Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01021:Ankrd24'

53842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd24

Ensembl Gene

ENSMUSG00000054708

Gene Name

ankyrin repeat domain 24

Synonyms

4631433D01Rik, 5730519E19Rik, D10Bur2e

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

81628540-81647610 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 81635161 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119336] [ENSMUST00000123896] [ENSMUST00000123993] [ENSMUST00000126323] [ENSMUST00000140345] [ENSMUST00000152892]

Predicted Effect

probably null
Transcript: ENSMUST00000119336

SMART Domains

Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
Blast:ANK	18	48	1e-6	BLAST
ANK	52	81	2.92e-2	SMART
ANK	85	114	7.53e-5	SMART
ANK	118	149	4.07e-1	SMART
ANK	151	180	2.92e-2	SMART
ANK	184	213	3.97e-4	SMART
low complexity region	240	250	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
internal_repeat_2	488	606	4.87e-8	PROSPERO
internal_repeat_2	597	713	4.87e-8	PROSPERO
low complexity region	718	736	N/A	INTRINSIC
coiled coil region	747	895	N/A	INTRINSIC
Blast:ANK	950	977	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123896

SMART Domains

Protein: ENSMUSP00000116603
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
ANK	23	54	4.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123993

SMART Domains

Protein: ENSMUSP00000117975
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:ANK	48	78	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000126323

SMART Domains

Protein: ENSMUSP00000118286
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
ANK	7	36	2.92e-2	SMART
ANK	40	69	3.97e-4	SMART
low complexity region	96	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129491

Predicted Effect

probably null
Transcript: ENSMUST00000140345

SMART Domains

Protein: ENSMUSP00000123618
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:ANK	48	78	9e-8	BLAST
ANK	82	111	2.92e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152892

SMART Domains

Protein: ENSMUSP00000123676
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
ANK	24	53	7.53e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154707

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,676	V80A	unknown	Het
Adam28	A	G	14: 68,642,114	S162P	probably benign	Het
Adamts14	G	T	10: 61,225,373	S426Y	probably damaging	Het
B3galt5	C	A	16: 96,315,723	H185Q	probably benign	Het
Bod1l	A	G	5: 41,838,173		probably benign	Het
Ddx46	T	A	13: 55,666,332	Y700*	probably null	Het
Dph7	T	G	2: 24,971,923		probably null	Het
Fcho1	A	T	8: 71,713,523	Y354*	probably null	Het
Fnbp4	A	G	2: 90,777,669	M912V	probably benign	Het
Fpgt	T	A	3: 155,091,492	E42V	possibly damaging	Het
Frmd3	A	G	4: 74,074,120	I75V	possibly damaging	Het
Gm10264	G	A	12: 88,329,272	G7R	unknown	Het
Gm3278	G	T	14: 4,895,222	V159L	possibly damaging	Het
Gmds	T	C	13: 32,127,030	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,740,369	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,304,881	E102G	probably damaging	Het
Itga1	T	A	13: 114,997,000	Y458F	probably benign	Het
Kif20b	T	C	19: 34,938,260	V479A	possibly damaging	Het
Megf8	T	A	7: 25,338,374	W772R	probably benign	Het
Muc6	T	A	7: 141,637,162	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,003,560	S258P	probably damaging	Het
Padi3	T	C	4: 140,796,334		probably benign	Het
Pmfbp1	G	T	8: 109,537,993	R897L	possibly damaging	Het
Rims1	A	T	1: 22,486,620	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,918,036	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,847,406	A89T	probably benign	Het
Tbk1	T	C	10: 121,551,272	E706G	probably benign	Het
Thra	A	G	11: 98,762,928	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,934,187	Y33*	probably null	Het
Usp6nl	T	A	2: 6,424,387	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,618,904	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,453,759	T485A	probably benign	Het
Zfat	T	C	15: 68,170,166	I840V	possibly damaging	Het

Other mutations in Ankrd24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Ankrd24	APN	10	81643145	unclassified	probably benign
IGL00809:Ankrd24	APN	10	81643067	unclassified	probably benign
IGL01073:Ankrd24	APN	10	81639322	missense	possibly damaging	0.76
IGL01875:Ankrd24	APN	10	81629737	unclassified	probably benign
IGL03083:Ankrd24	APN	10	81638649	missense	probably benign
IGL03335:Ankrd24	APN	10	81647133	missense	probably benign	0.18
R0129:Ankrd24	UTSW	10	81638329	missense	probably damaging	1.00
R0243:Ankrd24	UTSW	10	81634944	missense	probably damaging	1.00
R0522:Ankrd24	UTSW	10	81636355	splice site	probably benign
R0607:Ankrd24	UTSW	10	81638308	missense	probably damaging	0.98
R0707:Ankrd24	UTSW	10	81642713	unclassified	probably benign
R1472:Ankrd24	UTSW	10	81634920	missense	probably damaging	1.00
R1766:Ankrd24	UTSW	10	81638638	missense	probably benign	0.13
R1852:Ankrd24	UTSW	10	81642941	unclassified	probably benign
R1891:Ankrd24	UTSW	10	81643508	unclassified	probably benign
R2137:Ankrd24	UTSW	10	81646309	missense	probably damaging	1.00
R3790:Ankrd24	UTSW	10	81642679	unclassified	probably benign
R4798:Ankrd24	UTSW	10	81643315	unclassified	probably benign
R4952:Ankrd24	UTSW	10	81647148	missense	probably benign	0.01
R5068:Ankrd24	UTSW	10	81639865	missense	possibly damaging	0.87
R5237:Ankrd24	UTSW	10	81642545	unclassified	probably benign
R5418:Ankrd24	UTSW	10	81644942	unclassified	probably benign
R5795:Ankrd24	UTSW	10	81645103	unclassified	probably benign
R7188:Ankrd24	UTSW	10	81636390	nonsense	probably null
R7614:Ankrd24	UTSW	10	81638689	missense	unknown
R7750:Ankrd24	UTSW	10	81646794	missense	possibly damaging	0.72
R8004:Ankrd24	UTSW	10	81638357	missense	unknown
R8190:Ankrd24	UTSW	10	81638318	missense	unknown
R8415:Ankrd24	UTSW	10	81640113	missense	unknown
RF001:Ankrd24	UTSW	10	81643571	unclassified	probably benign
RF011:Ankrd24	UTSW	10	81643571	unclassified	probably benign
RF037:Ankrd24	UTSW	10	81643573	nonsense	probably null
RF061:Ankrd24	UTSW	10	81643567	nonsense	probably null
Z1088:Ankrd24	UTSW	10	81638656	missense	probably damaging	1.00

Posted On

2013-06-28