Mutagenetix > Incidental Mutation

Incidental Mutation 'R1604:Anks3'

176364

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

039641-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4759300-4782069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4766117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 151 (V151M)

Ref Sequence

ENSEMBL: ENSMUSP00000155720 (fasta)

Gene Model

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

AlphaFold

Q9CZK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023157
AA Change: V326M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: V326M

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 damaging
Transcript: ENSMUST00000229017
AA Change: V151M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000229272
AA Change: V30M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229477

Predicted Effect

probably damaging
Transcript: ENSMUST00000229765
AA Change: V326M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230466

Predicted Effect

probably benign
Transcript: ENSMUST00000231036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230493

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,405 (GRCm39)	D110G	probably damaging	Het
Angptl2	T	C	2: 33,133,785 (GRCm39)	M369T	possibly damaging	Het
Arl6ip6	T	C	2: 53,082,508 (GRCm39)	L125P	probably damaging	Het
Bmp1	T	C	14: 70,745,444 (GRCm39)	Q247R	possibly damaging	Het
Ccdc30	A	G	4: 119,188,793 (GRCm39)	I491T	probably damaging	Het
Cdhr1	T	A	14: 36,817,050 (GRCm39)	I104F	probably benign	Het
Cdk17	G	T	10: 93,068,360 (GRCm39)	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,058,787 (GRCm39)	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,035,487 (GRCm39)	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,697,369 (GRCm39)	N244D	probably damaging	Het
Dop1b	G	T	16: 93,559,458 (GRCm39)	V617F	probably benign	Het
Erbb4	G	T	1: 68,385,728 (GRCm39)	A287E	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gad2	T	C	2: 22,513,852 (GRCm39)		probably null	Het
Gm17421	G	A	12: 113,333,155 (GRCm39)		noncoding transcript	Het
Gm9894	T	A	13: 67,913,008 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,700 (GRCm39)	S193P	probably damaging	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Hdgf	T	A	3: 87,821,347 (GRCm39)		probably null	Het
Itgb8	A	T	12: 119,166,265 (GRCm39)	L89M	probably damaging	Het
Lnx2	T	C	5: 146,966,135 (GRCm39)	D328G	probably benign	Het
Lrguk	A	G	6: 34,049,305 (GRCm39)	T341A	possibly damaging	Het
Map1b	A	G	13: 99,566,080 (GRCm39)	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804 (GRCm39)	F131L	probably damaging	Het
Msmo1	A	G	8: 65,180,689 (GRCm39)	I75T	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or2a56	G	A	6: 42,932,650 (GRCm39)	A73T	possibly damaging	Het
Or51k1	G	T	7: 103,661,162 (GRCm39)	A249E	probably damaging	Het
Or8c13	A	G	9: 38,091,645 (GRCm39)	V158A	probably benign	Het
Or8d2	T	G	9: 38,760,000 (GRCm39)	F197V	probably benign	Het
Pkhd1l1	C	T	15: 44,330,763 (GRCm39)	R113*	probably null	Het
Polr2m	T	C	9: 71,390,959 (GRCm39)	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,060,287 (GRCm39)	M268K	probably benign	Het
Ptprcap	T	A	19: 4,206,073 (GRCm39)	L52*	probably null	Het
Rasgrp2	C	T	19: 6,457,087 (GRCm39)	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,831,310 (GRCm39)	N286D	probably damaging	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Scrib	A	C	15: 75,920,089 (GRCm39)	S1557A	probably damaging	Het
Sergef	C	A	7: 46,092,783 (GRCm39)	V409L	probably benign	Het
Shisal1	T	C	15: 84,290,672 (GRCm39)	M212V	probably benign	Het
Slc6a13	A	G	6: 121,309,328 (GRCm39)	M280V	probably benign	Het
Slc9a8	C	T	2: 167,313,352 (GRCm39)	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Spc25	T	C	2: 69,035,498 (GRCm39)	D4G	probably damaging	Het
Specc1	C	T	11: 61,933,883 (GRCm39)	R88C	probably damaging	Het
Srsf11	C	T	3: 157,724,948 (GRCm39)		probably null	Het
Stt3b	T	C	9: 115,079,995 (GRCm39)	E639G	probably damaging	Het
Sult3a1	A	C	10: 33,742,616 (GRCm39)	E81A	probably damaging	Het
Taf1b	G	A	12: 24,606,623 (GRCm39)	G481D	probably benign	Het
Tgm4	T	C	9: 122,874,129 (GRCm39)	V123A	probably benign	Het
Tie1	G	T	4: 118,331,604 (GRCm39)	H973N	probably damaging	Het
Tmem117	C	T	15: 94,992,425 (GRCm39)	R362W	probably damaging	Het
Txnip	A	T	3: 96,466,277 (GRCm39)	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vcan	A	G	13: 89,837,780 (GRCm39)	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,564,245 (GRCm39)	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709 (GRCm39)	V193A	probably benign	Het
Zcchc8	C	T	5: 123,838,721 (GRCm39)	A606T	probably benign	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,830,949 (GRCm39)	D352G	probably damaging	Het
Zfp784	A	G	7: 5,039,453 (GRCm39)		probably benign	Het
Zfp940	A	T	7: 29,545,500 (GRCm39)	F136I	probably benign	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
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
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'- TTGAGTACTGTGTGCCTCATCAACC -3'
(R):5'- CGCTCATGTCCCGTGATGTACAAG -3'

Sequencing Primer
(F):5'- CTGTGGGACCTCCAGAATC -3'
(R):5'- CCATGTTACTATGCAAGGAGATG -3'

Posted On

2014-04-24