Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02635:Ankar'

301485

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 #

IGL02635

Quality Score

Status

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72652431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1124 (V1124I)

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: V1124I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1124I

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: V1123I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: V906I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

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
A730018C14Rik	A	C	12: 112,415,152 (GRCm38)		noncoding transcript	Het
Abcc12	C	T	8: 86,509,682 (GRCm38)		probably benign	Het
Akap9	T	C	5: 4,070,500 (GRCm38)	S3639P	possibly damaging	Het
AW209491	C	T	13: 14,637,267 (GRCm38)	A235V	possibly damaging	Het
Cask	A	T	X: 13,714,770 (GRCm38)	D58E	probably damaging	Het
Cdhr4	T	A	9: 107,992,871 (GRCm38)	M25K	probably benign	Het
Clasp2	A	G	9: 113,908,842 (GRCm38)	I1096V	probably damaging	Het
Fam234a	T	A	17: 26,214,453 (GRCm38)	I410F	possibly damaging	Het
Gbe1	T	C	16: 70,569,014 (GRCm38)	L693P	probably damaging	Het
Golgb1	G	T	16: 36,915,013 (GRCm38)	V1541L	probably benign	Het
Gpr143	G	A	X: 152,808,261 (GRCm38)	E382K	probably damaging	Het
Gpr171	C	T	3: 59,097,596 (GRCm38)	V253I	probably benign	Het
Gsap	T	A	5: 21,289,816 (GRCm38)	W10R	probably damaging	Het
Hsd17b12	T	A	2: 94,083,211 (GRCm38)	D116V	possibly damaging	Het
Ifih1	A	T	2: 62,611,829 (GRCm38)	L348Q	probably damaging	Het
Ighv1-50	G	A	12: 115,119,995 (GRCm38)	A35V	probably benign	Het
Lrcol1	A	C	5: 110,354,593 (GRCm38)	M112L	probably benign	Het
Lrrc59	T	A	11: 94,643,456 (GRCm38)	V280E	probably damaging	Het
Med17	A	T	9: 15,274,549 (GRCm38)	I223K	probably damaging	Het
Olfr1508	T	C	14: 52,463,794 (GRCm38)	I72V	probably damaging	Het
Oog3	T	C	4: 144,158,145 (GRCm38)	N407S	probably damaging	Het
Pear1	T	C	3: 87,750,146 (GRCm38)	*1035W	probably null	Het
Pkd1	T	A	17: 24,572,811 (GRCm38)	F1157L	probably damaging	Het
Pkp4	T	C	2: 59,305,498 (GRCm38)		probably benign	Het
Ppl	T	C	16: 5,089,767 (GRCm38)	E888G	probably benign	Het
Prh1	G	A	6: 132,572,283 (GRCm38)	G251E	unknown	Het
Prkar2a	A	G	9: 108,728,277 (GRCm38)	E178G	probably damaging	Het
Rfx6	A	T	10: 51,716,026 (GRCm38)	T352S	possibly damaging	Het
S1pr1	T	C	3: 115,712,090 (GRCm38)	K285R	probably benign	Het
Slc12a1	A	G	2: 125,225,978 (GRCm38)	H995R	probably benign	Het
Slc25a54	T	A	3: 109,112,817 (GRCm38)	N382K	possibly damaging	Het
Snrnp48	T	G	13: 38,209,869 (GRCm38)		probably benign	Het
Spg11	T	C	2: 122,113,068 (GRCm38)	D201G	possibly damaging	Het
Stox1	T	C	10: 62,664,906 (GRCm38)	D625G	probably benign	Het
Supt6	T	C	11: 78,212,739 (GRCm38)	H1380R	probably damaging	Het
Tcp1	T	A	17: 12,923,409 (GRCm38)	M430K	probably benign	Het
Tlr12	A	T	4: 128,616,816 (GRCm38)	V547E	probably damaging	Het
Tmem255b	G	T	8: 13,455,195 (GRCm38)	D167Y	probably damaging	Het
Trpc7	T	C	13: 56,776,168 (GRCm38)	R735G	probably damaging	Het
Trpm1	A	G	7: 64,199,224 (GRCm38)	T73A	probably benign	Het
Ubr3	A	T	2: 70,020,483 (GRCm38)	L1748F	probably damaging	Het
Xirp2	T	C	2: 67,507,910 (GRCm38)	I165T	possibly damaging	Het
Ybx1	T	C	4: 119,279,089 (GRCm38)	N282S	possibly damaging	Het
Zdhhc12	T	A	2: 30,093,519 (GRCm38)	I24F	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
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
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

2015-04-16