Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Ankrd55'

104421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd55

Ensembl Gene

ENSMUSG00000049985

Gene Name

ankyrin repeat domain 55

Synonyms

C030011J08Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

112288451-112384002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112381168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 556 (I556T)

Ref Sequence

ENSEMBL: ENSMUSP00000022275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000165593]

AlphaFold

Q8BLD6

Predicted Effect

probably benign
Transcript: ENSMUST00000022275
AA Change: I556T

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: I556T

Domain	Start	End	E-Value	Type
Blast:ANK	25	54	1e-9	BLAST
ANK	59	88	7.64e-6	SMART
ANK	92	121	4.18e2	SMART
ANK	125	156	4.86e1	SMART
ANK	160	189	5.32e-5	SMART
ANK	193	222	7.59e-1	SMART
ANK	229	257	2.97e2	SMART
ANK	263	292	5.71e-5	SMART
ANK	296	326	1.63e0	SMART
low complexity region	528	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165593
AA Change: I528T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: I528T

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	8e-8	BLAST
ANK	31	60	7.64e-6	SMART
ANK	64	93	4.18e2	SMART
ANK	97	128	4.86e1	SMART
ANK	132	161	5.32e-5	SMART
ANK	165	194	7.59e-1	SMART
ANK	201	229	2.97e2	SMART
ANK	235	264	5.71e-5	SMART
ANK	268	298	1.63e0	SMART
low complexity region	500	515	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Ankrd55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ankrd55	APN	13	112367794	missense	probably benign	0.01
IGL01372:Ankrd55	APN	13	112323143	missense	probably damaging	1.00
IGL01554:Ankrd55	APN	13	112323067	missense	possibly damaging	0.87
IGL02366:Ankrd55	APN	13	112318460	missense	probably damaging	1.00
IGL03368:Ankrd55	APN	13	112318556	splice site	probably benign
crescat	UTSW	13	112348863	critical splice donor site	probably null
Scientiam	UTSW	13	112355963	missense	probably damaging	0.99
I0000:Ankrd55	UTSW	13	112348725	splice site	probably benign
R0547:Ankrd55	UTSW	13	112368223	missense	probably benign	0.03
R0781:Ankrd55	UTSW	13	112381233	splice site	probably benign
R0981:Ankrd55	UTSW	13	112323076	missense	possibly damaging	0.78
R1072:Ankrd55	UTSW	13	112348842	missense	possibly damaging	0.83
R1469:Ankrd55	UTSW	13	112367926	missense	probably benign	0.39
R1469:Ankrd55	UTSW	13	112367926	missense	probably benign	0.39
R2187:Ankrd55	UTSW	13	112383505	missense	probably benign	0.01
R4430:Ankrd55	UTSW	13	112323183	critical splice donor site	probably null
R4753:Ankrd55	UTSW	13	112363475	missense	probably benign
R4846:Ankrd55	UTSW	13	112363454	missense	probably benign	0.00
R4911:Ankrd55	UTSW	13	112323039	splice site	probably null
R4996:Ankrd55	UTSW	13	112356088	missense	possibly damaging	0.68
R5007:Ankrd55	UTSW	13	112367932	missense	probably benign
R5077:Ankrd55	UTSW	13	112355988	missense	probably benign	0.19
R5118:Ankrd55	UTSW	13	112355939	missense	probably benign	0.00
R5350:Ankrd55	UTSW	13	112336226	missense	probably damaging	1.00
R5367:Ankrd55	UTSW	13	112318502	missense	probably damaging	1.00
R5560:Ankrd55	UTSW	13	112383490	missense	probably benign
R5888:Ankrd55	UTSW	13	112355919	missense	possibly damaging	0.62
R6130:Ankrd55	UTSW	13	112318446	missense	probably damaging	1.00
R6589:Ankrd55	UTSW	13	112348863	critical splice donor site	probably null
R6994:Ankrd55	UTSW	13	112368300	missense	probably benign	0.42
R7100:Ankrd55	UTSW	13	112356110	missense	probably benign	0.00
R7247:Ankrd55	UTSW	13	112336253	missense	probably damaging	0.97
R7340:Ankrd55	UTSW	13	112355963	missense	probably damaging	0.99
R7694:Ankrd55	UTSW	13	112367964	missense	probably damaging	1.00
R8053:Ankrd55	UTSW	13	112323153	missense	probably damaging	1.00
R8282:Ankrd55	UTSW	13	112323041	splice site	probably benign
R8529:Ankrd55	UTSW	13	112344136	missense	probably benign	0.05
R9059:Ankrd55	UTSW	13	112318539	missense	probably damaging	1.00
R9176:Ankrd55	UTSW	13	112323076	missense	possibly damaging	0.78
R9189:Ankrd55	UTSW	13	112368036	missense	probably damaging	1.00
R9332:Ankrd55	UTSW	13	112323143	missense	probably damaging	1.00

Posted On

2014-01-21