Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Ankar'

735293

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72682139-72739738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72698340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 905 (V905I)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: V905I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V905I

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: V904I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: V687I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,841,964 (GRCm39)	S52P	unknown	Het
Ank2	A	G	3: 126,752,726 (GRCm39)	M330T	possibly damaging	Het
Anln	G	T	9: 22,283,518 (GRCm39)	D438E	probably damaging	Het
C1ql3	T	C	2: 13,009,200 (GRCm39)	N215S	probably damaging	Het
Ccdc110	A	G	8: 46,395,626 (GRCm39)	S506G	probably benign	Het
Ccdc87	A	G	19: 4,891,175 (GRCm39)	T556A	probably benign	Het
Cma1	A	T	14: 56,179,186 (GRCm39)	N236K	probably benign	Het
Csmd2	T	C	4: 128,262,986 (GRCm39)	F724S		Het
Cts8	T	C	13: 61,401,136 (GRCm39)	K130R	possibly damaging	Het
Daam1	A	T	12: 71,990,922 (GRCm39)	T179S	unknown	Het
Fancd2os	T	C	6: 113,574,938 (GRCm39)	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,394,866 (GRCm39)	I168N	probably damaging	Het
Gckr	G	A	5: 31,457,368 (GRCm39)	G127D	probably damaging	Het
Gm11444	G	A	11: 85,737,699 (GRCm39)	Q164*	probably null	Het
Gm28042	T	A	2: 119,868,984 (GRCm39)	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,068,722 (GRCm39)	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,499,247 (GRCm39)	H198Q	possibly damaging	Het
Hps6	T	A	19: 45,993,947 (GRCm39)	L628*	probably null	Het
Igha	G	A	12: 113,222,759 (GRCm39)	H221Y		Het
Ighm	A	G	12: 113,382,635 (GRCm39)	S453P		Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Lfng	A	G	5: 140,593,528 (GRCm39)	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,199 (GRCm39)	A172T	probably benign	Het
Lrrc56	A	G	7: 140,787,520 (GRCm39)	T386A	probably benign	Het
Mapkbp1	A	T	2: 119,841,256 (GRCm39)	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrto4	T	A	4: 139,076,381 (GRCm39)	N70I	probably damaging	Het
Mxra8	C	T	4: 155,924,282 (GRCm39)		probably benign	Het
Myo1h	A	G	5: 114,483,997 (GRCm39)	E548G		Het
Ncan	C	T	8: 70,560,751 (GRCm39)	D739N	probably benign	Het
Or2t45	T	C	11: 58,669,595 (GRCm39)	V214A	probably benign	Het
Oxgr1	T	C	14: 120,259,563 (GRCm39)	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,885,088 (GRCm39)	V86E	probably damaging	Het
Pclo	G	A	5: 14,762,629 (GRCm39)	V416M		Het
Phf3	G	T	1: 30,869,872 (GRCm39)	T392K	probably benign	Het
Pkhd1	A	T	1: 20,637,073 (GRCm39)	V379E	probably damaging	Het
Ppfia3	T	C	7: 44,990,539 (GRCm39)	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,729,217 (GRCm39)	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,658,416 (GRCm39)	D384E	probably benign	Het
Rergl	A	G	6: 139,477,761 (GRCm39)	F23L	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sidt2	A	G	9: 45,854,912 (GRCm39)	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,118,066 (GRCm39)	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,107,980 (GRCm39)	D474V	probably damaging	Het
Tenm4	G	A	7: 96,202,685 (GRCm39)	G100D	probably damaging	Het
Tmem258	G	A	19: 10,184,637 (GRCm39)	V75I	probably benign	Het
Tmem91	G	T	7: 25,369,988 (GRCm39)	H95N	probably damaging	Het
Trps1	T	C	15: 50,710,090 (GRCm39)	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,920,680 (GRCm39)	M209K	probably benign	Het
Tspan17	C	A	13: 54,941,092 (GRCm39)	Q124K	probably benign	Het
Uts2b	G	A	16: 27,179,692 (GRCm39)	R105*	probably null	Het
Vmn2r110	T	A	17: 20,803,730 (GRCm39)	T282S	probably benign	Het
Xdh	T	A	17: 74,229,455 (GRCm39)	M333L	probably benign	Het
Zbtb3	A	G	19: 8,781,833 (GRCm39)	E482G	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
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
Z1176:Ankar	UTSW	1	72,729,120 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTCTACCTGTAGAAGTTTTAGGAGG -3'
(R):5'- GCCAAGTATCTCTATAAGAAGCAAC -3'

Sequencing Primer
(F):5'- AGGAGGTCCTTAGTTAATTCTCTTTC -3'
(R):5'- GACAATCTAAATGATGAACCTGGAC -3'

Posted On

2022-11-14