Mutagenetix > Incidental Mutations

Incidental Mutation 'R5795:Ankrd24'

447186

Institutional Source

Beutler Lab

Gene Symbol

Ankrd24

Ensembl Gene

ENSMUSG00000054708

Gene Name

ankyrin repeat domain 24

Synonyms

4631433D01Rik, 5730519E19Rik, D10Bur2e

MMRRC Submission

043386-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R5795 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

81628540-81647610 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 81645103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119336] [ENSMUST00000123993] [ENSMUST00000189672]

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: 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

unknown
Transcript: ENSMUST00000132458
AA Change: A73D

SMART Domains

Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708
AA Change: A73D

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: ENSMUST00000142390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154707

Predicted Effect

probably benign
Transcript: ENSMUST00000189672

SMART Domains

Protein: ENSMUSP00000140398
Gene: ENSMUSG00000096856

Domain	Start	End	E-Value	Type
KRAB	4	66	1.5e-18	SMART
ZnF_C2H2	104	126	6.4e-6	SMART
ZnF_C2H2	132	154	4.4e-8	SMART
ZnF_C2H2	160	182	1.5e-5	SMART
ZnF_C2H2	188	210	3.5e-6	SMART
ZnF_C2H2	216	238	2.9e-6	SMART
ZnF_C2H2	244	266	3e-5	SMART
ZnF_C2H2	272	294	7.7e-6	SMART
ZnF_C2H2	300	322	2e-5	SMART
ZnF_C2H2	328	350	1.4e-6	SMART
ZnF_C2H2	356	378	1.4e-4	SMART
ZnF_C2H2	384	406	9.4e-6	SMART
ZnF_C2H2	412	434	4.3e-5	SMART
ZnF_C2H2	440	462	2e-6	SMART
ZnF_C2H2	468	490	3.7e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	A	G	9: 104,309,489	V261A	probably benign	Het
Adipor1	C	A	1: 134,424,903	N137K	probably damaging	Het
Ahnak	A	T	19: 9,012,382	K3677*	probably null	Het
Appl1	G	T	14: 26,942,816	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,121,968	F249L	possibly damaging	Het
Brat1	G	T	5: 140,713,072	A275S	probably benign	Het
C5ar1	T	C	7: 16,248,394	K234E	possibly damaging	Het
Ccs	A	G	19: 4,833,339		probably null	Het
Chmp5	T	G	4: 40,950,562		probably null	Het
Chrna3	T	A	9: 55,015,268	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 141,041,807		probably null	Het
Csf3	G	T	11: 98,702,027	C72F	probably damaging	Het
Dbndd1	A	G	8: 123,509,880	I83T	probably damaging	Het
Ercc6	A	G	14: 32,526,352	K287E	probably damaging	Het
F5	C	T	1: 164,152,009	T16I	probably benign	Het
Gif	A	G	19: 11,760,376	T384A	probably damaging	Het
Gm14085	T	C	2: 122,517,994	M274T	possibly damaging	Het
Hephl1	C	T	9: 15,069,760	G792E	probably damaging	Het
Hmmr	T	A	11: 40,721,906	D158V	probably damaging	Het
Hsd11b1	A	G	1: 193,240,632	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Irf7	G	A	7: 141,265,116	P118L	probably damaging	Het
Lama1	A	G	17: 67,796,727	N1981S	probably benign	Het
Lrp4	A	G	2: 91,474,471	D224G	probably benign	Het
Mink1	T	C	11: 70,607,790	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,514,157	V412M	probably damaging	Het
Muc5b	G	A	7: 141,871,741	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,996,622	E34K	probably damaging	Het
Oaf	T	A	9: 43,223,944	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,114,761	G278D	probably damaging	Het
Olfr1448	A	G	19: 12,919,824	F162L	possibly damaging	Het
Olfr91	A	G	17: 37,093,769	L35P	probably damaging	Het
Paf1	T	G	7: 28,396,618	M250R	probably damaging	Het
Pcdh8	T	C	14: 79,770,980	T48A	possibly damaging	Het
Pdzph1	A	G	17: 58,885,867	V1096A	possibly damaging	Het
Polr3b	A	T	10: 84,628,252	E25D	probably benign	Het
Polr3b	T	C	10: 84,677,011	S586P	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc31a2	T	C	4: 62,297,052	V112A	probably damaging	Het
Spire1	A	T	18: 67,495,195	S412T	probably benign	Het
Tanc1	A	G	2: 59,807,582	T876A	possibly damaging	Het
Tango6	T	A	8: 106,718,077	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,909,658	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,215,062	M125K	possibly damaging	Het
Traf5	T	C	1: 191,999,846	S345G	probably benign	Het
Ush2a	A	T	1: 188,443,397	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,030,110	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,030,282	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,228,736	C60S	probably benign	Het
Zfp316	A	T	5: 143,262,839	D217E	unknown	Het
Zfp456	A	T	13: 67,366,920	D222E	probably benign	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
IGL01021:Ankrd24	APN	10	81635161	splice site	probably null
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
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
R8670:Ankrd24	UTSW	10	81629692	start gained	probably benign
R8898:Ankrd24	UTSW	10	81642518	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

Predicted Primers

PCR Primer
(F):5'- ATCCAAGCCACTTTGGGGTC -3'
(R):5'- GGTTACCATTGCATATCAACACC -3'

Sequencing Primer
(F):5'- CCAAGCCACTTTGGGGTCTAAATG -3'
(R):5'- CCAAAAGTGAATCTGCTGAGACTTTC -3'

Posted On

2016-12-15