Mutagenetix > Incidental Mutation

Incidental Mutation 'R9780:Ankrd24'

733985

Institutional Source

Beutler Lab

Gene Symbol

Ankrd24

Ensembl Gene

ENSMUSG00000054708

Gene Name

ankyrin repeat domain 24

Synonyms

4631433D01Rik, D10Bur2e, 5730519E19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R9780 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81464374-81483444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81482196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 915 (S915P)

Ref Sequence

ENSEMBL: ENSMUSP00000112932 (fasta)

Gene Model

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

AlphaFold

Q80VM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119336
AA Change: S915P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: S915P

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

SMART Domains

Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708
AA Change: S106P

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

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,911,447 (GRCm39)	T1344A	probably benign	Het
Actrt3	T	A	3: 30,652,876 (GRCm39)	I73F	probably damaging	Het
Ano1	A	T	7: 144,209,358 (GRCm39)	F281I	probably damaging	Het
Arhgap42	A	G	9: 9,059,102 (GRCm39)	V148A	probably benign	Het
Arnt2	A	G	7: 83,954,426 (GRCm39)	I256T	probably benign	Het
Bloc1s3	G	A	7: 19,241,408 (GRCm39)	S40L	possibly damaging	Het
Cep68	G	A	11: 20,192,142 (GRCm39)	P19L	probably benign	Het
Chst9	T	A	18: 15,586,221 (GRCm39)	Q114L	probably benign	Het
Cpa2	T	A	6: 30,545,536 (GRCm39)	F106I	probably benign	Het
Cplane1	A	G	15: 8,258,123 (GRCm39)	E2123G	probably benign	Het
Crocc	T	C	4: 140,756,556 (GRCm39)	D1187G	probably benign	Het
Dhx8	A	T	11: 101,632,403 (GRCm39)	D454V	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif3a	A	T	19: 60,766,398 (GRCm39)	L310H	probably damaging	Het
Ergic3	C	A	2: 155,853,164 (GRCm39)	Y202*	probably null	Het
Fam117a	A	T	11: 95,268,309 (GRCm39)	I237L	possibly damaging	Het
Fcsk	T	C	8: 111,613,743 (GRCm39)	M773V	probably benign	Het
Gcnt4	T	A	13: 97,083,948 (GRCm39)	S415T	probably benign	Het
Hacl1	C	A	14: 31,362,519 (GRCm39)	V43L	possibly damaging	Het
Hbb-bh2	A	G	7: 103,489,624 (GRCm39)	L4P	probably damaging	Het
Hmbs	A	G	9: 44,247,985 (GRCm39)	L357P	probably damaging	Het
Hpcal1	A	G	12: 17,836,494 (GRCm39)	Y108C	probably damaging	Het
Hspa14	A	T	2: 3,490,741 (GRCm39)	M482K	probably damaging	Het
Ifi27l2b	G	T	12: 103,417,461 (GRCm39)	P242Q	unknown	Het
Insyn1	A	G	9: 58,406,881 (GRCm39)	N264D	probably damaging	Het
Itpr1	T	C	6: 108,487,795 (GRCm39)	V2407A	probably benign	Het
Lcp1	T	C	14: 75,440,178 (GRCm39)	F154S	probably damaging	Het
Lmod2	T	C	6: 24,604,233 (GRCm39)	S403P	probably damaging	Het
Lrrc63	G	A	14: 75,360,500 (GRCm39)	A334V	probably damaging	Het
Lrriq1	T	A	10: 103,025,824 (GRCm39)	T933S	probably damaging	Het
Mga	A	G	2: 119,747,253 (GRCm39)	Y468C	probably benign	Het
Msh4	T	C	3: 153,582,342 (GRCm39)	Y510C	probably damaging	Het
Myh11	T	C	16: 14,064,613 (GRCm39)	K235R		Het
Nek2	A	T	1: 191,554,738 (GRCm39)	D150V	probably damaging	Het
Nfkbil1	C	A	17: 35,439,898 (GRCm39)	R205L	possibly damaging	Het
Nox3	A	G	17: 3,736,260 (GRCm39)	F122S	possibly damaging	Het
Nrxn1	A	G	17: 90,931,042 (GRCm39)	V718A	possibly damaging	Het
Oplah	A	G	15: 76,181,940 (GRCm39)	I1061T	probably damaging	Het
Or13e8	G	A	4: 43,697,193 (GRCm39)		probably benign	Het
Or2y16	G	A	11: 49,335,014 (GRCm39)	C112Y	possibly damaging	Het
Or51b17	A	G	7: 103,542,631 (GRCm39)	S104P	probably damaging	Het
Or9m1	A	G	2: 87,733,426 (GRCm39)	L198P	probably damaging	Het
Pcf11	A	T	7: 92,313,313 (GRCm39)	D123E	possibly damaging	Het
Pcna	C	T	2: 132,094,794 (GRCm39)	E55K	probably benign	Het
Pip5k1c	T	C	10: 81,141,030 (GRCm39)	V46A	probably benign	Het
Plce1	T	G	19: 38,609,134 (GRCm39)	L481R	possibly damaging	Het
Psma7	A	T	2: 179,678,339 (GRCm39)	Y228N	unknown	Het
Rcbtb1	T	A	14: 59,465,796 (GRCm39)	Y380N	probably benign	Het
Rin2	A	T	2: 145,718,551 (GRCm39)	E677V	probably damaging	Het
Scgb2b11	A	G	7: 31,909,861 (GRCm39)	L75P	probably damaging	Het
Scn4a	A	G	11: 106,226,235 (GRCm39)	V775A	probably damaging	Het
Setx	A	G	2: 29,016,999 (GRCm39)	D34G	possibly damaging	Het
Slc38a9	A	T	13: 112,862,591 (GRCm39)	D430V	probably damaging	Het
Snapc4	A	T	2: 26,267,019 (GRCm39)	N77K	possibly damaging	Het
Stk32a	T	G	18: 43,375,049 (GRCm39)	F20V	probably benign	Het
Taf1b	G	A	12: 24,564,818 (GRCm39)	G145D	probably damaging	Het
Tomt	G	C	7: 101,549,536 (GRCm39)	Q251E	probably benign	Het
Tsc1	G	A	2: 28,565,761 (GRCm39)	E471K	probably damaging	Het
Ttll9	G	A	2: 152,836,023 (GRCm39)	A256T	possibly damaging	Het
Ttn	A	T	2: 76,774,289 (GRCm39)	C2252S	probably benign	Het
Ttn	A	T	2: 76,785,035 (GRCm39)	D797E	unknown	Het
Usf3	T	A	16: 44,039,181 (GRCm39)	N1220K	possibly damaging	Het
Usp22	A	T	11: 61,050,069 (GRCm39)	H355Q	probably benign	Het
Virma	T	A	4: 11,513,442 (GRCm39)	V432E	possibly damaging	Het
Vtn	A	C	11: 78,393,003 (GRCm39)	D456A	probably damaging	Het
Zbbx	A	G	3: 74,945,359 (GRCm39)	S688P	probably damaging	Het
Zfhx2	C	A	14: 55,312,494 (GRCm39)	D67Y	probably benign	Het
Zfp87	T	C	13: 67,665,241 (GRCm39)	H407R	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
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
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'- CTGGACTGTGTTCTGGCAAG -3'
(R):5'- ATGTCCAGTGGCTGCTAGTG -3'

Sequencing Primer
(F):5'- TGAGTCAGCTCAGCTCCTG -3'
(R):5'- TAGTGACTGCCTCGGGAAG -3'

Posted On

2022-11-14