Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Ankrd55'

372188

Institutional Source

Beutler Lab

Gene Symbol

Ankrd55

Ensembl Gene

ENSMUSG00000049985

Gene Name

ankyrin repeat domain 55

Synonyms

C030011J08Rik

MMRRC Submission

042459-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4846 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

112288451-112384002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 112363454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 278 (E278D)

Ref Sequence

ENSEMBL: ENSMUSP00000022275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000165593]

AlphaFold

Q8BLD6

Predicted Effect

probably benign
Transcript: ENSMUST00000022275
AA Change: E278D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: E278D

Domain	Start	End	E-Value	Type
Blast:ANK	25	54	1e-9	BLAST
ANK	59	88	7.64e-6	SMART
ANK	92	121	4.18e2	SMART
ANK	125	156	4.86e1	SMART
ANK	160	189	5.32e-5	SMART
ANK	193	222	7.59e-1	SMART
ANK	229	257	2.97e2	SMART
ANK	263	292	5.71e-5	SMART
ANK	296	326	1.63e0	SMART
low complexity region	528	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165593
AA Change: E250D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: E250D

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	8e-8	BLAST
ANK	31	60	7.64e-6	SMART
ANK	64	93	4.18e2	SMART
ANK	97	128	4.86e1	SMART
ANK	132	161	5.32e-5	SMART
ANK	165	194	7.59e-1	SMART
ANK	201	229	2.97e2	SMART
ANK	235	264	5.71e-5	SMART
ANK	268	298	1.63e0	SMART
low complexity region	500	515	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224393

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,233	D591G	probably benign	Het
9930012K11Rik	T	A	14: 70,155,943	H299L	probably damaging	Het
Abcb4	C	T	5: 8,935,180	A687V	probably benign	Het
Adam20	A	G	8: 40,795,011	T53A	probably benign	Het
Afg1l	G	A	10: 42,454,494	T59I	probably benign	Het
AI837181	A	G	19: 5,426,301	Q164R	probably benign	Het
Anapc15	T	A	7: 101,897,767	I12N	probably benign	Het
Axin2	A	G	11: 108,942,299	T437A	probably benign	Het
BC051665	T	C	13: 60,784,081	D168G	probably damaging	Het
Btbd11	A	G	10: 85,629,266	T657A	probably damaging	Het
Cd200	C	T	16: 45,392,301	R261H	probably benign	Het
Clk1	G	A	1: 58,421,102	S123L	probably benign	Het
Csrnp2	A	T	15: 100,484,690	D156E	probably damaging	Het
Ctss	C	T	3: 95,545,384	Q159*	probably null	Het
Dip2a	A	G	10: 76,321,493	S93P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,616,809	R542Q	probably benign	Het
Fmo3	T	C	1: 162,954,311	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,536,893	M140K	probably benign	Het
Ghsr	T	C	3: 27,371,837	V14A	probably benign	Het
Gm17546	C	A	15: 95,829,962		probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hc	A	G	2: 35,019,670	V866A	probably benign	Het
Hoxb6	G	A	11: 96,299,522	G116R	probably damaging	Het
Hykk	A	G	9: 54,920,606	Y43C	probably damaging	Het
Jade2	T	C	11: 51,821,148	T495A	probably benign	Het
Kansl1	A	T	11: 104,342,972	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,479,113	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,256,997	N406K	probably damaging	Het
Met	A	T	6: 17,491,929	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,482,836	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,808,536	T112A	possibly damaging	Het
Nek11	T	A	9: 105,163,163	E566D	probably damaging	Het
Nostrin	T	C	2: 69,175,579	S235P	probably damaging	Het
Npas4	C	A	19: 4,986,777	S453I	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Psg18	A	T	7: 18,350,786	Y128*	probably null	Het
Ptges3l	A	T	11: 101,419,184		probably benign	Het
Pus1	T	C	5: 110,779,930		probably benign	Het
Raf1	T	A	6: 115,644,583	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 88,806,578		noncoding transcript	Het
Slc5a4b	A	G	10: 76,062,239	L547P	probably damaging	Het
Socs3	A	G	11: 117,967,828	S135P	probably benign	Het
St5	C	A	7: 109,556,836	E236*	probably null	Het
Stra6l	G	A	4: 45,873,682	V281M	possibly damaging	Het
Suco	G	A	1: 161,834,408	T818I	possibly damaging	Het
Syde1	A	T	10: 78,588,897	V367D	probably damaging	Het
Tet3	A	T	6: 83,376,883	L932*	probably null	Het
Trpm7	G	A	2: 126,813,185	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,065	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,617,294	Q92R	possibly damaging	Het

Other mutations in Ankrd55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ankrd55	APN	13	112367794	missense	probably benign	0.01
IGL01372:Ankrd55	APN	13	112323143	missense	probably damaging	1.00
IGL01554:Ankrd55	APN	13	112323067	missense	possibly damaging	0.87
IGL01700:Ankrd55	APN	13	112381168	missense	probably benign	0.16
IGL02366:Ankrd55	APN	13	112318460	missense	probably damaging	1.00
IGL03368:Ankrd55	APN	13	112318556	splice site	probably benign
crescat	UTSW	13	112348863	critical splice donor site	probably null
Scientiam	UTSW	13	112355963	missense	probably damaging	0.99
I0000:Ankrd55	UTSW	13	112348725	splice site	probably benign
R0547:Ankrd55	UTSW	13	112368223	missense	probably benign	0.03
R0781:Ankrd55	UTSW	13	112381233	splice site	probably benign
R0981:Ankrd55	UTSW	13	112323076	missense	possibly damaging	0.78
R1072:Ankrd55	UTSW	13	112348842	missense	possibly damaging	0.83
R1469:Ankrd55	UTSW	13	112367926	missense	probably benign	0.39
R1469:Ankrd55	UTSW	13	112367926	missense	probably benign	0.39
R2187:Ankrd55	UTSW	13	112383505	missense	probably benign	0.01
R4430:Ankrd55	UTSW	13	112323183	critical splice donor site	probably null
R4753:Ankrd55	UTSW	13	112363475	missense	probably benign
R4911:Ankrd55	UTSW	13	112323039	splice site	probably null
R4996:Ankrd55	UTSW	13	112356088	missense	possibly damaging	0.68
R5007:Ankrd55	UTSW	13	112367932	missense	probably benign
R5077:Ankrd55	UTSW	13	112355988	missense	probably benign	0.19
R5118:Ankrd55	UTSW	13	112355939	missense	probably benign	0.00
R5350:Ankrd55	UTSW	13	112336226	missense	probably damaging	1.00
R5367:Ankrd55	UTSW	13	112318502	missense	probably damaging	1.00
R5560:Ankrd55	UTSW	13	112383490	missense	probably benign
R5888:Ankrd55	UTSW	13	112355919	missense	possibly damaging	0.62
R6130:Ankrd55	UTSW	13	112318446	missense	probably damaging	1.00
R6589:Ankrd55	UTSW	13	112348863	critical splice donor site	probably null
R6994:Ankrd55	UTSW	13	112368300	missense	probably benign	0.42
R7100:Ankrd55	UTSW	13	112356110	missense	probably benign	0.00
R7247:Ankrd55	UTSW	13	112336253	missense	probably damaging	0.97
R7340:Ankrd55	UTSW	13	112355963	missense	probably damaging	0.99
R7694:Ankrd55	UTSW	13	112367964	missense	probably damaging	1.00
R8053:Ankrd55	UTSW	13	112323153	missense	probably damaging	1.00
R8282:Ankrd55	UTSW	13	112323041	splice site	probably benign
R8529:Ankrd55	UTSW	13	112344136	missense	probably benign	0.05
R9059:Ankrd55	UTSW	13	112318539	missense	probably damaging	1.00
R9176:Ankrd55	UTSW	13	112323076	missense	possibly damaging	0.78
R9189:Ankrd55	UTSW	13	112368036	missense	probably damaging	1.00
R9332:Ankrd55	UTSW	13	112323143	missense	probably damaging	1.00
R9557:Ankrd55	UTSW	13	112348813	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGGGTCCATGTGCC -3'
(R):5'- GTATGCTAGATGACAGCAAGTGTAC -3'

Sequencing Primer
(F):5'- CCTGTTTCACACTGTGGATCTAAGG -3'
(R):5'- GCTTTGGAACTCACACTGAAAG -3'

Posted On

2016-03-01