Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01830:Anks4b'

154749

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 #

IGL01830

Quality Score

Status

Chromosome

Chromosomal Location

119773081-119782939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119773219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 26 (N26K)

Ref Sequence

ENSEMBL: ENSMUSP00000033201 (fasta)

Gene Model

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

AlphaFold

Q8K3X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000033201
AA Change: N26K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: N26K

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	C	A	16: 22,717,779 (GRCm39)	P252Q	probably damaging	Het
Arrdc5	C	T	17: 56,601,652 (GRCm39)	V158I	probably damaging	Het
Catsper2	T	C	2: 121,237,843 (GRCm39)	D179G	probably damaging	Het
Cd44	T	C	2: 102,672,603 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,888,925 (GRCm39)	D231E	possibly damaging	Het
Cep57l1	C	T	10: 41,604,649 (GRCm39)	C160Y	probably benign	Het
Chek2	T	A	5: 111,021,374 (GRCm39)	L528Q	probably benign	Het
Ciita	T	C	16: 10,338,915 (GRCm39)	L973P	probably damaging	Het
Dock2	A	T	11: 34,582,744 (GRCm39)	L637*	probably null	Het
Fsip2	A	C	2: 82,815,273 (GRCm39)	I3669L	probably benign	Het
Gapvd1	A	G	2: 34,578,968 (GRCm39)	V1218A	probably benign	Het
Gip	T	C	11: 95,919,550 (GRCm39)	L91S	possibly damaging	Het
Gp2	T	C	7: 119,050,765 (GRCm39)	D322G	probably damaging	Het
Ift172	A	G	5: 31,442,636 (GRCm39)	V177A	probably damaging	Het
Kng2	T	C	16: 22,806,801 (GRCm39)	D466G	probably damaging	Het
Lpar5	G	A	6: 125,058,785 (GRCm39)	A169T	probably benign	Het
Med13	C	T	11: 86,179,754 (GRCm39)		probably benign	Het
Meiob	T	A	17: 25,054,105 (GRCm39)	C391S	probably benign	Het
Mgat5	A	G	1: 127,339,869 (GRCm39)	T417A	probably damaging	Het
Myo1b	A	T	1: 51,836,624 (GRCm39)	L279*	probably null	Het
Myo1g	T	A	11: 6,464,522 (GRCm39)	K513*	probably null	Het
Nxpe2	A	T	9: 48,237,794 (GRCm39)	S154T	probably damaging	Het
Ogn	C	T	13: 49,762,723 (GRCm39)	Q22*	probably null	Het
Or4c12	A	G	2: 89,773,775 (GRCm39)	L228S	probably benign	Het
Pacs2	A	T	12: 113,020,574 (GRCm39)	K316*	probably null	Het
Pelo	T	A	13: 115,225,131 (GRCm39)	I365F	probably damaging	Het
Phf3	G	A	1: 30,853,148 (GRCm39)	Q1021*	probably null	Het
Pik3r4	A	G	9: 105,522,154 (GRCm39)	D240G	probably damaging	Het
Pknox1	T	C	17: 31,814,284 (GRCm39)	M203T	probably benign	Het
Pld1	T	C	3: 28,102,153 (GRCm39)		probably benign	Het
Rabgef1	G	T	5: 130,240,907 (GRCm39)	C342F	possibly damaging	Het
Rbm19	A	C	5: 120,262,760 (GRCm39)	K307T	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,494 (GRCm39)	I289N	probably damaging	Het
Slc5a12	G	A	2: 110,428,151 (GRCm39)	G69R	probably damaging	Het
Spag1	C	A	15: 36,221,705 (GRCm39)	S599R	probably benign	Het
Ubr4	A	T	4: 139,199,811 (GRCm39)	D4565V	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn1r225	T	C	17: 20,722,717 (GRCm39)	S53P	probably damaging	Het
Xrcc1	T	A	7: 24,272,767 (GRCm39)		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
IGL02490:Anks4b	APN	7	119,773,241 (GRCm39)	missense	probably damaging	1.00
IGL02820:Anks4b	APN	7	119,781,914 (GRCm39)	unclassified	probably benign
IGL03074:Anks4b	APN	7	119,781,140 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04