Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02490:Anks4b'

295593

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 #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

119773081-119782939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119773241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 34 (T34A)

Ref Sequence

ENSEMBL: ENSMUSP00000033201 (fasta)

Gene Model

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

AlphaFold

Q8K3X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000033201
AA Change: T34A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: T34A

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,078,559 (GRCm39)		noncoding transcript	Het
Adam5	A	T	8: 25,271,720 (GRCm39)	Y562*	probably null	Het
Akr1d1	T	C	6: 37,535,423 (GRCm39)	V269A	probably damaging	Het
Arhgef40	A	G	14: 52,226,652 (GRCm39)	N232S	probably damaging	Het
Cdc40	C	T	10: 40,717,767 (GRCm39)	V379I	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh13	A	G	8: 119,822,062 (GRCm39)	D307G	probably damaging	Het
Ces1h	A	G	8: 94,083,627 (GRCm39)		probably null	Het
Chchd6	T	A	6: 89,361,656 (GRCm39)	H249L	possibly damaging	Het
Clxn	T	A	16: 14,734,810 (GRCm39)	V60E	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Cwc15	A	T	9: 14,413,320 (GRCm39)	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,527,446 (GRCm39)	I264T	probably damaging	Het
Dapk1	A	G	13: 60,897,148 (GRCm39)	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,291,635 (GRCm39)	Y207N	probably damaging	Het
Flt3	T	A	5: 147,268,106 (GRCm39)	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,359,817 (GRCm39)		probably benign	Het
Foxm1	T	A	6: 128,350,314 (GRCm39)	C400*	probably null	Het
Ftmt	A	C	18: 52,464,760 (GRCm39)	R25S	probably benign	Het
Guca1b	T	C	17: 47,700,190 (GRCm39)		probably benign	Het
Hectd4	A	T	5: 121,456,676 (GRCm39)	K680N	possibly damaging	Het
Hephl1	C	A	9: 14,964,981 (GRCm39)	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,395,972 (GRCm39)		probably benign	Het
Ints2	A	T	11: 86,124,009 (GRCm39)	I593K	possibly damaging	Het
Iqcg	T	A	16: 32,855,937 (GRCm39)	K213*	probably null	Het
Kif1b	T	A	4: 149,288,665 (GRCm39)	S1259C	probably benign	Het
Klc1	C	T	12: 111,748,210 (GRCm39)	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,593,269 (GRCm39)	T301A	probably benign	Het
Lrrc40	T	C	3: 157,768,336 (GRCm39)	L497P	probably damaging	Het
Masp2	C	T	4: 148,692,400 (GRCm39)	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,043,737 (GRCm39)	Y242F	probably damaging	Het
Nup98	A	G	7: 101,801,573 (GRCm39)	V784A	probably damaging	Het
Or5w15	T	C	2: 87,568,299 (GRCm39)	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 13,015,341 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,334,922 (GRCm39)	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,628,589 (GRCm39)	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,550,241 (GRCm39)	N172D	probably damaging	Het
Plec	T	C	15: 76,073,463 (GRCm39)	Y517C	probably damaging	Het
Plod2	G	T	9: 92,468,895 (GRCm39)	A207S	probably benign	Het
Plxdc1	A	T	11: 97,845,604 (GRCm39)	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,581,726 (GRCm39)		probably null	Het
Procr	T	C	2: 155,595,352 (GRCm39)	L52P	probably damaging	Het
Psme2b	G	T	11: 48,836,946 (GRCm39)		probably benign	Het
Rgs22	G	A	15: 36,054,993 (GRCm39)	A727V	probably damaging	Het
Rock2	T	A	12: 16,998,564 (GRCm39)	W277R	probably damaging	Het
Rpl26	A	G	11: 68,795,216 (GRCm39)	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,559,474 (GRCm39)		probably null	Het
Sdr39u1	G	A	14: 56,135,798 (GRCm39)	P98L	probably damaging	Het
Sgms1	T	C	19: 32,137,543 (GRCm39)	K8E	probably damaging	Het
Stk31	T	C	6: 49,394,469 (GRCm39)	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,797,588 (GRCm39)	E79A	probably benign	Het
Ttll6	A	T	11: 96,047,546 (GRCm39)	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,542,561 (GRCm39)	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,761,246 (GRCm39)	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,594,360 (GRCm39)	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,611,250 (GRCm39)	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,590,819 (GRCm39)	Y288*	probably null	Het
Zfp993	T	C	4: 146,742,074 (GRCm39)	S133P	probably damaging	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
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

2015-04-16