Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Ankrd50'

434687

Institutional Source

Beutler Lab

Gene Symbol

Ankrd50

Ensembl Gene

ENSMUSG00000044864

Gene Name

ankyrin repeat domain 50

Synonyms

E430012K20Rik

MMRRC Submission

043092-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R5534 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

38503408-38538993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38510231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 712 (M712T)

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: M712T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: M712T

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: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Efemp1	T	C	11: 28,817,758 (GRCm39)	V79A	probably damaging	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5ac17	T	C	16: 59,036,403 (GRCm39)	D191G	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,698,619 (GRCm39)	G33W	probably damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Smg8	A	T	11: 86,976,296 (GRCm39)	D428E	probably benign	Het
Snrpe	A	T	1: 133,534,211 (GRCm39)	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,109,559 (GRCm39)	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	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
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
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'- TGAGAACTGTTCTGCCTTCGC -3'
(R):5'- TATATGGGCCACAGAGAGATCG -3'

Sequencing Primer
(F):5'- TGTCGATGCTGTCCACGG -3'
(R):5'- GGCCACAGAGAGATCGTAGAG -3'

Posted On

2016-10-24