Mutagenetix > Incidental Mutation

Incidental Mutation 'R6003:Ankar'

478446

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

043252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72682139-72739738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72738046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 45 (E45D)

Ref Sequence

ENSEMBL: ENSMUSP00000148801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: E45D

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

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: E45D

Domain	Start	End	E-Value	Type
low complexity region	46	51	N/A	INTRINSIC
low complexity region	484	496	N/A	INTRINSIC
ANK	532	561	1.25e2	SMART
ANK	582	611	3.49e0	SMART
ANK	615	644	4.44e2	SMART
ANK	651	680	3.8e-1	SMART
ANK	684	714	9.87e0	SMART
ARM	744	784	5.96e-3	SMART
ARM	785	825	4.09e0	SMART
Blast:ARM	827	865	1e-15	BLAST
ARM	867	907	8.34e0	SMART
ARM	909	949	8.34e0	SMART
Blast:ARM	951	991	2e-13	BLAST
ARM	1034	1077	4.82e1	SMART
ARM	1084	1123	1.3e1	SMART
ARM	1257	1297	6.01e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000211837
AA Change: E45D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573

Predicted Effect

probably benign
Transcript: ENSMUST00000212710

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,312 (GRCm39)	E157G	probably benign	Het
Abcb11	T	C	2: 69,073,811 (GRCm39)	K1238R	probably benign	Het
Antxrl	G	T	14: 33,797,592 (GRCm39)	K522N	possibly damaging	Het
Ap1m1	A	G	8: 73,003,011 (GRCm39)	Y93C	probably damaging	Het
As3mt	C	T	19: 46,696,567 (GRCm39)	T35M	possibly damaging	Het
Aspg	T	C	12: 112,079,476 (GRCm39)	S85P	probably damaging	Het
Cachd1	T	C	4: 100,809,216 (GRCm39)	S234P	possibly damaging	Het
Ccdc3	T	C	2: 5,146,218 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,759 (GRCm39)	T16A	probably benign	Het
Cope	T	C	8: 70,757,285 (GRCm39)	L43P	probably benign	Het
E2f8	T	C	7: 48,520,525 (GRCm39)	M599V	probably benign	Het
Eif3a	A	T	19: 60,755,319 (GRCm39)	D954E	unknown	Het
Gfpt1	T	A	6: 87,065,230 (GRCm39)		probably null	Het
Ggps1	T	G	13: 14,228,587 (GRCm39)	S145R	probably benign	Het
Gon4l	A	G	3: 88,803,400 (GRCm39)	D1337G	probably damaging	Het
Gtf2a1l	G	T	17: 89,001,531 (GRCm39)	G82V	probably damaging	Het
Gucy1b1	C	A	3: 81,965,584 (GRCm39)	L87F	probably damaging	Het
Hoxc9	T	C	15: 102,890,311 (GRCm39)	V76A	probably benign	Het
Ints2	T	C	11: 86,129,294 (GRCm39)	E460G	probably damaging	Het
Kdm4b	C	T	17: 56,703,916 (GRCm39)	R756W	probably damaging	Het
Lax1	T	A	1: 133,611,834 (GRCm39)	I34F	probably benign	Het
Marveld3	A	T	8: 110,680,960 (GRCm39)	C312S	probably damaging	Het
Ncoa2	T	C	1: 13,237,254 (GRCm39)	D824G	possibly damaging	Het
Nrxn2	C	A	19: 6,548,358 (GRCm39)	A17D	possibly damaging	Het
Nup133	A	T	8: 124,665,031 (GRCm39)	I220N	probably damaging	Het
Nup205	T	C	6: 35,189,751 (GRCm39)	V984A	probably benign	Het
Nup54	A	T	5: 92,570,853 (GRCm39)	D318E	probably damaging	Het
Obp2a	A	T	2: 25,591,151 (GRCm39)	K94N	probably damaging	Het
Or2ak5	A	T	11: 58,611,196 (GRCm39)	I226N	probably benign	Het
Or5b3	T	C	19: 13,388,403 (GRCm39)	S157P	probably benign	Het
Pappa2	T	C	1: 158,763,820 (GRCm39)	I564V	probably benign	Het
Parpbp	A	G	10: 87,969,020 (GRCm39)	V142A	possibly damaging	Het
Rdh16f2	A	T	10: 127,712,201 (GRCm39)	R219S	probably benign	Het
Rfx6	C	T	10: 51,584,683 (GRCm39)	R228C	probably damaging	Het
Rpap2	A	G	5: 107,749,767 (GRCm39)		probably null	Het
Rskr	T	G	11: 78,183,846 (GRCm39)		probably null	Het
Slc15a2	T	C	16: 36,574,910 (GRCm39)	I531V	probably benign	Het
Srebf1	T	C	11: 60,097,930 (GRCm39)	E58G	possibly damaging	Het
Tmem214	C	A	5: 31,028,068 (GRCm39)	T96K	possibly damaging	Het
Usp19	T	C	9: 108,373,579 (GRCm39)	Y691H	probably damaging	Het
Vmn1r86	C	T	7: 12,836,125 (GRCm39)	W200*	probably null	Het
Vmn2r8	A	T	5: 108,945,248 (GRCm39)	S786R	probably damaging	Het
Vps52	T	A	17: 34,175,068 (GRCm39)	M1K	probably null	Het
Zzef1	T	A	11: 72,714,891 (GRCm39)		probably null	Het

Other mutations in Ankar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ankar	APN	1	72,729,290 (GRCm39)	missense	probably damaging	1.00
IGL01013:Ankar	APN	1	72,690,148 (GRCm39)	missense	possibly damaging	0.90
IGL01135:Ankar	APN	1	72,704,378 (GRCm39)	missense	probably benign	0.28
IGL01824:Ankar	APN	1	72,690,886 (GRCm39)	missense	probably benign	0.40
IGL01885:Ankar	APN	1	72,697,862 (GRCm39)	missense	probably damaging	1.00
IGL01932:Ankar	APN	1	72,738,146 (GRCm39)	missense	probably benign	0.25
IGL02143:Ankar	APN	1	72,697,808 (GRCm39)	critical splice donor site	probably null
IGL02326:Ankar	APN	1	72,705,514 (GRCm39)	missense	probably damaging	1.00
IGL02445:Ankar	APN	1	72,705,524 (GRCm39)	missense	probably benign	0.05
IGL02606:Ankar	APN	1	72,729,444 (GRCm39)	missense	possibly damaging	0.61
IGL02635:Ankar	APN	1	72,691,590 (GRCm39)	missense	possibly damaging	0.93
IGL02680:Ankar	APN	1	72,709,275 (GRCm39)	missense	probably damaging	1.00
IGL02704:Ankar	APN	1	72,691,502 (GRCm39)	missense	possibly damaging	0.88
IGL03086:Ankar	APN	1	72,682,437 (GRCm39)	missense	possibly damaging	0.84
IGL03269:Ankar	APN	1	72,704,360 (GRCm39)	missense	probably damaging	0.99
IGL03368:Ankar	APN	1	72,714,972 (GRCm39)	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72,695,323 (GRCm39)	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72,695,323 (GRCm39)	missense	probably damaging	1.00
R0488:Ankar	UTSW	1	72,697,891 (GRCm39)	missense	probably damaging	1.00
R0650:Ankar	UTSW	1	72,695,380 (GRCm39)	splice site	probably benign
R1121:Ankar	UTSW	1	72,690,822 (GRCm39)	splice site	probably null
R1163:Ankar	UTSW	1	72,727,864 (GRCm39)	missense	possibly damaging	0.82
R1300:Ankar	UTSW	1	72,682,323 (GRCm39)	missense	probably benign	0.00
R1309:Ankar	UTSW	1	72,713,163 (GRCm39)	missense	possibly damaging	0.59
R1366:Ankar	UTSW	1	72,737,808 (GRCm39)	missense	probably damaging	1.00
R1456:Ankar	UTSW	1	72,704,277 (GRCm39)	missense	probably benign	0.34
R1495:Ankar	UTSW	1	72,682,450 (GRCm39)	missense	probably benign
R1583:Ankar	UTSW	1	72,718,714 (GRCm39)	splice site	probably benign
R1635:Ankar	UTSW	1	72,689,297 (GRCm39)	missense	probably damaging	0.99
R1975:Ankar	UTSW	1	72,697,600 (GRCm39)	missense	possibly damaging	0.95
R2036:Ankar	UTSW	1	72,705,689 (GRCm39)	nonsense	probably null
R2511:Ankar	UTSW	1	72,697,853 (GRCm39)	missense	probably damaging	1.00
R2965:Ankar	UTSW	1	72,714,979 (GRCm39)	missense	probably benign	0.00
R3404:Ankar	UTSW	1	72,682,252 (GRCm39)	nonsense	probably null
R3417:Ankar	UTSW	1	72,698,135 (GRCm39)	critical splice donor site	probably null
R4072:Ankar	UTSW	1	72,727,751 (GRCm39)	missense	probably damaging	1.00
R4231:Ankar	UTSW	1	72,697,701 (GRCm39)	missense	probably benign	0.23
R4447:Ankar	UTSW	1	72,726,948 (GRCm39)	missense	possibly damaging	0.60
R4632:Ankar	UTSW	1	72,686,343 (GRCm39)	missense	probably benign	0.01
R4720:Ankar	UTSW	1	72,738,170 (GRCm39)	missense	possibly damaging	0.55
R4754:Ankar	UTSW	1	72,737,853 (GRCm39)	missense	probably damaging	1.00
R4884:Ankar	UTSW	1	72,737,966 (GRCm39)	missense	probably damaging	0.97
R5068:Ankar	UTSW	1	72,719,369 (GRCm39)	splice site	probably null
R5069:Ankar	UTSW	1	72,719,369 (GRCm39)	splice site	probably null
R5070:Ankar	UTSW	1	72,719,369 (GRCm39)	splice site	probably null
R5189:Ankar	UTSW	1	72,697,573 (GRCm39)	missense	probably benign	0.01
R5247:Ankar	UTSW	1	72,719,343 (GRCm39)	missense	probably benign	0.08
R5322:Ankar	UTSW	1	72,729,545 (GRCm39)	splice site	probably null
R5345:Ankar	UTSW	1	72,709,310 (GRCm39)	missense	possibly damaging	0.94
R5864:Ankar	UTSW	1	72,698,324 (GRCm39)	missense	probably benign	0.00
R5976:Ankar	UTSW	1	72,682,450 (GRCm39)	missense	probably benign
R6042:Ankar	UTSW	1	72,713,213 (GRCm39)	nonsense	probably null
R6296:Ankar	UTSW	1	72,682,417 (GRCm39)	missense	probably damaging	1.00
R6488:Ankar	UTSW	1	72,720,967 (GRCm39)	critical splice donor site	probably null
R6885:Ankar	UTSW	1	72,682,195 (GRCm39)	missense	unknown
R6985:Ankar	UTSW	1	72,697,641 (GRCm39)	missense	probably damaging	1.00
R7060:Ankar	UTSW	1	72,695,272 (GRCm39)	missense	probably benign	0.18
R7099:Ankar	UTSW	1	72,682,452 (GRCm39)	missense	probably damaging	0.99
R7194:Ankar	UTSW	1	72,698,192 (GRCm39)	missense	probably benign	0.32
R7221:Ankar	UTSW	1	72,689,390 (GRCm39)	missense	probably damaging	1.00
R7222:Ankar	UTSW	1	72,705,514 (GRCm39)	missense	probably damaging	0.99
R7258:Ankar	UTSW	1	72,690,886 (GRCm39)	missense	probably benign	0.40
R7303:Ankar	UTSW	1	72,698,192 (GRCm39)	missense	probably benign	0.32
R7308:Ankar	UTSW	1	72,690,953 (GRCm39)	nonsense	probably null
R7384:Ankar	UTSW	1	72,697,624 (GRCm39)	missense	probably benign	0.00
R7424:Ankar	UTSW	1	72,719,217 (GRCm39)	missense	probably damaging	1.00
R7464:Ankar	UTSW	1	72,738,053 (GRCm39)	missense	possibly damaging	0.94
R7525:Ankar	UTSW	1	72,727,800 (GRCm39)	missense	probably benign	0.18
R7618:Ankar	UTSW	1	72,714,925 (GRCm39)	missense	probably benign	0.22
R7659:Ankar	UTSW	1	72,729,294 (GRCm39)	missense	possibly damaging	0.95
R7974:Ankar	UTSW	1	72,738,138 (GRCm39)	nonsense	probably null
R8008:Ankar	UTSW	1	72,705,643 (GRCm39)	missense	possibly damaging	0.47
R8119:Ankar	UTSW	1	72,686,160 (GRCm39)	missense	probably damaging	0.98
R8244:Ankar	UTSW	1	72,690,183 (GRCm39)	missense	probably benign
R8342:Ankar	UTSW	1	72,691,619 (GRCm39)	missense	probably damaging	1.00
R8494:Ankar	UTSW	1	72,697,953 (GRCm39)	missense	probably benign	0.16
R8851:Ankar	UTSW	1	72,691,535 (GRCm39)	missense	probably damaging	1.00
R8970:Ankar	UTSW	1	72,691,496 (GRCm39)	critical splice donor site	probably null
R9228:Ankar	UTSW	1	72,713,210 (GRCm39)	missense	probably benign	0.27
R9511:Ankar	UTSW	1	72,719,161 (GRCm39)	missense	probably benign	0.23
R9577:Ankar	UTSW	1	72,721,067 (GRCm39)	missense	probably benign	0.02
R9612:Ankar	UTSW	1	72,704,294 (GRCm39)	missense	possibly damaging	0.65
R9647:Ankar	UTSW	1	72,689,307 (GRCm39)	missense	probably damaging	1.00
R9803:Ankar	UTSW	1	72,698,340 (GRCm39)	missense	possibly damaging	0.47
Z1176:Ankar	UTSW	1	72,729,120 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTTAAGATCTGATGGACTTCCCTGTAG -3'
(R):5'- AAGCCAACTTCCTTGCCATG -3'

Sequencing Primer
(F):5'- ACTTCCCTGTAGTCTAAGAGGGC -3'
(R):5'- CCTTGCCATGACAAATATTACTGC -3'

Posted On

2017-06-26