Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01013:Ankar'

53395

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 #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72650989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1228 (I1228F)

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: I1228F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I1228F

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: I1227F

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: I1010F

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,886,206	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185	L2059*	probably null	Het
Appl1	A	T	14: 26,949,476	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,323,087	R1103L	probably benign	Het
B4galt6	A	G	18: 20,689,013	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,581,339	P1534L	probably benign	Het
Ccdc78	A	G	17: 25,789,054	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,740,869	R141*	probably null	Het
Cpsf1	G	A	15: 76,599,297	Q883*	probably null	Het
Crot	A	G	5: 8,993,575	Y16H	probably benign	Het
Cyld	T	G	8: 88,742,362	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,031,395		probably null	Het
Fam89b	G	T	19: 5,729,369	D53E	probably benign	Het
Fig4	T	C	10: 41,267,786	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230	Y184F	probably damaging	Het
Hp	C	A	8: 109,579,021		probably benign	Het
Igsf9b	G	T	9: 27,334,304	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,399,691	N620D	possibly damaging	Het
Jakmip3	A	C	7: 139,017,573	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,370,517	I413K	probably damaging	Het
Letm1	A	T	5: 33,762,590	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,135	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,827,526		probably benign	Het
Mcidas	T	A	13: 112,997,585		probably benign	Het
Mme	A	G	3: 63,327,860		probably null	Het
Mrc1	T	C	2: 14,328,425	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 4,030,716	Q473K	probably damaging	Het
Muc6	A	T	7: 141,648,066	C719*	probably null	Het
Nsun7	T	C	5: 66,283,601	I355T	possibly damaging	Het
Padi6	A	G	4: 140,729,003	L560P	probably damaging	Het
Parl	C	A	16: 20,282,790	A285S	possibly damaging	Het
Pclo	A	T	5: 14,793,834	M4795L	unknown	Het
Polr2f	A	G	15: 79,146,129	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,404,383	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,284,227	D44G	probably benign	Het
Slc25a16	A	G	10: 62,944,433		probably null	Het
Snrnp200	G	A	2: 127,232,472	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,625,065	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,201,959		probably null	Het
Tcf7l2	T	C	19: 55,919,627		probably benign	Het
Tnrc6c	G	T	11: 117,722,029	V498L	probably benign	Het
Tymp	G	A	15: 89,376,310	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,535,497	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,839,956	I41T	probably 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
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
R4884:Ankar	UTSW	1	72,698,807 (GRCm38)	missense	probably damaging	0.97
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

Posted On

2013-06-28