Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Ankrd65'

281716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd65

Ensembl Gene

ENSMUSG00000078487

Gene Name

ankyrin repeat domain 65

Synonyms

E230028L10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

155875432-155884132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155875848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 23 (D23G)

Ref Sequence

ENSEMBL: ENSMUSP00000101218 (fasta)

Gene Model

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

AlphaFold

F6YK91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105593
AA Change: D23G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101218
Gene: ENSMUSG00000078487
AA Change: D23G

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 benign
Transcript: ENSMUST00000165000
AA Change: D41G

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129173
Gene: ENSMUSG00000078487
AA Change: D41G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185136

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Grxcr1	A	G	5: 68,267,821 (GRCm39)	E190G	probably damaging	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Hspa12b	C	T	2: 130,985,655 (GRCm39)		probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Klra8	T	C	6: 130,102,199 (GRCm39)	N79D	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Nipal1	A	G	5: 72,824,274 (GRCm39)	D206G	probably damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Stc2	T	G	11: 31,317,875 (GRCm39)		probably benign	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Washc5	C	A	15: 59,241,060 (GRCm39)	V92L	probably benign	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	Het

Other mutations in Ankrd65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6790:Ankrd65	UTSW	4	155,877,260 (GRCm39)	splice site	probably null
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

Posted On

2015-04-16