Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03074:Anks4b'

417624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anks4b

Ensembl Gene

ENSMUSG00000030909

Gene Name

ankyrin repeat and sterile alpha motif domain containing 4B

Synonyms

2010013E14Rik, Harp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03074

Quality Score

Status

Chromosome

Chromosomal Location

119773081-119782939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119781140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 57 (D57V)

Ref Sequence

ENSEMBL: ENSMUSP00000033201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033198] [ENSMUST00000033201]

AlphaFold

Q8K3X6

Predicted Effect

probably benign
Transcript: ENSMUST00000033198

SMART Domains

Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905

Domain	Start	End	E-Value	Type
Pfam:OCD_Mu_crystall	3	313	7.1e-113	PFAM
Pfam:Shikimate_DH	124	227	7.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000033201
AA Change: D57V

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

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: D57V

Domain	Start	End	E-Value	Type
ANK	31	60	1.03e-2	SMART
ANK	64	93	6.3e-7	SMART
ANK	97	126	3.69e2	SMART
coiled coil region	131	165	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
coiled coil region	303	335	N/A	INTRINSIC
SAM	346	411	6.52e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,201,101 (GRCm39)	Y433F	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Brwd1	A	G	16: 95,813,050 (GRCm39)	V1486A	probably benign	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Dmtf1	T	C	5: 9,174,435 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,403 (GRCm39)	L196Q	probably damaging	Het
Dock9	A	G	14: 121,844,682 (GRCm39)	L1097P	possibly damaging	Het
Dtna	T	C	18: 23,735,662 (GRCm39)	V339A	possibly damaging	Het
Dysf	T	A	6: 84,165,208 (GRCm39)	S1646T	probably benign	Het
Ermp1	A	T	19: 29,589,935 (GRCm39)	Y893N	probably damaging	Het
Etv6	A	T	6: 134,199,888 (GRCm39)	N76I	probably damaging	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fgf21	T	C	7: 45,263,605 (GRCm39)	T158A	probably benign	Het
Gcm1	T	C	9: 77,972,057 (GRCm39)	S333P	possibly damaging	Het
Grm7	T	A	6: 111,472,604 (GRCm39)		probably null	Het
Itgae	T	C	11: 73,016,136 (GRCm39)	F782L	probably benign	Het
Kbtbd8	A	G	6: 95,099,333 (GRCm39)	T204A	probably damaging	Het
Kcp	A	G	6: 29,496,630 (GRCm39)	C627R	probably damaging	Het
Loxhd1	T	C	18: 77,529,480 (GRCm39)	V2041A	possibly damaging	Het
Mcm5	T	C	8: 75,845,929 (GRCm39)	M379T	possibly damaging	Het
Mcu	A	G	10: 59,303,580 (GRCm39)	S86P	probably damaging	Het
Naa25	T	C	5: 121,546,400 (GRCm39)		probably null	Het
Or10ag59	T	A	2: 87,405,680 (GRCm39)	L84H	possibly damaging	Het
Or5b117	A	G	19: 13,431,417 (GRCm39)	S155P	probably damaging	Het
Osbpl9	T	C	4: 108,929,158 (GRCm39)	H400R	probably damaging	Het
Pip5kl1	A	G	2: 32,470,353 (GRCm39)	N278D	probably damaging	Het
Ppp1r12b	T	C	1: 134,763,758 (GRCm39)	T759A	probably benign	Het
Psg27	T	C	7: 18,294,454 (GRCm39)	T318A	probably benign	Het
Rtkn2	T	G	10: 67,877,551 (GRCm39)	L537R	probably damaging	Het
Sdr39u1	C	T	14: 56,137,103 (GRCm39)		probably null	Het
Slc38a1	A	T	15: 96,490,405 (GRCm39)	I124N	possibly damaging	Het
Sumf2	T	A	5: 129,888,674 (GRCm39)		probably benign	Het
Thsd7a	A	G	6: 12,324,680 (GRCm39)	Y1464H	probably damaging	Het
Unc80	C	T	1: 66,710,877 (GRCm39)		probably benign	Het
Zfp366	A	G	13: 99,382,913 (GRCm39)	D692G	probably benign	Het

Other mutations in Anks4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Anks4b	APN	7	119,773,148 (GRCm39)	missense	possibly damaging	0.69
IGL01830:Anks4b	APN	7	119,773,219 (GRCm39)	missense	probably damaging	1.00
IGL02490:Anks4b	APN	7	119,773,241 (GRCm39)	missense	probably damaging	1.00
IGL02820:Anks4b	APN	7	119,781,914 (GRCm39)	unclassified	probably benign
R0383:Anks4b	UTSW	7	119,782,097 (GRCm39)	missense	probably damaging	1.00
R0747:Anks4b	UTSW	7	119,781,386 (GRCm39)	missense	probably damaging	0.96
R1125:Anks4b	UTSW	7	119,781,580 (GRCm39)	missense	possibly damaging	0.66
R1192:Anks4b	UTSW	7	119,773,289 (GRCm39)	missense	probably benign	0.02
R3079:Anks4b	UTSW	7	119,781,146 (GRCm39)	missense	probably damaging	1.00
R3080:Anks4b	UTSW	7	119,781,146 (GRCm39)	missense	probably damaging	1.00
R5542:Anks4b	UTSW	7	119,781,646 (GRCm39)	nonsense	probably null
R5954:Anks4b	UTSW	7	119,781,396 (GRCm39)	missense	possibly damaging	0.92
R6001:Anks4b	UTSW	7	119,781,941 (GRCm39)	missense	probably benign	0.30
R6920:Anks4b	UTSW	7	119,782,231 (GRCm39)	missense	probably damaging	1.00
R7921:Anks4b	UTSW	7	119,781,992 (GRCm39)	missense	probably benign	0.12
R7946:Anks4b	UTSW	7	119,781,707 (GRCm39)	missense	probably benign	0.00
R7966:Anks4b	UTSW	7	119,781,923 (GRCm39)	missense	probably benign	0.00
R8755:Anks4b	UTSW	7	119,773,307 (GRCm39)	critical splice donor site	probably null
R9259:Anks4b	UTSW	7	119,773,278 (GRCm39)	missense	probably benign	0.04
Z1088:Anks4b	UTSW	7	119,781,742 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02