Mutagenetix > Incidental Mutation

Incidental Mutation 'R4884:Ankar'

375484

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

041978-MU

Accession Numbers

Essential gene?

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

Stock #

R4884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72698807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 72 (M72K)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: M72K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: M72K

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

possibly damaging
Transcript: ENSMUST00000211837
AA Change: M72K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573

Predicted Effect

probably benign
Transcript: ENSMUST00000212710

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,164,812 (GRCm38)	M417K	probably damaging	Het
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
4930452B06Rik	G	A	14: 8,578,394 (GRCm38)	T116I	probably damaging	Het
Aadat	C	T	8: 60,526,629 (GRCm38)	P175L	probably damaging	Het
Acot7	G	T	4: 152,186,207 (GRCm38)		probably benign	Het
Adad1	T	G	3: 37,076,664 (GRCm38)	F259V	possibly damaging	Het
Adora2a	A	G	10: 75,326,045 (GRCm38)	Y6C	probably null	Het
Ahnak	A	G	19: 9,012,754 (GRCm38)		probably benign	Het
Ankrd45	A	G	1: 161,160,700 (GRCm38)	K176R	possibly damaging	Het
Ap3m2	T	C	8: 22,803,981 (GRCm38)	K18E	probably damaging	Het
Apol10b	C	T	15: 77,588,806 (GRCm38)	R16Q	possibly damaging	Het
Atp2b2	T	A	6: 113,842,186 (GRCm38)	T49S	possibly damaging	Het
B3gntl1	T	G	11: 121,629,969 (GRCm38)	Y206S	possibly damaging	Het
BC061237	G	A	14: 44,501,209 (GRCm38)	E22K	possibly damaging	Het
Bmp1	A	G	14: 70,475,215 (GRCm38)	V959A	probably benign	Het
C530008M17Rik	A	T	5: 76,848,835 (GRCm38)	I47F	probably damaging	Het
Cep295	T	C	9: 15,351,760 (GRCm38)	E169G	probably damaging	Het
Cfap65	T	G	1: 74,903,124 (GRCm38)	E1757A	possibly damaging	Het
Cgrrf1	T	A	14: 46,853,455 (GRCm38)	I216N	possibly damaging	Het
Clstn2	T	A	9: 97,799,395 (GRCm38)	D64V	probably damaging	Het
Col27a1	T	A	4: 63,275,960 (GRCm38)	D851E	possibly damaging	Het
Coq9	C	T	8: 94,853,194 (GRCm38)	P259L	probably benign	Het
Cps1	A	G	1: 67,177,024 (GRCm38)	N836S	probably benign	Het
Crebbp	T	C	16: 4,088,375 (GRCm38)	K1588E	probably damaging	Het
Cspg4	T	C	9: 56,898,069 (GRCm38)	W2055R	probably benign	Het
Cyp3a44	A	T	5: 145,777,982 (GRCm38)	M453K	probably damaging	Het
Dhx36	T	G	3: 62,484,260 (GRCm38)	D555A	probably damaging	Het
Dock2	A	T	11: 34,266,248 (GRCm38)	Y1219N	probably damaging	Het
Dpy19l2	A	T	9: 24,628,180 (GRCm38)	C492*	probably null	Het
Dusp22	A	G	13: 30,668,830 (GRCm38)	N16S	probably benign	Het
Epha1	A	G	6: 42,360,734 (GRCm38)	M805T	probably damaging	Het
Espl1	C	T	15: 102,324,070 (GRCm38)	A2071V	possibly damaging	Het
Fam160a1	A	C	3: 85,683,611 (GRCm38)	C178G	probably damaging	Het
Fbxo11	T	A	17: 87,992,333 (GRCm38)	D863V	probably damaging	Het
Fbxo7	T	A	10: 86,029,150 (GRCm38)	Y106N	probably damaging	Het
Fst	A	G	13: 114,454,384 (GRCm38)	V282A	probably damaging	Het
Gfra3	T	A	18: 34,711,251 (GRCm38)	M79L	probably benign	Het
Glp1r	T	C	17: 30,936,266 (GRCm38)	V409A	probably damaging	Het
Gm10799	T	A	2: 104,068,207 (GRCm38)	D51V	probably damaging	Het
Gm572	C	A	4: 148,667,362 (GRCm38)	T228N	possibly damaging	Het
Grip1	C	T	10: 120,075,306 (GRCm38)	T643M	probably damaging	Het
Hdgfl2	C	T	17: 56,096,265 (GRCm38)	R222C	possibly damaging	Het
Hecw2	T	A	1: 53,950,841 (GRCm38)	I125F	probably benign	Het
Hipk1	A	G	3: 103,744,022 (GRCm38)	S1153P	possibly damaging	Het
Insm2	T	C	12: 55,599,761 (GRCm38)	S97P	probably damaging	Het
Iqca	A	G	1: 90,140,037 (GRCm38)	V164A	probably benign	Het
Kcna6	T	C	6: 126,738,726 (GRCm38)	D400G	probably benign	Het
Kctd1	T	C	18: 14,974,254 (GRCm38)	Y122C	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Klra2	T	C	6: 131,230,202 (GRCm38)	Y148C	probably damaging	Het
Krtap31-1	G	A	11: 99,908,484 (GRCm38)	C171Y	unknown	Het
Ldlrap1	C	T	4: 134,758,971 (GRCm38)	R59Q	probably benign	Het
Ltb	T	C	17: 35,195,258 (GRCm38)	I3T	probably benign	Het
Macf1	T	C	4: 123,455,009 (GRCm38)	I2477V	probably benign	Het
Mpdz	A	T	4: 81,361,476 (GRCm38)	I39N	probably damaging	Het
Mycbp2	A	G	14: 103,211,295 (GRCm38)	I1776T	probably damaging	Het
Myof	T	A	19: 37,942,357 (GRCm38)	E994V	probably damaging	Het
Myom3	A	G	4: 135,783,055 (GRCm38)	E553G	possibly damaging	Het
Mysm1	A	T	4: 94,958,948 (GRCm38)	C504S	probably damaging	Het
Nectin3	A	T	16: 46,448,886 (GRCm38)	H384Q	probably benign	Het
Net1	G	A	13: 3,884,252 (GRCm38)	R482*	probably null	Het
Nit1	T	C	1: 171,343,695 (GRCm38)	K193R	probably null	Het
Nlgn1	A	G	3: 25,912,674 (GRCm38)	V205A	probably damaging	Het
Nr3c2	A	T	8: 76,908,809 (GRCm38)	I180F	possibly damaging	Het
Nup62	T	A	7: 44,828,865 (GRCm38)	S101R	probably damaging	Het
Olfr1264	A	G	2: 90,021,643 (GRCm38)	V141A	probably benign	Het
Olfr1465	A	T	19: 13,313,670 (GRCm38)	I205N	probably benign	Het
Olfr1489	A	T	19: 13,634,027 (GRCm38)	K305N	probably benign	Het
Olfr155	T	C	4: 43,854,890 (GRCm38)	S194P	probably damaging	Het
Olfr355	G	T	2: 36,928,012 (GRCm38)	T34K	possibly damaging	Het
Olfr508	A	T	7: 108,630,612 (GRCm38)	I207F	probably damaging	Het
Olfr64	T	A	7: 103,893,655 (GRCm38)	I27F	probably benign	Het
Olfr663	T	A	7: 104,703,861 (GRCm38)	I98N	probably damaging	Het
Osbpl6	A	T	2: 76,549,539 (GRCm38)	I158F	probably damaging	Het
Pcbp4	A	G	9: 106,462,102 (GRCm38)	T103A	probably benign	Het
Pcdha2	T	A	18: 36,940,900 (GRCm38)	L528Q	probably damaging	Het
Pcdhga5	T	C	18: 37,694,627 (GRCm38)	S43P	probably damaging	Het
Pdgfra	C	A	5: 75,189,312 (GRCm38)	N952K	probably benign	Het
Pla2r1	A	G	2: 60,534,984 (GRCm38)	S81P	probably damaging	Het
Ppp1r32	A	T	19: 10,474,501 (GRCm38)	*428R	probably null	Het
Rabggtb	A	T	3: 153,911,931 (GRCm38)	D43E	possibly damaging	Het
Rexo5	T	A	7: 119,825,551 (GRCm38)	C43*	probably null	Het
Robo1	T	A	16: 72,904,751 (GRCm38)	D168E	probably damaging	Het
Scimp	A	G	11: 70,798,039 (GRCm38)	M49T	unknown	Het
Sema3e	T	A	5: 14,225,565 (GRCm38)	V228E	probably damaging	Het
Sema6d	A	G	2: 124,656,818 (GRCm38)		probably null	Het
Serpinb6d	A	T	13: 33,666,445 (GRCm38)	D85V	possibly damaging	Het
Slc24a2	C	T	4: 86,991,508 (GRCm38)	V658I	probably damaging	Het
Snd1	T	C	6: 28,526,912 (GRCm38)	I198T	possibly damaging	Het
Snx33	C	T	9: 56,926,180 (GRCm38)	V202M	probably damaging	Het
Soga3	A	T	10: 29,196,541 (GRCm38)	N610Y	probably damaging	Het
Srcap	A	G	7: 127,522,017 (GRCm38)	E174G	probably damaging	Het
Srgap2	C	A	1: 131,292,576 (GRCm38)		probably null	Het
Stxbp5	A	T	10: 9,812,341 (GRCm38)	Y405*	probably null	Het
Thsd4	C	T	9: 59,988,037 (GRCm38)	R710H	probably benign	Het
Trp53inp1	T	A	4: 11,165,130 (GRCm38)	D51E	probably benign	Het
Ttc41	A	G	10: 86,731,018 (GRCm38)	D516G	probably benign	Het
Uap1l1	A	G	2: 25,362,828 (GRCm38)	V400A	probably damaging	Het
Vit	T	C	17: 78,624,753 (GRCm38)	S430P	probably damaging	Het
Vmn1r9	T	A	6: 57,071,309 (GRCm38)	M123K	possibly damaging	Het
Vmn2r14	A	T	5: 109,221,518 (GRCm38)		probably null	Het
Vwa3a	A	G	7: 120,791,701 (GRCm38)	T746A	probably benign	Het
Wdfy4	G	T	14: 32,988,895 (GRCm38)	Y2578*	probably null	Het
Wdr53	A	T	16: 32,256,978 (GRCm38)	K334*	probably null	Het
Xpot	G	T	10: 121,606,808 (GRCm38)	H495Q	probably damaging	Het
Zcchc6	A	T	13: 59,789,452 (GRCm38)	L775H	probably damaging	Het
Zfp109	T	C	7: 24,229,145 (GRCm38)	T288A	probably benign	Het
Zfp277	T	A	12: 40,363,153 (GRCm38)	E276V	probably damaging	Het
Zfp703	A	G	8: 26,978,701 (GRCm38)	D131G	probably benign	Het
Zfp985	T	A	4: 147,583,344 (GRCm38)	I223N	probably benign	Het
Zrsr1	T	C	11: 22,973,805 (GRCm38)	V193A	possibly damaging	Het
Zscan20	A	G	4: 128,588,165 (GRCm38)	I568T	possibly damaging	Het

Other mutations in Ankar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ankar	APN	1	72,690,131 (GRCm38)	missense	probably damaging	1.00
IGL01013:Ankar	APN	1	72,650,989 (GRCm38)	missense	possibly damaging	0.90
IGL01135:Ankar	APN	1	72,665,219 (GRCm38)	missense	probably benign	0.28
IGL01824:Ankar	APN	1	72,651,727 (GRCm38)	missense	probably benign	0.40
IGL01885:Ankar	APN	1	72,658,703 (GRCm38)	missense	probably damaging	1.00
IGL01932:Ankar	APN	1	72,698,987 (GRCm38)	missense	probably benign	0.25
IGL02143:Ankar	APN	1	72,658,649 (GRCm38)	critical splice donor site	probably null
IGL02326:Ankar	APN	1	72,666,355 (GRCm38)	missense	probably damaging	1.00
IGL02445:Ankar	APN	1	72,666,365 (GRCm38)	missense	probably benign	0.05
IGL02606:Ankar	APN	1	72,690,285 (GRCm38)	missense	possibly damaging	0.61
IGL02635:Ankar	APN	1	72,652,431 (GRCm38)	missense	possibly damaging	0.93
IGL02680:Ankar	APN	1	72,670,116 (GRCm38)	missense	probably damaging	1.00
IGL02704:Ankar	APN	1	72,652,343 (GRCm38)	missense	possibly damaging	0.88
IGL03086:Ankar	APN	1	72,643,278 (GRCm38)	missense	possibly damaging	0.84
IGL03269:Ankar	APN	1	72,665,201 (GRCm38)	missense	probably damaging	0.99
IGL03368:Ankar	APN	1	72,675,813 (GRCm38)	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72,656,164 (GRCm38)	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72,656,164 (GRCm38)	missense	probably damaging	1.00
R0488:Ankar	UTSW	1	72,658,732 (GRCm38)	missense	probably damaging	1.00
R0650:Ankar	UTSW	1	72,656,221 (GRCm38)	splice site	probably benign
R1121:Ankar	UTSW	1	72,651,663 (GRCm38)	splice site	probably null
R1163:Ankar	UTSW	1	72,688,705 (GRCm38)	missense	possibly damaging	0.82
R1300:Ankar	UTSW	1	72,643,164 (GRCm38)	missense	probably benign	0.00
R1309:Ankar	UTSW	1	72,674,004 (GRCm38)	missense	possibly damaging	0.59
R1366:Ankar	UTSW	1	72,698,649 (GRCm38)	missense	probably damaging	1.00
R1456:Ankar	UTSW	1	72,665,118 (GRCm38)	missense	probably benign	0.34
R1495:Ankar	UTSW	1	72,643,291 (GRCm38)	missense	probably benign
R1583:Ankar	UTSW	1	72,679,555 (GRCm38)	splice site	probably benign
R1635:Ankar	UTSW	1	72,650,138 (GRCm38)	missense	probably damaging	0.99
R1975:Ankar	UTSW	1	72,658,441 (GRCm38)	missense	possibly damaging	0.95
R2036:Ankar	UTSW	1	72,666,530 (GRCm38)	nonsense	probably null
R2511:Ankar	UTSW	1	72,658,694 (GRCm38)	missense	probably damaging	1.00
R2965:Ankar	UTSW	1	72,675,820 (GRCm38)	missense	probably benign	0.00
R3404:Ankar	UTSW	1	72,643,093 (GRCm38)	nonsense	probably null
R3417:Ankar	UTSW	1	72,658,976 (GRCm38)	critical splice donor site	probably null
R4072:Ankar	UTSW	1	72,688,592 (GRCm38)	missense	probably damaging	1.00
R4231:Ankar	UTSW	1	72,658,542 (GRCm38)	missense	probably benign	0.23
R4447:Ankar	UTSW	1	72,687,789 (GRCm38)	missense	possibly damaging	0.60
R4632:Ankar	UTSW	1	72,647,184 (GRCm38)	missense	probably benign	0.01
R4720:Ankar	UTSW	1	72,699,011 (GRCm38)	missense	possibly damaging	0.55
R4754:Ankar	UTSW	1	72,698,694 (GRCm38)	missense	probably damaging	1.00
R5068:Ankar	UTSW	1	72,680,210 (GRCm38)	splice site	probably null
R5069:Ankar	UTSW	1	72,680,210 (GRCm38)	splice site	probably null
R5070:Ankar	UTSW	1	72,680,210 (GRCm38)	splice site	probably null
R5189:Ankar	UTSW	1	72,658,414 (GRCm38)	missense	probably benign	0.01
R5247:Ankar	UTSW	1	72,680,184 (GRCm38)	missense	probably benign	0.08
R5322:Ankar	UTSW	1	72,690,386 (GRCm38)	splice site	probably null
R5345:Ankar	UTSW	1	72,670,151 (GRCm38)	missense	possibly damaging	0.94
R5864:Ankar	UTSW	1	72,659,165 (GRCm38)	missense	probably benign	0.00
R5976:Ankar	UTSW	1	72,643,291 (GRCm38)	missense	probably benign
R6003:Ankar	UTSW	1	72,698,887 (GRCm38)	missense	probably damaging	1.00
R6042:Ankar	UTSW	1	72,674,054 (GRCm38)	nonsense	probably null
R6296:Ankar	UTSW	1	72,643,258 (GRCm38)	missense	probably damaging	1.00
R6488:Ankar	UTSW	1	72,681,808 (GRCm38)	critical splice donor site	probably null
R6885:Ankar	UTSW	1	72,643,036 (GRCm38)	missense	unknown
R6985:Ankar	UTSW	1	72,658,482 (GRCm38)	missense	probably damaging	1.00
R7060:Ankar	UTSW	1	72,656,113 (GRCm38)	missense	probably benign	0.18
R7099:Ankar	UTSW	1	72,643,293 (GRCm38)	missense	probably damaging	0.99
R7194:Ankar	UTSW	1	72,659,033 (GRCm38)	missense	probably benign	0.32
R7221:Ankar	UTSW	1	72,650,231 (GRCm38)	missense	probably damaging	1.00
R7222:Ankar	UTSW	1	72,666,355 (GRCm38)	missense	probably damaging	0.99
R7258:Ankar	UTSW	1	72,651,727 (GRCm38)	missense	probably benign	0.40
R7303:Ankar	UTSW	1	72,659,033 (GRCm38)	missense	probably benign	0.32
R7308:Ankar	UTSW	1	72,651,794 (GRCm38)	nonsense	probably null
R7384:Ankar	UTSW	1	72,658,465 (GRCm38)	missense	probably benign	0.00
R7424:Ankar	UTSW	1	72,680,058 (GRCm38)	missense	probably damaging	1.00
R7464:Ankar	UTSW	1	72,698,894 (GRCm38)	missense	possibly damaging	0.94
R7525:Ankar	UTSW	1	72,688,641 (GRCm38)	missense	probably benign	0.18
R7618:Ankar	UTSW	1	72,675,766 (GRCm38)	missense	probably benign	0.22
R7659:Ankar	UTSW	1	72,690,135 (GRCm38)	missense	possibly damaging	0.95
R7974:Ankar	UTSW	1	72,698,979 (GRCm38)	nonsense	probably null
R8008:Ankar	UTSW	1	72,666,484 (GRCm38)	missense	possibly damaging	0.47
R8119:Ankar	UTSW	1	72,647,001 (GRCm38)	missense	probably damaging	0.98
R8244:Ankar	UTSW	1	72,651,024 (GRCm38)	missense	probably benign
R8342:Ankar	UTSW	1	72,652,460 (GRCm38)	missense	probably damaging	1.00
R8494:Ankar	UTSW	1	72,658,794 (GRCm38)	missense	probably benign	0.16
R8851:Ankar	UTSW	1	72,652,376 (GRCm38)	missense	probably damaging	1.00
R8970:Ankar	UTSW	1	72,652,337 (GRCm38)	critical splice donor site	probably null
R9228:Ankar	UTSW	1	72,674,051 (GRCm38)	missense	probably benign	0.27
R9511:Ankar	UTSW	1	72,680,002 (GRCm38)	missense	probably benign	0.23
R9577:Ankar	UTSW	1	72,681,908 (GRCm38)	missense	probably benign	0.02
R9612:Ankar	UTSW	1	72,665,135 (GRCm38)	missense	possibly damaging	0.65
R9647:Ankar	UTSW	1	72,650,148 (GRCm38)	missense	probably damaging	1.00
R9803:Ankar	UTSW	1	72,659,181 (GRCm38)	missense	possibly damaging	0.47
Z1176:Ankar	UTSW	1	72,689,961 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTGGATCAAAATTTGTCCAACCCTG -3'
(R):5'- ACAAGATGAAGAAACCTTCCGG -3'

Sequencing Primer
(F):5'- ACCCTGGTATCATAATAAGCAGG -3'
(R):5'- CCTTCCGGGAAAATTTAGCAG -3'

Posted On

2016-03-17