Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Ankrd55'

550783

Institutional Source

Beutler Lab

Gene Symbol

Ankrd55

Ensembl Gene

ENSMUSG00000049985

Gene Name

ankyrin repeat domain 55

Synonyms

C030011J08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112288451-112384002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112356110 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 272 (K272E)

Ref Sequence

ENSEMBL: ENSMUSP00000129726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000165593] [ENSMUST00000168684]

AlphaFold

Q8BLD6

Predicted Effect

probably benign
Transcript: ENSMUST00000022275

SMART Domains

Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985

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

SMART Domains

Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985

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

probably benign
Transcript: ENSMUST00000168684
AA Change: K272E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129726
Gene: ENSMUSG00000049985
AA Change: K272E

Domain	Start	End	E-Value	Type
Blast:ANK	25	54	9e-10	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

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably 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
R4846:Ankrd55	UTSW	13	112363454	missense	probably benign	0.00
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
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'- TGTGCTCCATCATTCTGAGC -3'
(R):5'- TGCCTGTGTTCAGTGGAAAG -3'

Sequencing Primer
(F):5'- CCATCATTCTGAGCCATCGG -3'
(R):5'- AATCTGACAGCGCTGTAGTC -3'

Posted On

2019-05-15