Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Ankrd24'

398541

Institutional Source

Beutler Lab

Gene Symbol

Ankrd24

Ensembl Gene

ENSMUSG00000054708

Gene Name

ankyrin repeat domain 24

Synonyms

4631433D01Rik, D10Bur2e, 5730519E19Rik

MMRRC Submission

042808-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81464374-81483444 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 81478379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123676 (fasta)

Gene Model

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

AlphaFold

Q80VM7

Predicted Effect

unknown
Transcript: ENSMUST00000119336
AA Change: A446E

SMART Domains

Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: A446E

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

probably benign
Transcript: ENSMUST00000132458

SMART Domains

Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
coiled coil region	1	94	N/A	INTRINSIC
Blast:ANK	142	175	3e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142390

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

Meta Mutation Damage Score

0.0883

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Ezh1	A	G	11: 101,107,819 (GRCm39)		probably null	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or52w1	A	T	7: 105,018,513 (GRCm39)	K327*	probably null	Het
Or8b54	C	T	9: 38,687,252 (GRCm39)	R234W	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setbp1	T	A	18: 78,900,190 (GRCm39)	D1159V	possibly damaging	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,919,118 (GRCm39)	V914E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Sv2c	G	A	13: 96,118,391 (GRCm39)	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	probably damaging	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
R0522:Ankrd24	UTSW	10	81,472,189 (GRCm39)	splice site	probably benign
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
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'- ACCAGAGTCCATCAGCAGAG -3'
(R):5'- TCCATTCTGGATAGTGATTCCC -3'

Sequencing Primer
(F):5'- GCAGAGGAAATAGTTGCTTCCCTAC -3'
(R):5'- TGGATAGTGATTCCCTTATCCTTG -3'

Posted On

2016-07-06