Mutagenetix > Incidental Mutation

Incidental Mutation 'R3873:Ankrd61'

276666

Institutional Source

Beutler Lab

Gene Symbol

Ankrd61

Ensembl Gene

ENSMUSG00000029607

Gene Name

ankyrin repeat domain 61

Synonyms

4921520G13Rik

MMRRC Submission

040791-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R3873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143827455-143831885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143828646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 67 (T67S)

Ref Sequence

ENSEMBL: ENSMUSP00000106346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079624] [ENSMUST00000100487] [ENSMUST00000110717] [ENSMUST00000110718]

AlphaFold

Q9CQM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000079624
AA Change: T68S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078571
Gene: ENSMUSG00000029607
AA Change: T68S

Domain	Start	End	E-Value	Type
ANK	36	61	2.55e2	SMART
ANK	65	118	8.5e2	SMART
ANK	124	153	1.27e-2	SMART
ANK	157	186	7.95e-4	SMART
ANK	191	230	3.74e0	SMART
ANK	234	263	3.46e-4	SMART
Blast:ANK	267	300	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000100487

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	62	81	N/A	INTRINSIC
Pfam:Pkinase_Tyr	167	242	5.6e-6	PFAM
Pfam:Pkinase	167	257	1.9e-15	PFAM
low complexity region	314	320	N/A	INTRINSIC
Pfam:Pkinase	365	580	1.3e-31	PFAM
Pfam:Pkinase_Tyr	373	578	1.9e-19	PFAM
coiled coil region	585	619	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110717
AA Change: T110S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106345
Gene: ENSMUSG00000029607
AA Change: T110S

Domain	Start	End	E-Value	Type
Blast:ANK	28	57	6e-11	BLAST
ANK	78	103	1.6e0	SMART
ANK	107	160	5.6e0	SMART
ANK	166	195	8.4e-5	SMART
ANK	199	228	5.3e-6	SMART
ANK	233	272	2.4e-2	SMART
ANK	276	305	2.3e-6	SMART
Blast:ANK	309	342	5e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000110718
AA Change: T67S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106346
Gene: ENSMUSG00000029607
AA Change: T67S

Domain	Start	End	E-Value	Type
ANK	35	60	2.55e2	SMART
ANK	64	117	8.5e2	SMART
ANK	123	152	1.27e-2	SMART
ANK	156	185	7.95e-4	SMART
ANK	190	229	3.74e0	SMART
ANK	233	262	3.46e-4	SMART
Blast:ANK	266	299	4e-11	BLAST

Meta Mutation Damage Score

0.2191

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acaca	A	G	11: 84,203,547 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,305,125 (GRCm39)	T110A	probably benign	Het
Agtpbp1	T	C	13: 59,608,410 (GRCm39)	M175V	possibly damaging	Het
Akt1	T	C	12: 112,622,967 (GRCm39)	N367S	probably benign	Het
Arl8a	T	C	1: 135,080,610 (GRCm39)		probably null	Het
Arvcf	G	A	16: 18,221,783 (GRCm39)	R736Q	probably damaging	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Cep295	A	T	9: 15,244,661 (GRCm39)	V1265E	probably damaging	Het
Cfap299	A	T	5: 98,885,482 (GRCm39)	I130F	probably damaging	Het
Cyp2c29	A	G	19: 39,317,588 (GRCm39)	D397G	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dst	A	G	1: 34,328,701 (GRCm39)	T4590A	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Fscb	G	T	12: 64,519,906 (GRCm39)	P520Q	unknown	Het
Gli1	T	A	10: 127,167,225 (GRCm39)	N676I	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Il7	A	T	3: 7,669,224 (GRCm39)	V4D	probably damaging	Het
Itgae	T	A	11: 73,004,442 (GRCm39)	I243N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Ly6g6e	T	C	17: 35,296,159 (GRCm39)	V10A	probably benign	Het
Morc3	G	A	16: 93,659,324 (GRCm39)	V411I	probably damaging	Het
Mrpl32	G	T	13: 14,787,630 (GRCm39)		probably benign	Het
Ncald	G	A	15: 37,397,497 (GRCm39)	A61V	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or5m10b	T	A	2: 85,699,306 (GRCm39)	Y123*	probably null	Het
Pgam5	T	C	5: 110,413,465 (GRCm39)	Y210C	probably damaging	Het
Phf5a	T	C	15: 81,754,628 (GRCm39)	N50D	probably benign	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Sacs	A	G	14: 61,429,735 (GRCm39)	K595R	possibly damaging	Het
Scyl3	A	G	1: 163,778,206 (GRCm39)	N448S	probably benign	Het
Serpinb9g	A	T	13: 33,670,518 (GRCm39)	D2V	probably benign	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Smg1	T	C	7: 117,753,885 (GRCm39)		probably benign	Het
Taar1	T	C	10: 23,796,482 (GRCm39)	L60P	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Ubr4	T	C	4: 139,151,301 (GRCm39)	V623A	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vipr2	T	C	12: 116,099,724 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,488,177 (GRCm39)	M350T	probably benign	Het
Vmn2r22	T	C	6: 123,614,339 (GRCm39)	E417G	possibly damaging	Het
Vmn2r9	C	A	5: 108,995,701 (GRCm39)	V316F	probably benign	Het
Zfp53	C	T	17: 21,728,893 (GRCm39)	P309S	probably damaging	Het

Other mutations in Ankrd61

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:Ankrd61	APN	5	143,827,954 (GRCm39)	missense	probably damaging	1.00
R0037:Ankrd61	UTSW	5	143,831,795 (GRCm39)	missense	probably damaging	1.00
R0372:Ankrd61	UTSW	5	143,827,993 (GRCm39)	missense	probably benign	0.00
R0631:Ankrd61	UTSW	5	143,831,697 (GRCm39)	missense	probably damaging	1.00
R2106:Ankrd61	UTSW	5	143,828,564 (GRCm39)	missense	probably damaging	1.00
R2508:Ankrd61	UTSW	5	143,833,894 (GRCm39)	unclassified	probably benign
R5057:Ankrd61	UTSW	5	143,831,613 (GRCm39)	missense	probably benign	0.01
R5386:Ankrd61	UTSW	5	143,828,482 (GRCm39)	missense	possibly damaging	0.63
R6651:Ankrd61	UTSW	5	143,830,438 (GRCm39)	missense	probably damaging	0.98
R8729:Ankrd61	UTSW	5	143,827,803 (GRCm39)	missense	probably benign	0.00
R8745:Ankrd61	UTSW	5	143,828,237 (GRCm39)	missense	possibly damaging	0.79
R8815:Ankrd61	UTSW	5	143,831,336 (GRCm39)	missense	probably benign
R9005:Ankrd61	UTSW	5	143,831,676 (GRCm39)	missense	probably benign	0.01
R9110:Ankrd61	UTSW	5	143,831,759 (GRCm39)	missense	possibly damaging	0.65
R9211:Ankrd61	UTSW	5	143,828,358 (GRCm39)	missense	probably benign	0.08
R9510:Ankrd61	UTSW	5	143,828,322 (GRCm39)	missense	possibly damaging	0.62
X0024:Ankrd61	UTSW	5	143,828,619 (GRCm39)	missense	probably null	1.00
X0024:Ankrd61	UTSW	5	143,828,618 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTGTATTATGGCCAGGTG -3'
(R):5'- GCAACACAGATTGCCAATCTTC -3'

Sequencing Primer
(F):5'- CCAGGTGGAGGGCTGAATG -3'
(R):5'- GCACATGGTTTATCAGCCAG -3'

Posted On

2015-04-06