Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Ankrd50'

214434

Institutional Source

Beutler Lab

Gene Symbol

Ankrd50

Ensembl Gene

ENSMUSG00000044864

Gene Name

ankyrin repeat domain 50

Synonyms

E430012K20Rik

MMRRC Submission

039926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38503408-38538993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 38508201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 1389 (P1389A)

Ref Sequence

ENSEMBL: ENSMUSP00000122842 (fasta)

Gene Model

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

AlphaFold

A6H6J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000094300
AA Change: P466A

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

SMART Domains

Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864
AA Change: P466A

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: P1389A

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

SMART Domains

Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: P1389A

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

0.1255

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,862,661 (GRCm39)	S206R	probably damaging	Het
Abcc6	G	T	7: 45,663,593 (GRCm39)	A357E	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Actrt3	A	G	3: 30,652,716 (GRCm39)	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,740,670 (GRCm39)		probably benign	Het
Alyref2	A	G	1: 171,331,838 (GRCm39)	D205G	probably damaging	Het
Amigo3	G	A	9: 107,930,835 (GRCm39)	R86Q	probably benign	Het
Aoah	A	G	13: 21,094,264 (GRCm39)	D183G	probably damaging	Het
Arap3	A	T	18: 38,129,724 (GRCm39)	S146T	probably benign	Het
Atp2c2	T	C	8: 120,476,615 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,853,583 (GRCm39)	V682M	probably benign	Het
Cacna1i	T	C	15: 80,259,465 (GRCm39)	I1245T	probably damaging	Het
Card14	A	G	11: 119,222,085 (GRCm39)	N460S	probably benign	Het
Ceacam5	A	G	7: 17,486,309 (GRCm39)	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,738,121 (GRCm39)	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,285,566 (GRCm39)	D115G	probably benign	Het
Dbp	C	T	7: 45,357,744 (GRCm39)	T67I	possibly damaging	Het
Dennd5b	C	T	6: 148,943,074 (GRCm39)	V601I	probably benign	Het
Dnah11	G	A	12: 118,091,291 (GRCm39)	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,571,193 (GRCm39)	D27V	probably damaging	Het
Drd1	A	T	13: 54,207,271 (GRCm39)	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,651,778 (GRCm39)	G277D	probably damaging	Het
Eif4g3	C	T	4: 137,885,726 (GRCm39)	R842W	probably damaging	Het
Enam	C	T	5: 88,652,481 (GRCm39)	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,486,994 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,620,010 (GRCm39)	L289*	probably null	Het
Fhip1a	T	C	3: 85,579,940 (GRCm39)	D755G	probably benign	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Gad1	C	T	2: 70,409,482 (GRCm39)	S191F	possibly damaging	Het
Gcm1	A	C	9: 77,972,055 (GRCm39)	N332T	probably benign	Het
Gin1	G	A	1: 97,703,172 (GRCm39)		probably benign	Het
Gpr25	T	C	1: 136,188,538 (GRCm39)	D25G	probably benign	Het
Gstm4	T	C	3: 107,948,593 (GRCm39)	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,342,758 (GRCm39)		probably null	Het
Il12rb2	T	A	6: 67,272,270 (GRCm39)	K339*	probably null	Het
Inpp1	A	G	1: 52,828,829 (GRCm39)	*397Q	probably null	Het
Kcp	G	T	6: 29,497,834 (GRCm39)		probably benign	Het
Kdm1b	G	A	13: 47,217,596 (GRCm39)	V352I	probably benign	Het
Klhdc2	G	T	12: 69,343,734 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lag3	T	A	6: 124,886,450 (GRCm39)	I168F	possibly damaging	Het
Lama4	T	G	10: 38,948,754 (GRCm39)	V839G	probably benign	Het
Lmtk2	G	T	5: 144,111,928 (GRCm39)	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,347,982 (GRCm39)	K2904N	unknown	Het
Macf1	A	T	4: 123,266,192 (GRCm39)	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,823,055 (GRCm39)	S3A	possibly damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mettl2	T	G	11: 105,017,666 (GRCm39)	S59A	probably benign	Het
Mtr	G	A	13: 12,240,418 (GRCm39)	T530I	probably damaging	Het
Myo7b	A	T	18: 32,110,052 (GRCm39)	C1137S	possibly damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncstn	A	T	1: 171,899,710 (GRCm39)	V324E	probably damaging	Het
Ndufaf7	C	A	17: 79,249,546 (GRCm39)	H148N	possibly damaging	Het
Or10a49	T	A	7: 108,467,705 (GRCm39)	I219F	possibly damaging	Het
Or52a24	T	A	7: 103,381,190 (GRCm39)	I19N	probably damaging	Het
Or52n2b	G	A	7: 104,566,272 (GRCm39)	T77I	probably damaging	Het
Or7g12	T	C	9: 18,899,737 (GRCm39)	I151T	possibly damaging	Het
Or8b12	T	G	9: 37,657,729 (GRCm39)	L100V	probably benign	Het
Or8k17	T	C	2: 86,066,454 (GRCm39)	K242E	possibly damaging	Het
Pcdh20	T	C	14: 88,706,140 (GRCm39)	I387V	probably benign	Het
Pclo	A	G	5: 14,728,525 (GRCm39)		probably benign	Het
Pcp2	G	A	8: 3,674,904 (GRCm39)		probably benign	Het
Pde1a	T	A	2: 79,698,651 (GRCm39)	D393V	probably damaging	Het
Pias4	T	C	10: 80,990,197 (GRCm39)	D421G	possibly damaging	Het
Pign	T	C	1: 105,565,940 (GRCm39)	T362A	possibly damaging	Het
Pik3c2g	A	C	6: 139,789,768 (GRCm39)	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,634,672 (GRCm39)	W568R	probably damaging	Het
Pld2	T	A	11: 70,435,010 (GRCm39)	I306N	probably damaging	Het
Plppr3	T	C	10: 79,709,903 (GRCm39)	K9R	probably damaging	Het
Pramel11	T	A	4: 143,622,061 (GRCm39)	R431S	possibly damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptbp2	A	T	3: 119,555,398 (GRCm39)	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,728,575 (GRCm39)	D2074G	probably null	Het
Rab34	T	A	11: 78,082,081 (GRCm39)	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,472,880 (GRCm39)	R519S	probably benign	Het
Rasa1	A	T	13: 85,374,691 (GRCm39)	L218*	probably null	Het
Reln	A	G	5: 22,249,960 (GRCm39)		probably null	Het
Rer1	T	C	4: 155,162,956 (GRCm39)	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Samd3	T	A	10: 26,147,754 (GRCm39)	C476*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc27a2	A	G	2: 126,428,262 (GRCm39)	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,149,279 (GRCm39)	T7A	probably benign	Het
Slco4c1	C	T	1: 96,770,224 (GRCm39)	G280D	probably damaging	Het
Snx19	T	A	9: 30,344,872 (GRCm39)	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,183,690 (GRCm39)	M411V	probably benign	Het
Spice1	T	A	16: 44,178,193 (GRCm39)	L72*	probably null	Het
Stard9	G	T	2: 120,544,293 (GRCm39)	V4471L	probably damaging	Het
Syt14	A	G	1: 192,584,143 (GRCm39)	L707P	probably damaging	Het
Tab1	T	C	15: 80,037,869 (GRCm39)	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tbx4	T	A	11: 85,805,349 (GRCm39)	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,257,093 (GRCm39)	R263Q	probably benign	Het
Ttn	T	C	2: 76,701,200 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,489 (GRCm39)	Q226L	probably benign	Het
Ush2a	C	T	1: 188,447,261 (GRCm39)	S2483L	probably benign	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,051,636 (GRCm39)	T207I	probably benign	Het
Ythdc1	A	G	5: 86,978,489 (GRCm39)	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,694,385 (GRCm39)	E28K	possibly damaging	Het
Zfp931	A	T	2: 177,711,684 (GRCm39)	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,112,423 (GRCm39)	M415R	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
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
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'- CGATCCTGTGTTATGCAAGTGC -3'
(R):5'- AATGGGATAATGACGAACCCC -3'

Sequencing Primer
(F):5'- CAAGTGCTTTGGATAGGTGC -3'
(R):5'- TGGGATAATGACGAACCCCAATTAC -3'

Posted On

2014-07-14