Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01593:Ankib1'

91637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

3740000-3852925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3782590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 346 (D346E)

Ref Sequence

ENSEMBL: ENSMUSP00000040946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]

AlphaFold

Q6ZPS6

Predicted Effect

probably benign
Transcript: ENSMUST00000043551
AA Change: D346E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: D346E

Domain	Start	End	E-Value	Type
ANK	45	75	7.08e-1	SMART
ANK	145	174	2.32e-5	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	9.73e-2	SMART
IBR	403	479	8.72e-12	SMART
IBR	502	566	2.59e-5	SMART
RING	520	644	2.36e0	SMART
low complexity region	764	773	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
UIM	846	865	3.62e-1	SMART
low complexity region	905	917	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199763

Predicted Effect

probably benign
Transcript: ENSMUST00000200335
AA Change: D346E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: D346E

Domain	Start	End	E-Value	Type
ANK	45	75	4.5e-3	SMART
ANK	145	174	1.4e-7	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	4.6e-4	SMART
IBR	403	479	2.9e-14	SMART
IBR	502	566	8.3e-8	SMART
RING	520	644	1.1e-2	SMART
low complexity region	768	779	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,279 (GRCm39)	I310N	probably damaging	Het
Abtb3	T	A	10: 85,490,339 (GRCm39)		probably benign	Het
Ackr4	C	T	9: 103,963,130 (GRCm39)		probably benign	Het
Asap2	G	T	12: 21,263,203 (GRCm39)	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436 (GRCm39)	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,727 (GRCm39)	F224I	probably damaging	Het
Bnc2	T	C	4: 84,194,478 (GRCm39)		probably null	Het
Cd33	A	G	7: 43,179,705 (GRCm39)	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,769,474 (GRCm39)		probably null	Het
Dym	C	T	18: 75,247,852 (GRCm39)		probably benign	Het
Enpp5	A	G	17: 44,391,612 (GRCm39)	T14A	probably benign	Het
Ggt1	T	C	10: 75,421,121 (GRCm39)		probably null	Het
Gm17541	T	A	12: 4,739,868 (GRCm39)		probably benign	Het
Gpr39	A	T	1: 125,605,188 (GRCm39)	I39F	probably benign	Het
Kcnb1	G	T	2: 166,948,127 (GRCm39)	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,788,766 (GRCm39)	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,694,125 (GRCm39)	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,163,483 (GRCm39)	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,528,723 (GRCm39)		probably null	Het
Nckap1	A	T	2: 80,350,914 (GRCm39)	M725K	probably benign	Het
Odad2	T	C	18: 7,127,345 (GRCm39)	K956R	probably benign	Het
Or2b7	T	A	13: 21,739,389 (GRCm39)	I268F	probably damaging	Het
Pole2	C	T	12: 69,269,873 (GRCm39)		probably null	Het
Prss32	A	G	17: 24,074,982 (GRCm39)	T111A	probably benign	Het
Rgs9	A	G	11: 109,139,875 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,835,654 (GRCm39)	C361R	probably damaging	Het
Ston1	G	A	17: 88,944,438 (GRCm39)	G615R	probably null	Het
Tas2r139	T	G	6: 42,117,891 (GRCm39)	W8G	probably benign	Het
Tmem101	A	T	11: 102,046,704 (GRCm39)	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,646,666 (GRCm39)		probably null	Het
Uba2	A	G	7: 33,845,689 (GRCm39)	V478A	probably damaging	Het
Vps13a	T	C	19: 16,739,545 (GRCm39)	D52G	probably damaging	Het

Other mutations in Ankib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Ankib1	APN	5	3,777,573 (GRCm39)	missense	probably benign	0.20
IGL01329:Ankib1	APN	5	3,784,194 (GRCm39)	splice site	probably benign
IGL01372:Ankib1	APN	5	3,822,594 (GRCm39)	missense	probably damaging	1.00
IGL01613:Ankib1	APN	5	3,763,146 (GRCm39)	nonsense	probably null
IGL01728:Ankib1	APN	5	3,751,992 (GRCm39)	splice site	probably benign
IGL01782:Ankib1	APN	5	3,777,607 (GRCm39)	missense	probably damaging	1.00
IGL01878:Ankib1	APN	5	3,784,152 (GRCm39)	missense	possibly damaging	0.69
IGL02730:Ankib1	APN	5	3,752,995 (GRCm39)	missense	probably damaging	1.00
IGL02742:Ankib1	APN	5	3,743,479 (GRCm39)	missense	probably benign	0.04
IGL02873:Ankib1	APN	5	3,822,619 (GRCm39)	missense	probably damaging	1.00
R0033:Ankib1	UTSW	5	3,819,588 (GRCm39)	missense	possibly damaging	0.52
R0242:Ankib1	UTSW	5	3,750,344 (GRCm39)	splice site	probably benign
R0564:Ankib1	UTSW	5	3,779,655 (GRCm39)	missense	probably damaging	0.99
R0632:Ankib1	UTSW	5	3,822,529 (GRCm39)	missense	probably benign	0.02
R0732:Ankib1	UTSW	5	3,763,163 (GRCm39)	missense	possibly damaging	0.89
R1678:Ankib1	UTSW	5	3,756,301 (GRCm39)	missense	probably damaging	0.99
R1816:Ankib1	UTSW	5	3,784,028 (GRCm39)	missense	probably benign	0.05
R2165:Ankib1	UTSW	5	3,763,210 (GRCm39)	missense	possibly damaging	0.69
R3434:Ankib1	UTSW	5	3,742,760 (GRCm39)	missense	probably damaging	1.00
R3749:Ankib1	UTSW	5	3,784,097 (GRCm39)	missense	probably damaging	0.98
R4745:Ankib1	UTSW	5	3,782,566 (GRCm39)	missense	probably damaging	1.00
R4827:Ankib1	UTSW	5	3,751,907 (GRCm39)	missense	probably damaging	1.00
R4983:Ankib1	UTSW	5	3,819,652 (GRCm39)	missense	probably benign	0.09
R4989:Ankib1	UTSW	5	3,763,217 (GRCm39)	missense	probably damaging	0.99
R5022:Ankib1	UTSW	5	3,784,011 (GRCm39)	missense	possibly damaging	0.96
R5057:Ankib1	UTSW	5	3,784,011 (GRCm39)	missense	possibly damaging	0.96
R5510:Ankib1	UTSW	5	3,779,693 (GRCm39)	missense	probably benign	0.02
R5606:Ankib1	UTSW	5	3,751,907 (GRCm39)	missense	probably damaging	1.00
R5910:Ankib1	UTSW	5	3,743,217 (GRCm39)	missense	probably benign
R5929:Ankib1	UTSW	5	3,819,633 (GRCm39)	missense	possibly damaging	0.86
R5986:Ankib1	UTSW	5	3,797,071 (GRCm39)	missense	probably damaging	1.00
R6281:Ankib1	UTSW	5	3,751,965 (GRCm39)	missense	possibly damaging	0.70
R6336:Ankib1	UTSW	5	3,750,377 (GRCm39)	nonsense	probably null
R6377:Ankib1	UTSW	5	3,743,855 (GRCm39)	missense	possibly damaging	0.78
R7001:Ankib1	UTSW	5	3,744,781 (GRCm39)	missense	probably benign
R7264:Ankib1	UTSW	5	3,805,739 (GRCm39)	missense	probably damaging	1.00
R7380:Ankib1	UTSW	5	3,772,576 (GRCm39)	missense	probably benign	0.03
R7402:Ankib1	UTSW	5	3,819,586 (GRCm39)	missense	probably benign	0.01
R7491:Ankib1	UTSW	5	3,751,911 (GRCm39)	missense	probably damaging	1.00
R7525:Ankib1	UTSW	5	3,805,734 (GRCm39)	missense	possibly damaging	0.95
R7562:Ankib1	UTSW	5	3,797,021 (GRCm39)	missense	probably null	1.00
R8116:Ankib1	UTSW	5	3,752,995 (GRCm39)	missense	probably damaging	1.00
R8347:Ankib1	UTSW	5	3,797,065 (GRCm39)	missense	probably damaging	1.00
R8712:Ankib1	UTSW	5	3,822,643 (GRCm39)	missense	probably benign	0.03
R8750:Ankib1	UTSW	5	3,752,890 (GRCm39)	critical splice donor site	probably null
R8854:Ankib1	UTSW	5	3,777,489 (GRCm39)	missense	probably null	0.97
R9032:Ankib1	UTSW	5	3,819,641 (GRCm39)	missense	probably benign	0.16
R9180:Ankib1	UTSW	5	3,756,276 (GRCm39)	missense	probably damaging	1.00
R9325:Ankib1	UTSW	5	3,822,523 (GRCm39)	missense	possibly damaging	0.81
R9474:Ankib1	UTSW	5	3,805,617 (GRCm39)	missense	probably damaging	0.98
R9504:Ankib1	UTSW	5	3,763,235 (GRCm39)	missense	probably benign
R9564:Ankib1	UTSW	5	3,805,733 (GRCm39)	missense	possibly damaging	0.87
Z1088:Ankib1	UTSW	5	3,763,137 (GRCm39)	nonsense	probably null
Z1088:Ankib1	UTSW	5	3,763,136 (GRCm39)	missense	probably damaging	1.00
Z1176:Ankib1	UTSW	5	3,742,763 (GRCm39)	missense	probably benign

Posted On

2013-12-09