Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03086:Ankar'

418101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03086

Quality Score

Status

Chromosome

Chromosomal Location

72682139-72739738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72682437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1158 (I1158T)

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: I1376T

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I1376T

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: I1375T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212057

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: I1158T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	A	G	8: 123,621,249 (GRCm39)	S868P	probably damaging	Het
Atad3a	C	T	4: 155,833,127 (GRCm39)		probably null	Het
Cadm4	A	T	7: 24,200,240 (GRCm39)	N250Y	probably damaging	Het
Cd300c2	T	C	11: 114,891,649 (GRCm39)	E75G	possibly damaging	Het
Cdc23	A	C	18: 34,770,239 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Ckap5	T	A	2: 91,400,621 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,960,061 (GRCm39)		probably benign	Het
Dclk1	G	A	3: 55,154,788 (GRCm39)	V73M	probably damaging	Het
Dnah8	T	C	17: 30,961,754 (GRCm39)	L2297P	probably damaging	Het
Eif2a	A	G	3: 58,448,538 (GRCm39)	I124V	probably benign	Het
Fam227b	A	T	2: 125,960,951 (GRCm39)	I226K	probably benign	Het
Fcgr1	G	T	3: 96,191,814 (GRCm39)	Y331*	probably null	Het
Helq	T	C	5: 100,944,793 (GRCm39)	T106A	possibly damaging	Het
Ly9	A	T	1: 171,432,738 (GRCm39)	Y92N	probably benign	Het
Myom1	G	A	17: 71,415,666 (GRCm39)	C1256Y	probably damaging	Het
Ndc80	G	A	17: 71,827,920 (GRCm39)	T104I	probably benign	Het
Or1x2	T	A	11: 50,918,557 (GRCm39)	C243S	probably damaging	Het
Or2y1d	A	G	11: 49,321,632 (GRCm39)	T110A	probably benign	Het
Or51a8	T	C	7: 102,549,613 (GRCm39)	F13S	probably damaging	Het
Or5e1	A	T	7: 108,355,003 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,969,273 (GRCm39)	N679S	probably damaging	Het
Polq	G	A	16: 36,911,411 (GRCm39)	R2382K	probably benign	Het
Recql4	C	T	15: 76,590,468 (GRCm39)	R672Q	probably benign	Het
Selenbp2	A	G	3: 94,606,945 (GRCm39)	N197S	probably damaging	Het
Sirpb1a	C	A	3: 15,491,388 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,054,856 (GRCm39)	D832E	probably benign	Het
Slc13a1	G	A	6: 24,118,002 (GRCm39)	A245V	probably damaging	Het
Unc80	A	G	1: 66,548,633 (GRCm39)	D635G	probably damaging	Het
Utp18	T	C	11: 93,766,882 (GRCm39)	Q275R	probably damaging	Het
Wdr35	A	G	12: 9,058,692 (GRCm39)		probably null	Het
Zfyve26	A	G	12: 79,342,338 (GRCm39)	V36A	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
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
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

Posted On

2016-08-02