Mutagenetix > Incidental Mutation

Incidental Mutation 'R6595:Ankrd54'

524895

Institutional Source

Beutler Lab

Gene Symbol

Ankrd54

Ensembl Gene

ENSMUSG00000033055

Gene Name

ankyrin repeat domain 54

Synonyms

Liar, C730048E16Rik

MMRRC Submission

044719-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.812) question?

Stock #

R6595 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

78937294-78947093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78942185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 148 (F148L)

Ref Sequence

ENSEMBL: ENSMUSP00000047042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040676] [ENSMUST00000151889] [ENSMUST00000153003]

AlphaFold

Q91WK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040676
AA Change: F148L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047042
Gene: ENSMUSG00000033055
AA Change: F148L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
ANK	108	137	1.19e3	SMART
ANK	141	170	1.69e-7	SMART
ANK	174	203	3.01e-4	SMART
ANK	207	243	1.06e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133541

Predicted Effect

probably benign
Transcript: ENSMUST00000151889

SMART Domains

Protein: ENSMUSP00000114322
Gene: ENSMUSG00000033055

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
ANK	108	137	8.62e1	SMART
ANK	141	174	2.03e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153003

SMART Domains

Protein: ENSMUSP00000117852
Gene: ENSMUSG00000033055

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156411

SMART Domains

Protein: ENSMUSP00000119739
Gene: ENSMUSG00000033055

Domain	Start	End	E-Value	Type
Blast:ANK	9	45	6e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229322

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,993,710 (GRCm39)	Y1310F	probably benign	Het
Bag4	C	T	8: 26,259,528 (GRCm39)	D224N	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk2b	A	T	11: 5,942,856 (GRCm39)	H126Q	probably damaging	Het
Camsap3	G	T	8: 3,654,186 (GRCm39)	V608L	probably damaging	Het
Camsap3	A	T	8: 3,658,742 (GRCm39)	M796L	probably damaging	Het
Cdh19	T	C	1: 110,853,517 (GRCm39)	D308G	probably benign	Het
Cfap299	A	T	5: 98,949,717 (GRCm39)	D217V	possibly damaging	Het
Cpsf1	T	C	15: 76,486,710 (GRCm39)	I275M	probably damaging	Het
Cuta	A	G	17: 27,157,856 (GRCm39)		probably null	Het
Dclk2	A	G	3: 86,699,374 (GRCm39)		probably benign	Het
Dst	T	G	1: 34,289,761 (GRCm39)	L784R	probably damaging	Het
Fbn1	T	C	2: 125,184,750 (GRCm39)	M1681V	possibly damaging	Het
Fbxo9	A	T	9: 77,994,494 (GRCm39)	D274E	probably damaging	Het
Frem2	T	A	3: 53,457,205 (GRCm39)	D2049V	probably damaging	Het
Fscn3	T	C	6: 28,430,174 (GRCm39)	Y115H	probably damaging	Het
Glp2r	G	T	11: 67,655,603 (GRCm39)	D46E	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Irx5	A	G	8: 93,086,247 (GRCm39)	Y110C	probably damaging	Het
Kdm5d	T	C	Y: 939,829 (GRCm39)	S994P	probably benign	Homo
Klhl2	A	T	8: 65,196,077 (GRCm39)	C555*	probably null	Het
Krtap4-7	A	T	11: 99,534,560 (GRCm39)	I101N	unknown	Het
Or13a27	A	G	7: 139,925,560 (GRCm39)	L114P	probably damaging	Het
Or4f57	A	T	2: 111,790,515 (GRCm39)	V301E	possibly damaging	Het
Pcdhb21	T	C	18: 37,648,961 (GRCm39)	S697P	probably damaging	Het
Pramel27	T	C	4: 143,579,326 (GRCm39)	C304R	probably damaging	Het
Rasgrf2	A	T	13: 92,167,361 (GRCm39)	H237Q	probably damaging	Het
Rnf216	A	T	5: 143,076,412 (GRCm39)	D157E	probably benign	Het
Rxrg	T	A	1: 167,454,905 (GRCm39)	F163I	probably damaging	Het
Soat2	T	A	15: 102,069,028 (GRCm39)	I351N	probably damaging	Het
Srp72	C	T	5: 77,132,047 (GRCm39)	T242I	probably benign	Het
Svopl	T	C	6: 38,018,002 (GRCm39)		probably null	Het
Tbc1d2b	G	A	9: 90,108,145 (GRCm39)	P469S	probably benign	Het
Tbkbp1	G	A	11: 97,029,578 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,295,523 (GRCm39)	V324A	probably damaging	Het
Twnk	T	C	19: 44,998,931 (GRCm39)	V557A	probably damaging	Het
Vmn2r18	G	A	5: 151,485,889 (GRCm39)	T535I	probably damaging	Het
Zc3h14	T	A	12: 98,723,285 (GRCm39)	S85T	probably damaging	Het

Other mutations in Ankrd54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0883:Ankrd54	UTSW	15	78,946,931 (GRCm39)	missense	probably damaging	1.00
R4352:Ankrd54	UTSW	15	78,939,662 (GRCm39)	missense	probably benign	0.20
R4688:Ankrd54	UTSW	15	78,938,782 (GRCm39)	missense	probably damaging	1.00
R5662:Ankrd54	UTSW	15	78,946,814 (GRCm39)	missense	possibly damaging	0.83
R7060:Ankrd54	UTSW	15	78,939,739 (GRCm39)	missense	possibly damaging	0.94
R7830:Ankrd54	UTSW	15	78,938,250 (GRCm39)	missense	probably damaging	1.00
R8117:Ankrd54	UTSW	15	78,939,641 (GRCm39)	missense
R8221:Ankrd54	UTSW	15	78,940,270 (GRCm39)	missense	probably damaging	0.99
R9258:Ankrd54	UTSW	15	78,946,996 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAGGTTTGACCAGAGCTAG -3'
(R):5'- AACTGTGGATGGCTCATCTGG -3'

Sequencing Primer
(F):5'- TTTGACCAGAGCTAGCAGAGGTTC -3'
(R):5'- ATCTGGAGGGGCCCTTGAG -3'

Posted On

2018-06-22