Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Ankrd24'

48646

Institutional Source

Beutler Lab

Gene Symbol

Ankrd24

Ensembl Gene

ENSMUSG00000054708

Gene Name

ankyrin repeat domain 24

Synonyms

4631433D01Rik, D10Bur2e, 5730519E19Rik

MMRRC Submission

038715-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R0522 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81464374-81483444 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 81472189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123676 (fasta)

Gene Model

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

AlphaFold

Q80VM7

Predicted Effect

probably benign
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: ENSMUST00000123305

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

noncoding transcript
Transcript: ENSMUST00000137978

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000154707

Predicted Effect

probably benign
Transcript: ENSMUST00000152892

SMART Domains

Protein: ENSMUSP00000123676
Gene: ENSMUSG00000054708

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	Het

Other mutations in Ankrd24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Ankrd24	APN	10	81,478,979 (GRCm39)	unclassified	probably benign
IGL00809:Ankrd24	APN	10	81,478,901 (GRCm39)	unclassified	probably benign
IGL01021:Ankrd24	APN	10	81,470,995 (GRCm39)	splice site	probably null
IGL01073:Ankrd24	APN	10	81,475,156 (GRCm39)	missense	possibly damaging	0.76
IGL01875:Ankrd24	APN	10	81,465,571 (GRCm39)	unclassified	probably benign
IGL03083:Ankrd24	APN	10	81,474,483 (GRCm39)	missense	probably benign
IGL03335:Ankrd24	APN	10	81,482,967 (GRCm39)	missense	probably benign	0.18
R0129:Ankrd24	UTSW	10	81,474,163 (GRCm39)	missense	probably damaging	1.00
R0243:Ankrd24	UTSW	10	81,470,778 (GRCm39)	missense	probably damaging	1.00
R0607:Ankrd24	UTSW	10	81,474,142 (GRCm39)	missense	probably damaging	0.98
R0707:Ankrd24	UTSW	10	81,478,547 (GRCm39)	unclassified	probably benign
R1472:Ankrd24	UTSW	10	81,470,754 (GRCm39)	missense	probably damaging	1.00
R1766:Ankrd24	UTSW	10	81,474,472 (GRCm39)	missense	probably benign	0.13
R1852:Ankrd24	UTSW	10	81,478,775 (GRCm39)	unclassified	probably benign
R1891:Ankrd24	UTSW	10	81,479,342 (GRCm39)	unclassified	probably benign
R2137:Ankrd24	UTSW	10	81,482,143 (GRCm39)	missense	probably damaging	1.00
R3790:Ankrd24	UTSW	10	81,478,513 (GRCm39)	unclassified	probably benign
R4798:Ankrd24	UTSW	10	81,479,149 (GRCm39)	unclassified	probably benign
R4952:Ankrd24	UTSW	10	81,482,982 (GRCm39)	missense	probably benign	0.01
R5068:Ankrd24	UTSW	10	81,475,699 (GRCm39)	missense	possibly damaging	0.87
R5237:Ankrd24	UTSW	10	81,478,379 (GRCm39)	unclassified	probably benign
R5418:Ankrd24	UTSW	10	81,480,776 (GRCm39)	unclassified	probably benign
R5795:Ankrd24	UTSW	10	81,480,937 (GRCm39)	unclassified	probably benign
R7188:Ankrd24	UTSW	10	81,472,224 (GRCm39)	nonsense	probably null
R7614:Ankrd24	UTSW	10	81,474,523 (GRCm39)	missense	unknown
R7750:Ankrd24	UTSW	10	81,482,628 (GRCm39)	missense	possibly damaging	0.72
R8004:Ankrd24	UTSW	10	81,474,191 (GRCm39)	missense	unknown
R8190:Ankrd24	UTSW	10	81,474,152 (GRCm39)	missense	unknown
R8415:Ankrd24	UTSW	10	81,475,947 (GRCm39)	missense	unknown
R8670:Ankrd24	UTSW	10	81,465,526 (GRCm39)	start gained	probably benign
R8898:Ankrd24	UTSW	10	81,478,352 (GRCm39)	missense	unknown
R9475:Ankrd24	UTSW	10	81,478,133 (GRCm39)	critical splice acceptor site	probably null
R9593:Ankrd24	UTSW	10	81,475,898 (GRCm39)	missense	unknown
R9744:Ankrd24	UTSW	10	81,482,951 (GRCm39)	missense	possibly damaging	0.70
R9780:Ankrd24	UTSW	10	81,482,196 (GRCm39)	missense	possibly damaging	0.73
RF001:Ankrd24	UTSW	10	81,479,405 (GRCm39)	unclassified	probably benign
RF011:Ankrd24	UTSW	10	81,479,405 (GRCm39)	unclassified	probably benign
RF037:Ankrd24	UTSW	10	81,479,407 (GRCm39)	nonsense	probably null
RF061:Ankrd24	UTSW	10	81,479,401 (GRCm39)	nonsense	probably null
Z1088:Ankrd24	UTSW	10	81,474,490 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTCTCAGCAGTGTGCCC -3'
(R):5'- GCATTCAGGTCAAAAGAAGCAAAGCA -3'

Sequencing Primer
(F):5'- ctgccatatgtgagcatgca -3'
(R):5'- accccagcaccaggaag -3'

Posted On

2013-06-12