Mutagenetix > Incidental Mutation

Incidental Mutation 'R8494:Ankar'

658168

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

067936-MU

Accession Numbers

Essential gene?

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

Stock #

R8494 (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 C at 72697953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 758 (I758V)

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably benign
Transcript: ENSMUST00000053499
AA Change: I976V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I976V

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 benign
Transcript: ENSMUST00000211837
AA Change: I975V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: I758V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,327,821 (GRCm39)	M1420L	probably benign	Het
Adamts14	T	A	10: 61,038,708 (GRCm39)	H934L	probably benign	Het
Adamtsl1	T	C	4: 86,240,221 (GRCm39)	C661R	probably damaging	Het
Akap5	A	G	12: 76,376,455 (GRCm39)	D629G	probably benign	Het
Anapc16	A	T	10: 59,832,340 (GRCm39)		probably benign	Het
Apc2	G	T	10: 80,150,313 (GRCm39)	R1760L	probably damaging	Het
C1qb	T	C	4: 136,608,115 (GRCm39)	T83A	probably benign	Het
Canx	T	A	11: 50,202,609 (GRCm39)		probably null	Het
Cblb	T	A	16: 52,025,003 (GRCm39)	I966K	probably damaging	Het
Crocc2	A	T	1: 93,144,788 (GRCm39)	Q1444L	probably damaging	Het
Dennd4c	C	T	4: 86,759,312 (GRCm39)	P1781S	probably damaging	Het
Diaph3	T	C	14: 87,274,958 (GRCm39)	Y166C	probably benign	Het
Dnah5	A	C	15: 28,345,977 (GRCm39)	N2439T	probably benign	Het
Dsg3	T	A	18: 20,673,271 (GRCm39)	Y981N	probably benign	Het
Esrp2	C	T	8: 106,861,350 (GRCm39)	V150M	probably damaging	Het
Fbxo15	T	G	18: 84,982,252 (GRCm39)	F235V	probably damaging	Het
Ffar2	A	T	7: 30,519,164 (GRCm39)	Y125*	probably null	Het
Gm1110	T	A	9: 26,792,154 (GRCm39)	D622V	probably benign	Het
Gpcpd1	A	G	2: 132,386,355 (GRCm39)	V341A	probably damaging	Het
Gpx3	G	A	11: 54,793,846 (GRCm39)	V19I	probably benign	Het
Hadha	T	C	5: 30,347,810 (GRCm39)	I160M	probably damaging	Het
Igkv3-4	G	T	6: 70,649,147 (GRCm39)	V49F	probably damaging	Het
Kcng1	A	G	2: 168,105,018 (GRCm39)	V276A	probably damaging	Het
Kif7	A	T	7: 79,360,145 (GRCm39)	V364D	probably benign	Het
Kirrel3	A	G	9: 34,902,341 (GRCm39)	I182V	probably benign	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Mcm9	G	A	10: 53,501,856 (GRCm39)	T243M	possibly damaging	Het
Micall1	T	C	15: 79,005,080 (GRCm39)	L184P	probably damaging	Het
Mief1	T	A	15: 80,133,593 (GRCm39)	C217S	probably benign	Het
Mier2	T	C	10: 79,377,546 (GRCm39)	D469G	probably damaging	Het
Mst1r	T	G	9: 107,791,718 (GRCm39)	W799G	possibly damaging	Het
Mybpc1	C	T	10: 88,362,291 (GRCm39)	V950I	probably benign	Het
Neurl4	A	G	11: 69,801,871 (GRCm39)	D1296G	probably benign	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Parg	T	A	14: 31,930,978 (GRCm39)	H199Q	probably benign	Het
Pcnx3	C	A	19: 5,725,404 (GRCm39)	D1170Y	probably damaging	Het
Phactr1	T	A	13: 43,250,144 (GRCm39)	V487E	probably damaging	Het
Selp	T	G	1: 163,957,835 (GRCm39)		probably null	Het
Smpd3	T	C	8: 106,981,982 (GRCm39)	E626G	probably damaging	Het
Syn3	A	G	10: 86,190,265 (GRCm39)	L188P	probably damaging	Het
Tle1	T	C	4: 72,043,241 (GRCm39)	I543V	possibly damaging	Het
Trp53rkb	A	G	2: 166,637,779 (GRCm39)	*245W	probably null	Het
Ttc28	A	G	5: 111,383,506 (GRCm39)	R1336G	probably damaging	Het
Vps13b	T	A	15: 35,422,594 (GRCm39)	W185R	probably damaging	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
R6003:Ankar	UTSW	1	72,738,046 (GRCm39)	missense	probably damaging	1.00
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
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'- GGTGTGGACTTCAGTGTCTACTAC -3'
(R):5'- GGTGCAATGGCTGTGGAATC -3'

Sequencing Primer
(F):5'- GACTTCAGTGTCTACTACATCAGCAG -3'
(R):5'- CTGTGGAATCACTGGCAAACTGC -3'

Posted On

2021-01-18