Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Anks3'

729453

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4759300-4782069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4766113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 327 (E327G)

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: E327G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: E327G

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: E152G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000229765
AA Change: E327G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231036

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	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
R7373:Anks3	UTSW	16	4,773,735 (GRCm39)	missense	probably benign	0.00
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
Z1176:Anks3	UTSW	16	4,768,578 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CTGTGTGCCTCATCAACCTG -3'
(R):5'- TGGCCATGTTACTATGCAAGGAG -3'

Sequencing Primer
(F):5'- TGCCTCATCAACCTGTGGGAC -3'
(R):5'- CCCTCAAACTCTTAAGAGGGGTG -3'

Posted On

2022-10-06