Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Ankrd50'

40377

Institutional Source

Beutler Lab

Gene Symbol

Ankrd50

Ensembl Gene

ENSMUSG00000044864

Gene Name

ankyrin repeat domain 50

Synonyms

E430012K20Rik

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38449259-38484844 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38456361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 619 (H619R)

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: H619R

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

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: H619R

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: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957		probably benign	Het
Acot2	T	C	12: 83,990,613	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865	V53I	probably benign	Het
Arfgef3	A	T	10: 18,603,511	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352	N353T	probably benign	Het
Il7	T	A	3: 7,576,027	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445	Y259N	probably damaging	Het
Olfr1240	C	A	2: 89,440,175	V35L	possibly damaging	Het
Olfr1283	A	G	2: 111,369,105	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455	I211V	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304		probably null	Het
Ror1	A	T	4: 100,412,000	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544		probably null	Het
Slc40a1	G	A	1: 45,911,374	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926	T978A	probably benign	Het
Stom	C	A	2: 35,321,632	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903	D548G	probably benign	Het
Ust	A	G	10: 8,245,936	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496	S180P	possibly damaging	Het

Other mutations in Ankrd50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Ankrd50	APN	3	38452414	utr 3 prime	probably benign
BB006:Ankrd50	UTSW	3	38457109	missense	probably damaging	1.00
BB016:Ankrd50	UTSW	3	38457109	missense	probably damaging	1.00
PIT4378001:Ankrd50	UTSW	3	38455263	missense	possibly damaging	0.94
PIT4434001:Ankrd50	UTSW	3	38455263	missense	possibly damaging	0.94
PIT4651001:Ankrd50	UTSW	3	38455810	nonsense	probably null
R0048:Ankrd50	UTSW	3	38483049	missense	probably benign	0.00
R0048:Ankrd50	UTSW	3	38483049	missense	probably benign	0.00
R0127:Ankrd50	UTSW	3	38456235	missense	probably benign	0.00
R0179:Ankrd50	UTSW	3	38455314	missense	possibly damaging	0.61
R0593:Ankrd50	UTSW	3	38483007	nonsense	probably null
R1076:Ankrd50	UTSW	3	38454922	missense	probably damaging	0.97
R1127:Ankrd50	UTSW	3	38457187	missense	probably benign	0.02
R1169:Ankrd50	UTSW	3	38454252	missense	probably damaging	1.00
R1212:Ankrd50	UTSW	3	38455687	missense	probably damaging	1.00
R1447:Ankrd50	UTSW	3	38455542	missense	probably damaging	1.00
R1864:Ankrd50	UTSW	3	38454461	missense	probably benign	0.02
R1900:Ankrd50	UTSW	3	38455387	missense	probably damaging	1.00
R1907:Ankrd50	UTSW	3	38454052	missense	probably damaging	1.00
R1912:Ankrd50	UTSW	3	38456776	missense	probably benign	0.07
R2051:Ankrd50	UTSW	3	38454493	missense	probably benign	0.21
R2197:Ankrd50	UTSW	3	38455592	missense	probably damaging	1.00
R2403:Ankrd50	UTSW	3	38483085	nonsense	probably null
R3716:Ankrd50	UTSW	3	38454150	missense	probably damaging	0.99
R3944:Ankrd50	UTSW	3	38452496	missense	probably benign	0.03
R3948:Ankrd50	UTSW	3	38482841	missense	possibly damaging	0.75
R4483:Ankrd50	UTSW	3	38457531	missense	probably damaging	1.00
R4577:Ankrd50	UTSW	3	38455941	missense	probably damaging	0.98
R4691:Ankrd50	UTSW	3	38483010	missense	probably benign	0.01
R4907:Ankrd50	UTSW	3	38454973	nonsense	probably null
R4907:Ankrd50	UTSW	3	38456675	missense	probably damaging	0.98
R5135:Ankrd50	UTSW	3	38455803	missense	probably damaging	1.00
R5356:Ankrd50	UTSW	3	38456185	missense	probably damaging	0.99
R5368:Ankrd50	UTSW	3	38455050	missense	probably damaging	1.00
R5534:Ankrd50	UTSW	3	38456082	missense	probably damaging	0.99
R6103:Ankrd50	UTSW	3	38454429	missense	probably damaging	0.99
R6169:Ankrd50	UTSW	3	38455839	missense	probably damaging	1.00
R6653:Ankrd50	UTSW	3	38457361	missense	probably damaging	1.00
R7317:Ankrd50	UTSW	3	38483183	missense	possibly damaging	0.90
R7469:Ankrd50	UTSW	3	38454193	missense	probably damaging	0.99
R7617:Ankrd50	UTSW	3	38484682	unclassified	probably benign
R7749:Ankrd50	UTSW	3	38482721	missense	probably damaging	1.00
R7929:Ankrd50	UTSW	3	38457109	missense	probably damaging	1.00
R8723:Ankrd50	UTSW	3	38457304	missense	probably damaging	1.00
R9046:Ankrd50	UTSW	3	38452493	missense	probably benign	0.03
R9164:Ankrd50	UTSW	3	38457055	missense	probably damaging	1.00
R9356:Ankrd50	UTSW	3	38456087	missense	probably damaging	1.00
R9359:Ankrd50	UTSW	3	38483023	missense	probably damaging	0.97
R9654:Ankrd50	UTSW	3	38456869	missense	probably benign
R9674:Ankrd50	UTSW	3	38452425	missense	unknown
Z1088:Ankrd50	UTSW	3	38457165	missense	probably damaging	0.96
Z1177:Ankrd50	UTSW	3	38455792	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAATCAGGAGGCTCACGACTGAC -3'
(R):5'- AGCCGACTTAGAGATCGAAGACGC -3'

Sequencing Primer
(F):5'- TTGCAGGCACACAGAGC -3'
(R):5'- CTAGCTGCTAGACAAGGGCAC -3'

Posted On

2013-05-23