Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Ankrd52'

550841

Institutional Source

Beutler Lab

Gene Symbol

Ankrd52

Ensembl Gene

ENSMUSG00000014498

Gene Name

ankyrin repeat domain 52

Synonyms

G431002C21Rik

MMRRC Submission

045193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128212993-128229875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128218249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 318 (R318C)

Ref Sequence

ENSEMBL: ENSMUSP00000014642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014642]

AlphaFold

Q8BTI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000014642
AA Change: R318C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: R318C

Domain	Start	End	E-Value	Type
ANK	7	36	4.44e2	SMART
ANK	40	69	6.55e-5	SMART
ANK	73	102	1.03e-2	SMART
ANK	106	135	1.5e1	SMART
ANK	139	168	5.49e-7	SMART
ANK	172	201	3.01e-4	SMART
ANK	205	234	1.2e-3	SMART
ANK	238	267	2.62e-4	SMART
ANK	271	301	9.78e-4	SMART
ANK	305	334	3.85e-2	SMART
ANK	338	367	5.62e-4	SMART
ANK	371	402	1.55e2	SMART
ANK	422	451	2.16e-5	SMART
ANK	455	484	3.28e-5	SMART
ANK	488	545	2.79e1	SMART
ANK	549	578	5.45e-2	SMART
ANK	584	613	1.84e1	SMART
ANK	617	646	3.85e-2	SMART
ANK	651	682	2.1e-3	SMART
ANK	687	716	6.76e-7	SMART
ANK	720	749	1.07e0	SMART
ANK	753	784	2.92e-2	SMART
ANK	790	819	1.12e-3	SMART
ANK	822	853	9.75e1	SMART
ANK	857	886	1.99e-4	SMART
ANK	890	920	5.09e-2	SMART
ANK	924	953	2.54e-2	SMART
ANK	960	989	1.34e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Blnk	T	A	19: 40,961,082 (GRCm39)	M21L	probably benign	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Homer1	C	A	13: 93,492,562 (GRCm39)	Q184K	probably benign	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Ngly1	G	A	14: 16,283,445 (GRCm38)	R408Q	probably damaging	Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or4c111	A	T	2: 88,844,324 (GRCm39)	V28E	possibly damaging	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Phlpp1	G	A	1: 106,100,397 (GRCm39)	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Six5	A	G	7: 18,828,784 (GRCm39)	T75A	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	probably benign	Het

Other mutations in Ankrd52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0014:Ankrd52	UTSW	10	128,222,321 (GRCm39)	missense	probably benign	0.37
R0014:Ankrd52	UTSW	10	128,222,321 (GRCm39)	missense	probably benign	0.37
R0139:Ankrd52	UTSW	10	128,222,007 (GRCm39)	missense	probably benign	0.35
R0226:Ankrd52	UTSW	10	128,225,727 (GRCm39)	splice site	probably null
R1355:Ankrd52	UTSW	10	128,224,565 (GRCm39)	missense	possibly damaging	0.48
R1370:Ankrd52	UTSW	10	128,224,565 (GRCm39)	missense	possibly damaging	0.48
R2190:Ankrd52	UTSW	10	128,219,487 (GRCm39)	missense	probably benign	0.01
R2566:Ankrd52	UTSW	10	128,225,220 (GRCm39)	missense	probably benign	0.39
R3884:Ankrd52	UTSW	10	128,224,824 (GRCm39)	missense	probably damaging	0.96
R4624:Ankrd52	UTSW	10	128,225,128 (GRCm39)	missense	probably damaging	1.00
R4706:Ankrd52	UTSW	10	128,214,030 (GRCm39)	missense	probably benign
R4750:Ankrd52	UTSW	10	128,213,958 (GRCm39)	missense	probably damaging	1.00
R4790:Ankrd52	UTSW	10	128,216,814 (GRCm39)	missense	possibly damaging	0.62
R4965:Ankrd52	UTSW	10	128,226,376 (GRCm39)	missense	probably benign	0.08
R5060:Ankrd52	UTSW	10	128,225,710 (GRCm39)	missense	possibly damaging	0.87
R5446:Ankrd52	UTSW	10	128,224,430 (GRCm39)	missense	probably damaging	1.00
R5798:Ankrd52	UTSW	10	128,223,479 (GRCm39)	missense	probably benign	0.01
R5977:Ankrd52	UTSW	10	128,218,566 (GRCm39)	missense	probably damaging	1.00
R5998:Ankrd52	UTSW	10	128,218,992 (GRCm39)	missense	probably damaging	1.00
R6107:Ankrd52	UTSW	10	128,222,881 (GRCm39)	missense	probably benign	0.19
R6478:Ankrd52	UTSW	10	128,215,200 (GRCm39)	splice site	probably null
R6579:Ankrd52	UTSW	10	128,223,011 (GRCm39)	missense	probably damaging	1.00
R6937:Ankrd52	UTSW	10	128,222,889 (GRCm39)	missense	probably benign	0.42
R7078:Ankrd52	UTSW	10	128,219,526 (GRCm39)	missense	probably benign	0.01
R7252:Ankrd52	UTSW	10	128,217,865 (GRCm39)	missense	probably damaging	1.00
R7324:Ankrd52	UTSW	10	128,222,032 (GRCm39)	missense	possibly damaging	0.74
R7505:Ankrd52	UTSW	10	128,225,924 (GRCm39)	missense	probably damaging	0.99
R7979:Ankrd52	UTSW	10	128,217,857 (GRCm39)	missense	probably damaging	1.00
R8178:Ankrd52	UTSW	10	128,225,170 (GRCm39)	missense	probably damaging	1.00
R8520:Ankrd52	UTSW	10	128,225,359 (GRCm39)	missense	probably damaging	1.00
R8985:Ankrd52	UTSW	10	128,222,978 (GRCm39)	missense	probably damaging	1.00
R9068:Ankrd52	UTSW	10	128,217,850 (GRCm39)	missense	probably damaging	1.00
R9717:Ankrd52	UTSW	10	128,216,457 (GRCm39)	missense	probably benign	0.18
X0028:Ankrd52	UTSW	10	128,217,720 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCTCACTGACGTGTTCCTAAAAG -3'
(R):5'- AGTTAGGGATCACTCAAGCGC -3'

Sequencing Primer
(F):5'- AGGCACTTTACATGTATGTATGTATG -3'
(R):5'- GGGATCACTCAAGCGCTATTCTATG -3'

Posted On

2019-05-15