Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Ankrd50'

490293

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 #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38503408-38538993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38509988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 793 (V793A)

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: V793A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: V793A

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,888,005 (GRCm39)	C127F	unknown	Het
9930111J21Rik2	A	T	11: 48,910,088 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,918,393 (GRCm39)	L676*	probably null	Het
Adgrv1	A	T	13: 81,567,378 (GRCm39)	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Akap6	T	A	12: 53,189,141 (GRCm39)	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Arid2	T	A	15: 96,266,558 (GRCm39)	N535K	probably benign	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Bbof1	C	T	12: 84,473,588 (GRCm39)	T306I	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,275,131 (GRCm39)	A351S	probably benign	Het
Cetn3	A	C	13: 81,940,097 (GRCm39)	R44S	probably damaging	Het
Cluap1	A	G	16: 3,746,425 (GRCm39)	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,004,731 (GRCm39)	V94I	probably null	Het
Cog6	A	T	3: 52,914,722 (GRCm39)	S245T	probably benign	Het
Disp2	T	A	2: 118,622,031 (GRCm39)	V921D	probably damaging	Het
Entrep2	G	A	7: 64,409,147 (GRCm39)	P416S	probably benign	Het
Ep400	T	C	5: 110,889,863 (GRCm39)	K504E	possibly damaging	Het
Fbn1	T	A	2: 125,177,409 (GRCm39)		probably null	Het
Fyb2	T	C	4: 104,857,713 (GRCm39)	V630A	probably benign	Het
Gm43218	T	A	6: 70,217,606 (GRCm39)	Y50F	probably benign	Het
Gm5431	T	C	11: 48,779,402 (GRCm39)	T507A	probably benign	Het
Gucy2e	G	T	11: 69,126,930 (GRCm39)	A181E	probably benign	Het
Hrnr	C	G	3: 93,233,062 (GRCm39)	S1100*	probably null	Het
Htt	T	C	5: 35,064,817 (GRCm39)	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,575,918 (GRCm39)	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,579,577 (GRCm39)	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,778,598 (GRCm39)	F417S	probably benign	Het
Itgb4	T	C	11: 115,885,102 (GRCm39)	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,897,790 (GRCm39)	A24T	probably benign	Het
Itpr1	T	C	6: 108,346,077 (GRCm39)	F127L	probably damaging	Het
Itprid2	T	G	2: 79,475,406 (GRCm39)	I455R	probably damaging	Het
Krt86	A	G	15: 101,374,170 (GRCm39)	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,838,230 (GRCm39)	W11R	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mettl3	A	G	14: 52,536,214 (GRCm39)	V210A	possibly damaging	Het
Mllt1	T	C	17: 57,206,822 (GRCm39)	T341A	probably benign	Het
Obscn	T	C	11: 58,891,325 (GRCm39)	E7069G	unknown	Het
Or1e27-ps1	A	T	11: 73,556,160 (GRCm39)	T242S	possibly damaging	Het
Or52b4	T	C	7: 102,184,479 (GRCm39)	I175T	probably benign	Het
Osgep	A	G	14: 51,157,209 (GRCm39)	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,347,675 (GRCm39)	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,350,443 (GRCm39)	E197V	probably null	Het
Pkn1	G	A	8: 84,407,835 (GRCm39)	Q425*	probably null	Het
Pramel22	T	C	4: 143,380,685 (GRCm39)	Y446C	probably benign	Het
Prss35	T	C	9: 86,637,491 (GRCm39)	I87T	probably benign	Het
Psmc3	T	C	2: 90,888,184 (GRCm39)	F304S	probably damaging	Het
Psmd11	T	A	11: 80,351,539 (GRCm39)	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,292,385 (GRCm39)	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,428,894 (GRCm39)	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,848,913 (GRCm39)	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,405,044 (GRCm39)	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,562,388 (GRCm39)	V255A	probably damaging	Het
Smc3	T	A	19: 53,622,517 (GRCm39)	N697K	probably benign	Het
Snai1	C	A	2: 167,380,831 (GRCm39)	P108Q	probably benign	Het
Stim2	T	G	5: 54,276,021 (GRCm39)	L732R	probably damaging	Het
Syde1	A	G	10: 78,421,938 (GRCm39)	L597S	probably damaging	Het
Tcte1	T	A	17: 45,845,996 (GRCm39)	M200K	probably benign	Het
Tenm2	T	A	11: 36,030,517 (GRCm39)	T761S	probably damaging	Het
Thoc2l	T	A	5: 104,666,262 (GRCm39)	N261K	probably benign	Het
Tlr2	C	A	3: 83,745,455 (GRCm39)	E209D	probably benign	Het
Tpp2	T	C	1: 44,022,739 (GRCm39)	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,304,704 (GRCm39)		probably benign	Het
Unc45a	A	C	7: 79,978,511 (GRCm39)	S646A	possibly damaging	Het
Usp37	A	T	1: 74,534,910 (GRCm39)	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,104,382 (GRCm39)	V335A	probably benign	Het
Wwc2	A	T	8: 48,311,878 (GRCm39)	S762T	unknown	Het
Yeats2	A	G	16: 20,038,417 (GRCm39)	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,251,558 (GRCm39)	V198A	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
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'- ATTTGTTCTCCAGCAGGATCTG -3'
(R):5'- GGAGCAGATGTCGATCACAC -3'

Sequencing Primer
(F):5'- GGATCTGTACACAGTCATAATGGCC -3'
(R):5'- GCAGATGTCGATCACACCGATAAC -3'

Posted On

2017-10-10