Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Anks3'

572243

Institutional Source

Beutler Lab

Gene Symbol

Anks3

Ensembl Gene

ENSMUSG00000022515

Gene Name

ankyrin repeat and sterile alpha motif domain containing 3

Synonyms

2700067D09Rik

MMRRC Submission

045456-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4759300-4782069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4773735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 187 (Y187C)

Ref Sequence

ENSEMBL: ENSMUSP00000023157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000229017] [ENSMUST00000229765]

AlphaFold

Q9CZK6

Predicted Effect

probably benign
Transcript: ENSMUST00000023157
AA Change: Y187C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: Y187C

Domain	Start	End	E-Value	Type
ANK	34	64	1.25e2	SMART
ANK	68	97	9.93e-5	SMART
ANK	101	130	9.13e-4	SMART
ANK	134	163	2.45e-4	SMART
ANK	168	197	9.27e-5	SMART
ANK	201	230	5.87e2	SMART
SAM	421	487	9.8e-12	SMART
coiled coil region	500	533	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229017
AA Change: Y64C

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000229765
AA Change: Y187C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.2574

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,686,262 (GRCm39)	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,675,389 (GRCm39)	T260M	possibly damaging	Het
Atp2c2	A	T	8: 120,456,991 (GRCm39)	I198F	probably benign	Het
Bsn	T	C	9: 107,990,683 (GRCm39)	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,955,945 (GRCm39)	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,006,965 (GRCm39)	R594H	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldn1	G	T	16: 26,179,606 (GRCm39)	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,508,367 (GRCm39)	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,590,657 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,880,136 (GRCm39)	T351A	probably benign	Het
Csmd1	T	C	8: 16,042,713 (GRCm39)	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,804,551 (GRCm39)	Q1297K	probably benign	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnah8	T	C	17: 30,986,939 (GRCm39)		probably null	Het
Dst	G	T	1: 34,227,472 (GRCm39)	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,809,585 (GRCm39)	M1T	probably null	Het
Fasn	A	T	11: 120,704,802 (GRCm39)	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,479,702 (GRCm39)	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,885,034 (GRCm39)	F49L	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hormad1	A	T	3: 95,483,628 (GRCm39)	T147S	probably damaging	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Itgb8	A	G	12: 119,166,210 (GRCm39)	V107A	probably benign	Het
Kat2a	C	T	11: 100,599,392 (GRCm39)	A533T	probably benign	Het
Kif20b	T	C	19: 34,913,071 (GRCm39)	L328P	probably damaging	Het
Lims1	T	C	10: 58,245,442 (GRCm39)	F157S	probably damaging	Het
Lrp2	G	T	2: 69,331,036 (GRCm39)	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 96,929,706 (GRCm39)	M43I	probably benign	Het
Lrrk2	T	C	15: 91,584,207 (GRCm39)		probably null	Het
Meox2	A	T	12: 37,158,797 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,714,838 (GRCm39)		probably null	Het
Mfsd5	T	A	15: 102,189,427 (GRCm39)	F266L	probably damaging	Het
Miga2	A	G	2: 30,272,083 (GRCm39)	T468A	probably damaging	Het
Mmel1	T	A	4: 154,973,665 (GRCm39)	L316Q	not run	Het
Ndufa9	C	A	6: 126,811,421 (GRCm39)	G232C	probably damaging	Het
Obox2	A	T	7: 15,131,145 (GRCm39)	K84*	probably null	Het
Or4f58	T	A	2: 111,851,787 (GRCm39)	R137S	probably benign	Het
Or51a39	T	A	7: 102,363,306 (GRCm39)	I105F	possibly damaging	Het
Otogl	G	T	10: 107,737,112 (GRCm39)	Q101K	probably damaging	Het
Pcnx2	C	T	8: 126,534,766 (GRCm39)	V1288M	probably damaging	Het
Pde10a	T	A	17: 9,161,824 (GRCm39)	W220R	probably benign	Het
Recql5	T	C	11: 115,819,198 (GRCm39)	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,796,602 (GRCm39)	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,599,191 (GRCm39)	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,007,035 (GRCm39)	E2K	unknown	Het
Shcbp1l	C	A	1: 153,300,986 (GRCm39)	T6K	probably benign	Het
Slc22a15	A	C	3: 101,785,213 (GRCm39)	L353R	possibly damaging	Het
Sqle	T	C	15: 59,189,658 (GRCm39)	I100T	probably benign	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tll1	A	T	8: 64,504,391 (GRCm39)	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,116,676 (GRCm39)	S118P	probably benign	Het
Tmco5	G	T	2: 116,717,226 (GRCm39)	V169L	probably benign	Het
Trpv1	A	G	11: 73,131,499 (GRCm39)	K346E	probably damaging	Het
Ttk	G	A	9: 83,736,930 (GRCm39)	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,816,406 (GRCm39)	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,487,212 (GRCm39)	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,044,948 (GRCm39)	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,645 (GRCm39)	S231T	unknown	Het

Other mutations in Anks3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Anks3	APN	16	4,771,793 (GRCm39)	missense	possibly damaging	0.93
IGL01705:Anks3	APN	16	4,765,587 (GRCm39)	missense	probably benign	0.00
IGL01953:Anks3	APN	16	4,778,408 (GRCm39)	missense	probably damaging	1.00
IGL02378:Anks3	APN	16	4,768,626 (GRCm39)	missense	possibly damaging	0.91
IGL03126:Anks3	APN	16	4,775,891 (GRCm39)	missense	probably damaging	1.00
R0051:Anks3	UTSW	16	4,765,613 (GRCm39)	missense	probably benign	0.16
R0051:Anks3	UTSW	16	4,765,613 (GRCm39)	missense	probably benign	0.16
R0661:Anks3	UTSW	16	4,766,198 (GRCm39)	missense	probably damaging	1.00
R0855:Anks3	UTSW	16	4,773,811 (GRCm39)	splice site	probably benign
R0932:Anks3	UTSW	16	4,771,691 (GRCm39)	missense	probably damaging	1.00
R1604:Anks3	UTSW	16	4,766,117 (GRCm39)	missense	probably damaging	0.99
R1773:Anks3	UTSW	16	4,765,158 (GRCm39)	missense	probably benign
R1846:Anks3	UTSW	16	4,771,748 (GRCm39)	missense	probably benign	0.07
R1928:Anks3	UTSW	16	4,763,918 (GRCm39)	critical splice donor site	probably null
R2323:Anks3	UTSW	16	4,768,634 (GRCm39)	critical splice acceptor site	probably null
R3916:Anks3	UTSW	16	4,765,143 (GRCm39)	missense	probably damaging	0.97
R5597:Anks3	UTSW	16	4,771,793 (GRCm39)	missense	possibly damaging	0.93
R5993:Anks3	UTSW	16	4,776,001 (GRCm39)	missense	probably damaging	1.00
R7345:Anks3	UTSW	16	4,773,774 (GRCm39)	missense	possibly damaging	0.88
R8710:Anks3	UTSW	16	4,775,976 (GRCm39)	nonsense	probably null
R9629:Anks3	UTSW	16	4,775,565 (GRCm39)	missense	probably damaging	0.99
R9691:Anks3	UTSW	16	4,759,840 (GRCm39)	missense	probably benign	0.00
R9698:Anks3	UTSW	16	4,766,113 (GRCm39)	missense	probably benign
Z1176:Anks3	UTSW	16	4,768,578 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CGAGTATCAGAGAAAATGTACTGCC -3'
(R):5'- TTCTAAGTGCACGAGAGCCTG -3'

Sequencing Primer
(F):5'- CCATCAAGCCTATGGTGATCTGAG -3'
(R):5'- ACGAGAGCCTGGGCCTG -3'

Posted On

2019-09-13