Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Ankrd50'

342527

Institutional Source

Beutler Lab

Gene Symbol

Ankrd50

Ensembl Gene

ENSMUSG00000044864

Gene Name

ankyrin repeat domain 50

Synonyms

E430012K20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38503408-38538993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38510090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 759 (V759A)

Ref Sequence

ENSEMBL: ENSMUSP00000122842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094300] [ENSMUST00000120875] [ENSMUST00000156038]

AlphaFold

A6H6J9

Predicted Effect

probably benign
Transcript: ENSMUST00000094300

SMART Domains

Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864

Domain	Start	End	E-Value	Type
ANK	18	47	1.16e-5	SMART
ANK	51	80	3.41e-3	SMART
ANK	84	113	2.9e-6	SMART
ANK	117	147	3.31e-1	SMART
low complexity region	216	243	N/A	INTRINSIC
low complexity region	262	282	N/A	INTRINSIC
low complexity region	301	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120875

SMART Domains

Protein: ENSMUSP00000113349
Gene: ENSMUSG00000044864

Domain	Start	End	E-Value	Type
SCOP:d1kaga_	72	90	4e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000156038
AA Change: V759A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: V759A

Domain	Start	End	E-Value	Type
Blast:ANK	440	472	8e-11	BLAST
ANK	507	536	7.95e-4	SMART
ANK	540	569	1.01e-5	SMART
ANK	573	602	6.81e-3	SMART
ANK	606	635	1.7e-3	SMART
ANK	639	668	7.64e-6	SMART
ANK	672	706	4.5e-3	SMART
ANK	710	739	3.33e-6	SMART
ANK	743	772	5.37e-1	SMART
ANK	776	806	1.65e-1	SMART
ANK	809	838	1.2e-3	SMART
ANK	842	871	3.97e-4	SMART
ANK	875	904	3.06e-5	SMART
ANK	908	937	2.88e-1	SMART
ANK	941	970	1.16e-5	SMART
ANK	974	1003	3.41e-3	SMART
ANK	1007	1036	2.9e-6	SMART
ANK	1040	1070	3.31e-1	SMART
low complexity region	1139	1166	N/A	INTRINSIC
low complexity region	1185	1205	N/A	INTRINSIC
low complexity region	1224	1255	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,768,220 (GRCm39)	C455Y	probably damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Cep170b	A	G	12: 112,711,152 (GRCm39)	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,437,199 (GRCm39)	V50I	probably damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Wdr27	T	C	17: 15,123,724 (GRCm39)	H583R	probably benign	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	probably damaging	Het

Other mutations in Ankrd50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Ankrd50	APN	3	38,506,563 (GRCm39)	utr 3 prime	probably benign
BB006:Ankrd50	UTSW	3	38,511,258 (GRCm39)	missense	probably damaging	1.00
BB016:Ankrd50	UTSW	3	38,511,258 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Ankrd50	UTSW	3	38,509,412 (GRCm39)	missense	possibly damaging	0.94
PIT4434001:Ankrd50	UTSW	3	38,509,412 (GRCm39)	missense	possibly damaging	0.94
PIT4651001:Ankrd50	UTSW	3	38,509,959 (GRCm39)	nonsense	probably null
R0048:Ankrd50	UTSW	3	38,537,198 (GRCm39)	missense	probably benign	0.00
R0048:Ankrd50	UTSW	3	38,537,198 (GRCm39)	missense	probably benign	0.00
R0127:Ankrd50	UTSW	3	38,510,384 (GRCm39)	missense	probably benign	0.00
R0179:Ankrd50	UTSW	3	38,509,463 (GRCm39)	missense	possibly damaging	0.61
R0417:Ankrd50	UTSW	3	38,510,510 (GRCm39)	missense	probably damaging	1.00
R0593:Ankrd50	UTSW	3	38,537,156 (GRCm39)	nonsense	probably null
R1076:Ankrd50	UTSW	3	38,509,071 (GRCm39)	missense	probably damaging	0.97
R1127:Ankrd50	UTSW	3	38,511,336 (GRCm39)	missense	probably benign	0.02
R1169:Ankrd50	UTSW	3	38,508,401 (GRCm39)	missense	probably damaging	1.00
R1212:Ankrd50	UTSW	3	38,509,836 (GRCm39)	missense	probably damaging	1.00
R1447:Ankrd50	UTSW	3	38,509,691 (GRCm39)	missense	probably damaging	1.00
R1864:Ankrd50	UTSW	3	38,508,610 (GRCm39)	missense	probably benign	0.02
R1900:Ankrd50	UTSW	3	38,509,536 (GRCm39)	missense	probably damaging	1.00
R1907:Ankrd50	UTSW	3	38,508,201 (GRCm39)	missense	probably damaging	1.00
R1912:Ankrd50	UTSW	3	38,510,925 (GRCm39)	missense	probably benign	0.07
R2051:Ankrd50	UTSW	3	38,508,642 (GRCm39)	missense	probably benign	0.21
R2197:Ankrd50	UTSW	3	38,509,741 (GRCm39)	missense	probably damaging	1.00
R2403:Ankrd50	UTSW	3	38,537,234 (GRCm39)	nonsense	probably null
R3716:Ankrd50	UTSW	3	38,508,299 (GRCm39)	missense	probably damaging	0.99
R3944:Ankrd50	UTSW	3	38,506,645 (GRCm39)	missense	probably benign	0.03
R3948:Ankrd50	UTSW	3	38,536,990 (GRCm39)	missense	possibly damaging	0.75
R4483:Ankrd50	UTSW	3	38,511,680 (GRCm39)	missense	probably damaging	1.00
R4691:Ankrd50	UTSW	3	38,537,159 (GRCm39)	missense	probably benign	0.01
R4907:Ankrd50	UTSW	3	38,510,824 (GRCm39)	missense	probably damaging	0.98
R4907:Ankrd50	UTSW	3	38,509,122 (GRCm39)	nonsense	probably null
R5135:Ankrd50	UTSW	3	38,509,952 (GRCm39)	missense	probably damaging	1.00
R5356:Ankrd50	UTSW	3	38,510,334 (GRCm39)	missense	probably damaging	0.99
R5368:Ankrd50	UTSW	3	38,509,199 (GRCm39)	missense	probably damaging	1.00
R5534:Ankrd50	UTSW	3	38,510,231 (GRCm39)	missense	probably damaging	0.99
R6103:Ankrd50	UTSW	3	38,508,578 (GRCm39)	missense	probably damaging	0.99
R6169:Ankrd50	UTSW	3	38,509,988 (GRCm39)	missense	probably damaging	1.00
R6653:Ankrd50	UTSW	3	38,511,510 (GRCm39)	missense	probably damaging	1.00
R7317:Ankrd50	UTSW	3	38,537,332 (GRCm39)	missense	possibly damaging	0.90
R7469:Ankrd50	UTSW	3	38,508,342 (GRCm39)	missense	probably damaging	0.99
R7617:Ankrd50	UTSW	3	38,538,831 (GRCm39)	unclassified	probably benign
R7749:Ankrd50	UTSW	3	38,536,870 (GRCm39)	missense	probably damaging	1.00
R7929:Ankrd50	UTSW	3	38,511,258 (GRCm39)	missense	probably damaging	1.00
R8723:Ankrd50	UTSW	3	38,511,453 (GRCm39)	missense	probably damaging	1.00
R9046:Ankrd50	UTSW	3	38,506,642 (GRCm39)	missense	probably benign	0.03
R9164:Ankrd50	UTSW	3	38,511,204 (GRCm39)	missense	probably damaging	1.00
R9356:Ankrd50	UTSW	3	38,510,236 (GRCm39)	missense	probably damaging	1.00
R9359:Ankrd50	UTSW	3	38,537,172 (GRCm39)	missense	probably damaging	0.97
R9654:Ankrd50	UTSW	3	38,511,018 (GRCm39)	missense	probably benign
R9674:Ankrd50	UTSW	3	38,506,574 (GRCm39)	missense	unknown
Z1088:Ankrd50	UTSW	3	38,511,314 (GRCm39)	missense	probably damaging	0.96
Z1177:Ankrd50	UTSW	3	38,509,941 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTAGCACCTTGTTCAATGAGAGC -3'
(R):5'- GGCTGAGGTAGATCACTGTG -3'

Sequencing Primer
(F):5'- CTCAAAAGCTGCCATGTGTAG -3'
(R):5'- TGACAAGGATGGCATGACCCC -3'

Posted On

2015-09-24