Mutagenetix > Incidental Mutation

Incidental Mutation 'R4483:Ankrd50'

331488

Institutional Source

Beutler Lab

Gene Symbol

Ankrd50

Ensembl Gene

ENSMUSG00000044864

Gene Name

ankyrin repeat domain 50

Synonyms

E430012K20Rik

MMRRC Submission

041739-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R4483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38449259-38484844 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38457531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 229 (V229A)

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: V229A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: V229A

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

Meta Mutation Damage Score

0.2597

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,419,230	G5275S	probably benign	Het
Akap11	A	G	14: 78,510,259	S1563P	probably damaging	Het
AW112010	A	G	19: 11,050,393		noncoding transcript	Het
Ccdc158	A	G	5: 92,633,328	S873P	probably benign	Het
Cep350	A	G	1: 155,926,468	V1104A	probably benign	Het
Chil4	G	A	3: 106,214,362	A57V	probably damaging	Het
Cpa5	A	G	6: 30,624,626	E155G	probably damaging	Het
Ctsq	T	C	13: 61,038,912	I93V	probably benign	Het
Dbi	A	T	1: 120,120,805	I37K	probably benign	Het
Defa35	T	C	8: 21,065,192	S43P	probably damaging	Het
Fance	T	A	17: 28,315,807		probably benign	Het
Fbxl6	A	G	15: 76,537,929	L180P	probably damaging	Het
Fkbpl	T	C	17: 34,646,295	F346L	probably damaging	Het
Gm11735	C	A	11: 116,741,275		noncoding transcript	Het
Gm28042	T	C	2: 120,035,840	I373T	possibly damaging	Het
Golga4	T	C	9: 118,514,186	S27P	probably damaging	Het
Gstm1	C	T	3: 108,016,518		probably null	Het
Lama3	T	A	18: 12,549,253	I1092K	probably benign	Het
Med15	A	T	16: 17,671,564		probably benign	Het
Nlrp6	A	G	7: 140,921,781	D87G	probably damaging	Het
Parp11	A	G	6: 127,471,605	T62A	probably benign	Het
Pcnt	A	G	10: 76,401,483	L1323S	probably damaging	Het
Ppp2r1a	C	T	17: 20,955,810	T98I	probably benign	Het
Pramef6	T	A	4: 143,895,840	Y315F	probably damaging	Het
Prl7a2	T	A	13: 27,660,947	H152L	possibly damaging	Het
Rnf145	T	C	11: 44,564,277	S662P	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Tnfaip3	A	T	10: 19,011,627	M50K	probably damaging	Het
Txlnb	T	TTA	10: 17,838,997		probably null	Het
Usp9x	A	G	X: 13,121,448	D638G	possibly damaging	Het
Vmn1r30	A	T	6: 58,435,133	V238E	probably damaging	Het
Zfp507	A	G	7: 35,787,716		probably null	Het
Zfp532	G	T	18: 65,656,565	W1025L	probably benign	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
R0417:Ankrd50	UTSW	3	38456361	missense	probably damaging	1.00
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
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'- TCCCGAAGCATGATGAAGTTC -3'
(R):5'- TTAGCCACACTTGTTGGTAGG -3'

Sequencing Primer
(F):5'- GCATGATGAAGTTCTCTACGACGC -3'
(R):5'- CATACTAGCAGGTGTAGGTAGATTC -3'

Posted On

2015-07-21