Mutagenetix > Incidental Mutations

Incidental Mutation 'R5901:Ankra2'

456341

Institutional Source

Beutler Lab

Gene Symbol

Ankra2

Ensembl Gene

ENSMUSG00000021661

Gene Name

ankyrin repeat, family A (RFXANK-like), 2

Synonyms

MMRRC Submission

043239-MU

Accession Numbers

Ncbi RefSeq: NM_001271388.1, NM_001271389.1, NM_001271390.1, NM_023472.2, NM_001271391.1, NM_001271392.1; MGI: 1915808

Is this an essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R5901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98263074-98274754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98271136 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 38 (E38G)

Ref Sequence

ENSEMBL: ENSMUSP00000153417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022164] [ENSMUST00000091356] [ENSMUST00000123924] [ENSMUST00000150352] [ENSMUST00000150916] [ENSMUST00000226100]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022164
AA Change: E198G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022164
Gene: ENSMUSG00000021661
AA Change: E198G

Domain	Start	End	E-Value	Type
ANK	180	209	1.45e-6	SMART
ANK	213	242	1.05e-3	SMART
ANK	246	275	1.76e-5	SMART
Blast:ANK	279	308	1e-7	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091356
AA Change: E38G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088915
Gene: ENSMUSG00000021661
AA Change: E38G

Domain	Start	End	E-Value	Type
ANK	20	49	1.45e-6	SMART
ANK	53	82	1.05e-3	SMART
ANK	86	115	1.76e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123924
AA Change: E198G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122701
Gene: ENSMUSG00000021661
AA Change: E198G

Domain	Start	End	E-Value	Type
ANK	180	209	1.45e-6	SMART
ANK	213	242	1.05e-3	SMART
ANK	246	275	1.76e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000150352
AA Change: E198G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117508
Gene: ENSMUSG00000021661
AA Change: E198G

Domain	Start	End	E-Value	Type
ANK	180	209	1.45e-6	SMART
ANK	213	242	1.05e-3	SMART
ANK	246	275	1.76e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150916
AA Change: E38G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116590
Gene: ENSMUSG00000021661
AA Change: E38G

Domain	Start	End	E-Value	Type
ANK	20	49	1.45e-6	SMART
ANK	53	82	1.05e-3	SMART
ANK	86	115	1.76e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223606

Predicted Effect

probably damaging
Transcript: ENSMUST00000226100
AA Change: E38G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	T	A	11: 99,837,337	S227C	unknown	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adamts15	C	T	9: 30,902,490	R793H	probably damaging	Het
Aqp8	G	A	7: 123,462,584	C8Y	probably damaging	Het
Atg9b	A	G	5: 24,392,019		probably benign	Het
Atp6v1b1	A	G	6: 83,758,357	E469G	possibly damaging	Het
B4gat1	T	A	19: 5,039,213	Y79*	probably null	Het
BB019430	T	A	10: 58,704,192		noncoding transcript	Het
Calhm3	T	C	19: 47,157,613	Y51C	probably damaging	Het
Ccr2	C	T	9: 124,106,202	T173I	possibly damaging	Het
Cfap43	T	C	19: 47,897,099	D359G	probably damaging	Het
Dopey2	A	G	16: 93,769,751	E1022G	possibly damaging	Het
Drd2	T	A	9: 49,406,959	C400*	probably null	Het
Efcab7	T	A	4: 99,909,744	H495Q	probably damaging	Het
Faim	T	C	9: 98,992,142	V29A	probably benign	Het
Fancd2	T	C	6: 113,549,365	S350P	probably damaging	Het
Fbxw16	T	C	9: 109,441,217	E152G	probably benign	Het
Kif17	T	C	4: 138,298,332		probably null	Het
Kif24	A	T	4: 41,428,604	S119T	probably damaging	Het
Ly6k	A	T	15: 74,798,580	S38T	probably benign	Het
Mapk10	A	G	5: 102,913,292	S430P	probably damaging	Het
Megf10	G	A	18: 57,277,108	A654T	probably benign	Het
Mlph	T	C	1: 90,939,814	L450P	probably damaging	Het
Otof	T	C	5: 30,374,979	D1603G	probably damaging	Het
Pdcd11	T	C	19: 47,128,332	S1580P	possibly damaging	Het
Rad54b	G	A	4: 11,595,919	R232H	possibly damaging	Het
Sar1b	C	T	11: 51,779,749	T40I	possibly damaging	Het
Scyl2	C	T	10: 89,660,262	S242N	probably benign	Het
Sema4b	A	G	7: 80,224,967	N702D	possibly damaging	Het
Slc16a11	A	G	11: 70,216,346	I394V	probably benign	Het
Stard9	A	C	2: 120,701,370	T2703P	probably damaging	Het
Stat5b	A	T	11: 100,804,907	L83Q	possibly damaging	Het
Tas2r119	T	A	15: 32,177,786	V166D	possibly damaging	Het
Tmem117	T	A	15: 94,714,958	I125N	probably benign	Het
Tmem39a	T	C	16: 38,573,206	I89T	probably benign	Het
Ubr4	T	A	4: 139,451,254	H3272Q	probably damaging	Het
Vmn1r7	T	C	6: 57,024,606	E223G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,588	V658A	probably damaging	Het
Xirp2	A	T	2: 67,513,066	T1884S	possibly damaging	Het
Xkr4	A	T	1: 3,216,678	F430I	probably damaging	Het
Yae1d1	A	G	13: 17,989,615	M1T	probably null	Het
Zfand4	T	C	6: 116,288,123	V183A	probably damaging	Het

Other mutations in Ankra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02168:Ankra2	APN	13	98273374	splice site	probably benign
IGL02807:Ankra2	APN	13	98271742	missense	probably damaging	1.00
IGL03030:Ankra2	APN	13	98273373	splice site	probably benign
R0068:Ankra2	UTSW	13	98273383	nonsense	probably null
R0068:Ankra2	UTSW	13	98273383	nonsense	probably null
R0302:Ankra2	UTSW	13	98271692	missense	probably damaging	1.00
R0499:Ankra2	UTSW	13	98266454	missense	probably damaging	1.00
R0729:Ankra2	UTSW	13	98271727	missense	probably damaging	1.00
R1848:Ankra2	UTSW	13	98271124	missense	probably damaging	1.00
R2185:Ankra2	UTSW	13	98266404	missense	probably damaging	0.99
R2230:Ankra2	UTSW	13	98271138	missense	probably damaging	0.99
R2232:Ankra2	UTSW	13	98271138	missense	probably damaging	0.99
R3898:Ankra2	UTSW	13	98273809	missense	probably benign	0.13
R4605:Ankra2	UTSW	13	98266234	intron	probably benign
R4855:Ankra2	UTSW	13	98273411	missense	probably damaging	1.00
R5806:Ankra2	UTSW	13	98268497	critical splice donor site	probably null
R6478:Ankra2	UTSW	13	98268442	missense	probably damaging	1.00
R7469:Ankra2	UTSW	13	98266374	missense	probably benign	0.01
Z1177:Ankra2	UTSW	13	98272277	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TCAGCAAACGAAATTCAGCCTG -3'
(R):5'- TTTCACGTGGGATTCCATTGC -3'

Sequencing Primer
(F):5'- AGCCTGTTGAACTTCACTGAG -3'
(R):5'- GGATTCCATTGCTTTCCTGGCTAG -3'

Posted On

2017-02-15