Mutagenetix > Incidental Mutation

Incidental Mutation 'R3079:Anks4b'

265334

Institutional Source

Beutler Lab

Gene Symbol

Anks4b

Ensembl Gene

ENSMUSG00000030909

Gene Name

ankyrin repeat and sterile alpha motif domain containing 4B

Synonyms

2010013E14Rik, Harp

MMRRC Submission

040569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119773081-119782939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119781146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 59 (D59V)

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: D59V

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

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: D59V

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,879 (GRCm39)	L168H	probably damaging	Het
Abca15	T	C	7: 119,984,392 (GRCm39)	W1158R	probably damaging	Het
Aqp11	A	T	7: 97,386,795 (GRCm39)	C134S	probably benign	Het
Arhgap35	A	G	7: 16,296,501 (GRCm39)	Y855H	probably damaging	Het
Ces1c	A	C	8: 93,846,975 (GRCm39)	L93R	probably damaging	Het
Cit	A	G	5: 116,063,545 (GRCm39)	D462G	probably damaging	Het
Col6a6	T	C	9: 105,631,422 (GRCm39)	R1494G	probably benign	Het
Edc4	T	C	8: 106,611,750 (GRCm39)	S109P	possibly damaging	Het
Elp4	T	C	2: 105,639,790 (GRCm39)	K130E	possibly damaging	Het
Gemin5	A	T	11: 58,036,345 (GRCm39)	V666E	probably damaging	Het
Hba-x	A	G	11: 32,227,616 (GRCm39)	D62G	probably damaging	Het
Hnrnpul1	A	T	7: 25,432,540 (GRCm39)	Y474*	probably null	Het
Ighv5-6	T	A	12: 113,589,237 (GRCm39)	D81V	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Mbtps1	A	G	8: 120,257,944 (GRCm39)	V431A	probably benign	Het
Mbtps1	T	C	8: 120,265,602 (GRCm39)	D315G	probably damaging	Het
Mrc2	T	C	11: 105,227,539 (GRCm39)	S591P	probably damaging	Het
Msh5	T	C	17: 35,265,208 (GRCm39)	E48G	probably benign	Het
Mybpc2	T	C	7: 44,155,505 (GRCm39)	D916G	probably damaging	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,794 (GRCm39)	R236G	probably benign	Het
Obsl1	G	T	1: 75,467,467 (GRCm39)	R1436S	probably damaging	Het
Or14j4	T	C	17: 37,921,169 (GRCm39)	T158A	probably benign	Het
Or51a7	C	T	7: 102,622,254 (GRCm39)		probably null	Het
Padi2	T	C	4: 140,677,189 (GRCm39)	V659A	probably damaging	Het
Pnpla6	T	G	8: 3,591,512 (GRCm39)	S1169A	probably benign	Het
Pramel30	T	G	4: 144,058,098 (GRCm39)	L235R	probably damaging	Het
Prl6a1	A	G	13: 27,502,983 (GRCm39)	D193G	possibly damaging	Het
Rce1	G	T	19: 4,674,750 (GRCm39)	C138*	probably null	Het
Shoc1	G	T	4: 59,047,848 (GRCm39)	T1257N	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint2	A	G	4: 112,496,870 (GRCm39)	T259A	probably benign	Het
Slc66a1	G	T	4: 139,033,829 (GRCm39)	A30D	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Slfn1	T	C	11: 83,011,986 (GRCm39)	V34A	probably benign	Het
Syt4	A	G	18: 31,574,738 (GRCm39)	V293A	probably benign	Het
Trh	T	C	6: 92,219,551 (GRCm39)	E255G	possibly damaging	Het
Ube4a	G	T	9: 44,871,371 (GRCm39)	N9K	probably damaging	Het
Uck1	A	T	2: 32,148,089 (GRCm39)		probably benign	Het
Vmn1r222	A	G	13: 23,416,631 (GRCm39)	M194T	possibly damaging	Het
Vmn2r91	T	G	17: 18,355,973 (GRCm39)		probably null	Het
Wbp2	C	T	11: 115,970,534 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,346,636 (GRCm39)	I1672V	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTAGTCTGAAGTTACACATGTC -3'
(R):5'- AGAGCAACACATTCTTTCTGC -3'

Sequencing Primer
(F):5'- CAATCTCTACATCCAGTGAGGTG -3'
(R):5'- TGCTCCCTACTAGCAGCAG -3'

Posted On

2015-02-05