCTTTGCACAGTGTTG -3'
(R):5'- GCAGCATTGATGTGTGCAC -3'

Sequencing Primer
(F):5'- CCCTTTGCACAGTGTTGAATTTAATC -3'
(R):5'- GATGGCTGACAACTTCTACATGGC -3'

Posted On

2019-04-04