Mutagenetix > Incidental Mutation

Incidental Mutation 'R9773:Ankrd65'

733520

Institutional Source

Beutler Lab

Gene Symbol

Ankrd65

Ensembl Gene

ENSMUSG00000078487

Gene Name

ankyrin repeat domain 65

Synonyms

E230028L10Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9773 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155875432-155884132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155877424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 312 (T312P)

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 damaging
Transcript: ENSMUST00000165000
AA Change: T312P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129173
Gene: ENSMUSG00000078487
AA Change: T312P

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,057 (GRCm39)	Y483H	possibly damaging	Het
Abca17	A	G	17: 24,508,565 (GRCm39)	L990P	probably damaging	Het
Atp23	G	A	10: 126,734,763 (GRCm39)	T103M	possibly damaging	Het
Bmpr2	T	A	1: 59,907,497 (GRCm39)	S863R	probably damaging	Het
Cacna1c	T	A	6: 118,647,371 (GRCm39)	N992I		Het
Cacnb2	A	G	2: 14,976,452 (GRCm39)	E291G	probably damaging	Het
Calcrl	T	C	2: 84,200,462 (GRCm39)	Q106R	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cngb1	G	A	8: 95,975,042 (GRCm39)	H1144Y	probably damaging	Het
Cnot4	A	T	6: 35,056,920 (GRCm39)	N50K	probably damaging	Het
Coasy	T	C	11: 100,975,163 (GRCm39)	L240P	probably damaging	Het
D7Ertd443e	G	A	7: 133,959,803 (GRCm39)	T12M	probably benign	Het
Exoc3l2	A	G	7: 19,203,697 (GRCm39)	I96M		Het
Fbn2	A	G	18: 58,143,481 (GRCm39)	L2858P	probably benign	Het
Fbxw21	A	G	9: 108,977,128 (GRCm39)	S194P	possibly damaging	Het
Fry	T	C	5: 150,322,728 (GRCm39)	L1040P	probably damaging	Het
Gimap8	C	T	6: 48,633,568 (GRCm39)	P300S	unknown	Het
Gm10801	T	G	2: 98,494,345 (GRCm39)	F141V	probably benign	Het
Gm21903	G	A	17: 39,353,541 (GRCm39)	T25I	unknown	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Hs6st3	A	T	14: 120,106,948 (GRCm39)	D452V	probably benign	Het
Igkv5-43	T	A	6: 69,752,858 (GRCm39)	I75F	probably damaging	Het
Itgad	G	A	7: 127,789,222 (GRCm39)	R562H	probably damaging	Het
Kbtbd12	T	A	6: 88,524,744 (GRCm39)	D613V	probably damaging	Het
Kcnn2	A	G	18: 45,788,365 (GRCm39)	T363A	probably damaging	Het
Kyat3	A	G	3: 142,431,820 (GRCm39)	I213M	probably damaging	Het
Lrig2	A	T	3: 104,368,838 (GRCm39)	H948Q	probably benign	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Myh4	C	T	11: 67,137,263 (GRCm39)	H495Y	probably damaging	Het
Or13a23-ps1	T	C	7: 140,118,649 (GRCm39)	V73A	probably benign	Het
Or4d10b	A	T	19: 12,036,939 (GRCm39)	M59K	possibly damaging	Het
Or6c69c	T	A	10: 129,910,360 (GRCm39)	I27N	possibly damaging	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Plekhg2	G	A	7: 28,069,743 (GRCm39)	P97S	probably damaging	Het
Pon1	T	C	6: 5,177,339 (GRCm39)	Y190C	possibly damaging	Het
Pth1r	C	A	9: 110,556,233 (GRCm39)	R213S	possibly damaging	Het
Ptprg	A	G	14: 12,199,806 (GRCm38)	D848G	probably damaging	Het
Rnpepl1	C	A	1: 92,847,559 (GRCm39)	D715E	probably damaging	Het
Serpinb3b	C	A	1: 107,085,416 (GRCm39)	K108N	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a30	A	T	19: 8,321,754 (GRCm39)	Y437N	probably benign	Het
Slc2a7	C	T	4: 150,234,044 (GRCm39)	T53I	possibly damaging	Het
Spag1	A	G	15: 36,234,711 (GRCm39)	T824A	probably benign	Het
Spmip7	G	A	11: 11,438,572 (GRCm39)	V272M	unknown	Het
Synj2	T	A	17: 6,094,232 (GRCm39)	Y1153N	probably benign	Het
Ttll2	A	T	17: 7,618,676 (GRCm39)	I417K	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Uevld	A	G	7: 46,597,659 (GRCm39)		probably null	Het
Vmn2r38	A	G	7: 9,097,806 (GRCm39)	S96P	probably damaging	Het
Vmn2r92	A	G	17: 18,386,949 (GRCm39)	N96S	probably damaging	Het
Vmn2r97	T	A	17: 19,168,221 (GRCm39)	I825N	probably benign	Het
Vps13d	T	A	4: 144,818,619 (GRCm39)	M3083L		Het
Wdr35	A	G	12: 9,039,990 (GRCm39)	N365S	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
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

Predicted Primers

PCR Primer
(F):5'- TCTTTTCCAGGACATTGAGGTC -3'
(R):5'- ACAGGAAATCAGGCCATGC -3'

Sequencing Primer
(F):5'- GACATTGAGGTCCTGCTGG -3'
(R):5'- CACTGTGTCCTCAAGGTGGAG -3'

Posted On

2022-11-14