Mutagenetix > Incidental Mutation

Incidental Mutation 'R3417:Ankar'

266825

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

040635-MU

Accession Numbers

Essential gene?

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

Stock #

R3417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72682139-72739738 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 72698135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably null
Transcript: ENSMUST00000053499

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342

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 null
Transcript: ENSMUST00000211837

Predicted Effect

probably null
Transcript: ENSMUST00000212573

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,224,302 (GRCm39)		probably benign	Het
Adgrl2	T	C	3: 148,564,965 (GRCm39)	Y201C	probably damaging	Het
Ankrd17	G	A	5: 90,391,772 (GRCm39)	T1857I	possibly damaging	Het
Atp6v0d2	A	G	4: 19,888,829 (GRCm39)		probably benign	Het
Cep170	G	T	1: 176,583,610 (GRCm39)	P923Q	probably damaging	Het
Cfc1	A	T	1: 34,575,457 (GRCm39)	R44*	probably null	Het
Col6a1	C	T	10: 76,548,203 (GRCm39)	V618M	unknown	Het
Crmp1	A	T	5: 37,426,031 (GRCm39)	I159L	possibly damaging	Het
Crocc	G	A	4: 140,773,758 (GRCm39)	T103I	possibly damaging	Het
Cyp4f39	T	C	17: 32,708,716 (GRCm39)	V421A	possibly damaging	Het
Ero1a	T	C	14: 45,525,323 (GRCm39)	T401A	possibly damaging	Het
Exoc6b	C	G	6: 84,867,547 (GRCm39)	L288F	possibly damaging	Het
Fsip2	G	A	2: 82,816,854 (GRCm39)	V4196I	possibly damaging	Het
Icosl	A	T	10: 77,907,869 (GRCm39)	N143I	possibly damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Irag1	T	C	7: 110,476,161 (GRCm39)	T597A	possibly damaging	Het
Jrk	A	G	15: 74,578,734 (GRCm39)	Y184H	probably damaging	Het
Kdm5b	T	C	1: 134,515,715 (GRCm39)	L113P	probably damaging	Het
Klhl42	G	A	6: 147,009,378 (GRCm39)	V406M	probably damaging	Het
Lrp12	A	G	15: 39,741,678 (GRCm39)	F365L	probably damaging	Het
Lrrc37	A	T	11: 103,505,435 (GRCm39)	S2178T	possibly damaging	Het
Map4k5	A	T	12: 69,856,038 (GRCm39)	V716E	probably damaging	Het
Mcm9	T	C	10: 53,413,503 (GRCm39)	T1264A	possibly damaging	Het
Mia3	T	A	1: 183,143,444 (GRCm39)	D100V	probably damaging	Het
Mrgprb2	C	A	7: 48,202,281 (GRCm39)	R148L	probably damaging	Het
Mterf1a	A	G	5: 3,940,795 (GRCm39)	S358P	probably damaging	Het
Myd88	T	C	9: 119,166,556 (GRCm39)	I253V	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nqo2	G	T	13: 34,163,616 (GRCm39)	V92L	probably benign	Het
Or4k2	T	A	14: 50,424,069 (GRCm39)	T202S	possibly damaging	Het
Pcdhb15	A	T	18: 37,608,216 (GRCm39)	N483Y	probably damaging	Het
Pds5a	A	G	5: 65,795,235 (GRCm39)	F667S	probably damaging	Het
Plxnb1	C	A	9: 108,929,828 (GRCm39)	A228E	probably damaging	Het
Prpsap1	T	C	11: 116,369,410 (GRCm39)	S179G	probably benign	Het
Rtl4	C	T	X: 143,902,901 (GRCm39)	Q108*	probably null	Het
Scn8a	A	G	15: 100,869,549 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc44a1	G	A	4: 53,553,549 (GRCm39)	V519I	probably benign	Het
Smg1	G	C	7: 117,748,076 (GRCm39)		probably benign	Het
Sptlc2	A	G	12: 87,393,582 (GRCm39)		probably benign	Het
St13	A	T	15: 81,253,651 (GRCm39)		probably benign	Het
Strbp	C	G	2: 37,480,737 (GRCm39)	R610T	possibly damaging	Het
Tas2r124	A	T	6: 132,732,601 (GRCm39)	R303S	probably benign	Het
Tex55	A	C	16: 38,649,102 (GRCm39)	D2E	probably benign	Het
Tgm3	G	A	2: 129,889,692 (GRCm39)	V629M	possibly damaging	Het
Tnr	T	C	1: 159,722,612 (GRCm39)	V1019A	probably benign	Het
Ttn	A	T	2: 76,615,908 (GRCm39)	C14932*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	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
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
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'- CAAAGTGCTATGGCTCCCTG -3'
(R):5'- AAGTGCAGGATGCTATCGC -3'

Sequencing Primer
(F):5'- GCTCCTTAACATCTATTTGAAAGGCC -3'
(R):5'- TATCGCAAAGGAAGGGGCCATC -3'

Posted On

2015-02-18