Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Ankrd50'

579013

Institutional Source

Beutler Lab

Gene Symbol

Ankrd50

Ensembl Gene

ENSMUSG00000044864

Gene Name

ankyrin repeat domain 50

Synonyms

E430012K20Rik

MMRRC Submission

045543-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38503408-38538993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38508342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 419 (V419F)

Ref Sequence

ENSEMBL: ENSMUSP00000091858 (fasta)

Gene Model

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

AlphaFold

A6H6J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000094300
AA Change: V419F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864
AA Change: V419F

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

possibly damaging
Transcript: ENSMUST00000156038
AA Change: V1342F

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: V1342F

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

0.0714

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,259,014 (GRCm39)	L443P	probably damaging	Het
Abtb2	T	C	2: 103,397,292 (GRCm39)	V74A	probably benign	Het
Adam5	A	T	8: 25,305,541 (GRCm39)	F66I	probably benign	Het
Aff1	T	A	5: 103,981,413 (GRCm39)	D517E	probably benign	Het
Agbl3	A	G	6: 34,791,349 (GRCm39)	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,343,969 (GRCm39)	V482G	probably damaging	Het
Ankra2	C	T	13: 98,402,882 (GRCm39)	A43V	probably benign	Het
Arhgef16	G	A	4: 154,375,763 (GRCm39)	T77M	probably damaging	Het
Best3	T	C	10: 116,840,290 (GRCm39)	V240A	probably damaging	Het
Btbd7	T	C	12: 102,779,027 (GRCm39)	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,157,550 (GRCm39)	V305E	probably damaging	Het
Cacng8	G	A	7: 3,463,621 (GRCm39)	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,670,696 (GRCm39)	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,556,652 (GRCm39)	V184E	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctdspl2	A	T	2: 121,837,362 (GRCm39)	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,527,468 (GRCm39)	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,172,307 (GRCm39)	F407L	probably damaging	Het
Dcp2	T	C	18: 44,529,019 (GRCm39)	F45L	probably damaging	Het
Dhx34	C	T	7: 15,950,364 (GRCm39)	R268H	probably benign	Het
Dnajc7	A	T	11: 100,482,377 (GRCm39)	M205K	probably benign	Het
Dzip3	C	T	16: 48,765,242 (GRCm39)	V491M	probably benign	Het
Farp1	T	C	14: 121,512,833 (GRCm39)	L777P	probably damaging	Het
Fchsd2	T	G	7: 100,927,863 (GRCm39)		probably null	Het
Fer1l6	A	T	15: 58,462,419 (GRCm39)		probably null	Het
Fhip1a	T	C	3: 85,580,069 (GRCm39)	D712G	probably benign	Het
Fitm2	A	G	2: 163,311,742 (GRCm39)	F157S	probably damaging	Het
Flt1	G	T	5: 147,540,379 (GRCm39)	A770E	probably damaging	Het
Flt3	T	A	5: 147,268,084 (GRCm39)	E967V	probably benign	Het
Foxc1	G	C	13: 31,992,361 (GRCm39)	A391P	unknown	Het
Foxc1	C	T	13: 31,992,362 (GRCm39)	A391V	unknown	Het
Gimap6	T	A	6: 48,679,392 (GRCm39)	T215S	probably benign	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Itpr3	T	C	17: 27,340,028 (GRCm39)	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,380,635 (GRCm39)	Y601H	probably benign	Het
Map4	G	T	9: 109,856,865 (GRCm39)		probably null	Het
Mga	T	C	2: 119,733,527 (GRCm39)	M125T	probably damaging	Het
Mxi1	A	G	19: 53,360,091 (GRCm39)	D271G	probably damaging	Het
Ndst3	T	A	3: 123,465,310 (GRCm39)	T221S	possibly damaging	Het
Neto1	T	A	18: 86,516,813 (GRCm39)	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,161,555 (GRCm39)	E210G	probably damaging	Het
Nos2	G	T	11: 78,843,797 (GRCm39)	V915F	possibly damaging	Het
Nrros	G	A	16: 31,963,030 (GRCm39)	A329V	probably benign	Het
Numb	T	C	12: 83,850,578 (GRCm39)	K211E	probably benign	Het
Nup210	T	A	6: 90,995,874 (GRCm39)	I1671F	probably benign	Het
Or12j3	G	A	7: 139,953,050 (GRCm39)	L158F	possibly damaging	Het
Or4c106	T	A	2: 88,682,847 (GRCm39)	D184E	probably benign	Het
Or4c31	T	A	2: 88,291,691 (GRCm39)	H2Q	probably benign	Het
Pcdh15	A	T	10: 74,481,812 (GRCm39)	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,434,388 (GRCm39)	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,489,011 (GRCm39)	I230F	probably damaging	Het
Peli2	G	A	14: 48,488,015 (GRCm39)	V120I	probably benign	Het
Pramel15	T	A	4: 144,099,673 (GRCm39)	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,321,748 (GRCm39)	M96L	probably benign	Het
Prex2	T	A	1: 11,355,293 (GRCm39)	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,636,392 (GRCm39)	T138A	possibly damaging	Het
Psme4	C	T	11: 30,752,837 (GRCm39)	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,165,530 (GRCm39)		probably null	Het
Rps19	T	A	7: 24,589,190 (GRCm39)	*146K	probably null	Het
Rsu1	T	C	2: 13,082,371 (GRCm39)	N260S	probably benign	Het
Serpina3k	T	C	12: 104,311,594 (GRCm39)	C391R	not run	Het
Sipa1l1	T	G	12: 82,467,438 (GRCm39)		probably null	Het
Snd1	T	A	6: 28,626,126 (GRCm39)	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,374,831 (GRCm39)	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,863,278 (GRCm39)	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,795,146 (GRCm39)	K1535E	probably benign	Het
Srcin1	A	G	11: 97,425,435 (GRCm39)	S541P	probably damaging	Het
Tc2n	A	T	12: 101,631,934 (GRCm39)	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,090,475 (GRCm39)	D857G	probably benign	Het
Timm22	A	G	11: 76,298,134 (GRCm39)	D35G	probably benign	Het
Tram1l1	C	A	3: 124,114,889 (GRCm39)	H16Q	probably benign	Het
Uggt1	T	C	1: 36,190,814 (GRCm39)	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,879,379 (GRCm39)	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072 (GRCm39)	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,375,768 (GRCm39)	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,500,001 (GRCm39)	T196K	possibly damaging	Het
Xpo4	A	T	14: 57,835,436 (GRCm39)	H628Q	probably benign	Het
Zfp780b	C	T	7: 27,663,382 (GRCm39)	S391N	probably benign	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
R4577:Ankrd50	UTSW	3	38,510,090 (GRCm39)	missense	probably damaging	0.98
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
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'- CAAGCAGGGGCCATTTTAAG -3'
(R):5'- ACAGACGCCAGCTGAATCTC -3'

Sequencing Primer
(F):5'- AAGAGGAGTTAACAGTTTGGTTCC -3'
(R):5'- TCAGTGTAAAATCGTGGTCCC -3'

Posted On

2019-10-07