Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01524:Ankrd36'

89507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

GC3, 1700012M14Rik, 1700008J08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5585092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 301 (I301T)

Ref Sequence

ENSEMBL: ENSMUSP00000120499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109856] [ENSMUST00000118112] [ENSMUST00000137933]

AlphaFold

D3Z4K0

Predicted Effect

probably benign
Transcript: ENSMUST00000109856
AA Change: I943T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: I943T

Domain	Start	End	E-Value	Type
Blast:ANK	29	62	3e-12	BLAST
ANK	66	95	4.5e-3	SMART
ANK	99	128	1.44e-1	SMART
ANK	132	161	4.6e0	SMART
ANK	165	194	2.48e-5	SMART
ANK	198	227	4.67e-1	SMART
internal_repeat_1	449	555	1.04e-5	PROSPERO
internal_repeat_1	891	981	1.04e-5	PROSPERO
low complexity region	1105	1118	N/A	INTRINSIC
coiled coil region	1268	1297	N/A	INTRINSIC
coiled coil region	1318	1338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118112
AA Change: I976T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: I976T

Domain	Start	End	E-Value	Type
Blast:ANK	29	62	3e-12	BLAST
ANK	66	95	2.9e-5	SMART
ANK	99	128	9.4e-4	SMART
ANK	132	161	2.9e-2	SMART
ANK	165	194	1.5e-7	SMART
ANK	198	227	2.9e-3	SMART
internal_repeat_1	255	352	8.15e-5	PROSPERO
internal_repeat_1	438	538	8.15e-5	PROSPERO
low complexity region	1138	1151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120982

Predicted Effect

probably benign
Transcript: ENSMUST00000137933
AA Change: I301T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: I301T

Domain	Start	End	E-Value	Type
low complexity region	463	476	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,969,106 (GRCm39)	D117V	probably damaging	Het
Abca14	T	C	7: 119,852,644 (GRCm39)	Y870H	possibly damaging	Het
Atp10b	T	A	11: 43,150,672 (GRCm39)	S1457T	probably benign	Het
Bltp1	A	G	3: 36,996,531 (GRCm39)	D1081G	possibly damaging	Het
Ccdc175	G	A	12: 72,177,916 (GRCm39)		probably benign	Het
Ccdc93	A	G	1: 121,389,628 (GRCm39)	K224E	probably benign	Het
Cep131	C	T	11: 119,956,786 (GRCm39)	A886T	probably damaging	Het
Clip1	A	C	5: 123,717,442 (GRCm39)	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 172,959,177 (GRCm39)	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,659,495 (GRCm39)	V112I	probably benign	Het
Fhod3	T	C	18: 25,263,659 (GRCm39)	I1521T	probably damaging	Het
Gipc2	A	G	3: 151,843,214 (GRCm39)	I141T	probably damaging	Het
Glo1	T	C	17: 30,815,393 (GRCm39)	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,208,631 (GRCm39)	A140E	probably damaging	Het
Kynu	A	G	2: 43,561,394 (GRCm39)	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,798,857 (GRCm39)	I174N	probably damaging	Het
Nat10	T	A	2: 103,588,102 (GRCm39)	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,564,587 (GRCm39)	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979 (GRCm39)	H31R	probably damaging	Het
Sema6d	T	C	2: 124,505,995 (GRCm39)	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,544,308 (GRCm39)	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,686,668 (GRCm39)	S12P	probably benign	Het
Spats2	C	T	15: 99,110,127 (GRCm39)	A508V	probably benign	Het
Tinag	A	G	9: 76,952,820 (GRCm39)	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,188,844 (GRCm39)	I172T	possibly damaging	Het
Trim17	A	G	11: 58,861,423 (GRCm39)	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,283,519 (GRCm39)	N67K	probably benign	Het
Washc4	T	C	10: 83,411,996 (GRCm39)	L709P	probably benign	Het
Xdh	T	C	17: 74,230,132 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,309,036 (GRCm39)	P754L	probably damaging	Het
Zfp267	T	C	3: 36,218,729 (GRCm39)	Y251H	possibly damaging	Het
Zfp623	C	A	15: 75,819,528 (GRCm39)	S161R	probably benign	Het
Zmat3	G	A	3: 32,395,827 (GRCm39)	R227C	possibly damaging	Het

Other mutations in Ankrd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ankrd36	APN	11	5,570,131 (GRCm39)	missense	probably benign	0.01
IGL01361:Ankrd36	APN	11	5,546,706 (GRCm39)	splice site	probably benign
IGL01370:Ankrd36	APN	11	5,534,019 (GRCm39)	missense	probably benign	0.06
IGL01384:Ankrd36	APN	11	5,578,348 (GRCm39)	missense	probably benign	0.33
IGL01484:Ankrd36	APN	11	5,579,006 (GRCm39)	missense	possibly damaging	0.90
IGL01700:Ankrd36	APN	11	5,582,198 (GRCm39)	missense	probably benign	0.05
IGL02322:Ankrd36	APN	11	5,564,619 (GRCm39)	missense	possibly damaging	0.86
IGL02511:Ankrd36	APN	11	5,610,845 (GRCm39)	splice site	probably null
IGL02824:Ankrd36	APN	11	5,524,246 (GRCm39)	missense	possibly damaging	0.67
IGL03204:Ankrd36	APN	11	5,534,023 (GRCm39)	missense	possibly damaging	0.70
PIT4508001:Ankrd36	UTSW	11	5,557,137 (GRCm39)	missense	possibly damaging	0.53
R0058:Ankrd36	UTSW	11	5,580,691 (GRCm39)	splice site	probably benign
R0058:Ankrd36	UTSW	11	5,580,691 (GRCm39)	splice site	probably benign
R0304:Ankrd36	UTSW	11	5,578,981 (GRCm39)	missense	possibly damaging	0.55
R0504:Ankrd36	UTSW	11	5,579,274 (GRCm39)	missense	probably damaging	0.99
R0550:Ankrd36	UTSW	11	5,557,429 (GRCm39)	critical splice donor site	probably null
R0563:Ankrd36	UTSW	11	5,579,322 (GRCm39)	missense	probably benign	0.33
R0891:Ankrd36	UTSW	11	5,637,316 (GRCm39)	missense	possibly damaging	0.72
R1018:Ankrd36	UTSW	11	5,596,876 (GRCm39)	unclassified	probably benign
R1468:Ankrd36	UTSW	11	5,525,752 (GRCm39)	missense	probably damaging	0.99
R1468:Ankrd36	UTSW	11	5,525,752 (GRCm39)	missense	probably damaging	0.99
R1558:Ankrd36	UTSW	11	5,585,329 (GRCm39)	missense	probably damaging	0.99
R1663:Ankrd36	UTSW	11	5,570,126 (GRCm39)	missense	possibly damaging	0.70
R1682:Ankrd36	UTSW	11	5,557,143 (GRCm39)	missense	possibly damaging	0.84
R1898:Ankrd36	UTSW	11	5,525,683 (GRCm39)	missense	probably benign	0.33
R2019:Ankrd36	UTSW	11	5,639,140 (GRCm39)	missense	probably benign
R2032:Ankrd36	UTSW	11	5,578,616 (GRCm39)	missense	possibly damaging	0.86
R2084:Ankrd36	UTSW	11	5,612,378 (GRCm39)	nonsense	probably null
R4097:Ankrd36	UTSW	11	5,578,703 (GRCm39)	missense	possibly damaging	0.85
R4572:Ankrd36	UTSW	11	5,639,340 (GRCm39)	splice site	probably null
R4601:Ankrd36	UTSW	11	5,520,102 (GRCm39)	missense	probably benign	0.04
R4770:Ankrd36	UTSW	11	5,540,870 (GRCm39)	missense	possibly damaging	0.73
R4777:Ankrd36	UTSW	11	5,557,120 (GRCm39)	missense	probably benign
R4894:Ankrd36	UTSW	11	5,585,332 (GRCm39)	missense	probably damaging	0.98
R5288:Ankrd36	UTSW	11	5,639,340 (GRCm39)	unclassified	probably benign
R5366:Ankrd36	UTSW	11	5,542,841 (GRCm39)	nonsense	probably null
R5384:Ankrd36	UTSW	11	5,639,340 (GRCm39)	unclassified	probably benign
R5385:Ankrd36	UTSW	11	5,639,340 (GRCm39)	unclassified	probably benign
R6109:Ankrd36	UTSW	11	5,578,941 (GRCm39)	missense	probably damaging	0.98
R6155:Ankrd36	UTSW	11	5,637,442 (GRCm39)	missense	probably benign	0.00
R6186:Ankrd36	UTSW	11	5,593,812 (GRCm39)	missense	possibly damaging	0.81
R6289:Ankrd36	UTSW	11	5,578,837 (GRCm39)	missense	probably damaging	0.96
R6476:Ankrd36	UTSW	11	5,578,753 (GRCm39)	missense	probably benign	0.05
R6816:Ankrd36	UTSW	11	5,593,765 (GRCm39)	missense	possibly damaging	0.66
R6880:Ankrd36	UTSW	11	5,578,748 (GRCm39)	missense	probably damaging	0.99
R6919:Ankrd36	UTSW	11	5,579,299 (GRCm39)	missense	probably benign
R7007:Ankrd36	UTSW	11	5,639,168 (GRCm39)	missense	probably benign	0.00
R7515:Ankrd36	UTSW	11	5,578,905 (GRCm39)	missense	possibly damaging	0.94
R7617:Ankrd36	UTSW	11	5,637,348 (GRCm39)	missense	probably benign	0.33
R7684:Ankrd36	UTSW	11	5,520,113 (GRCm39)	missense	possibly damaging	0.49
R7746:Ankrd36	UTSW	11	5,637,451 (GRCm39)	missense	possibly damaging	0.96
R7783:Ankrd36	UTSW	11	5,585,359 (GRCm39)	missense	probably damaging	0.99
R7790:Ankrd36	UTSW	11	5,585,176 (GRCm39)	missense	possibly damaging	0.80
R8221:Ankrd36	UTSW	11	5,534,016 (GRCm39)	missense	possibly damaging	0.53
R8671:Ankrd36	UTSW	11	5,579,312 (GRCm39)	missense	probably benign	0.05
R8732:Ankrd36	UTSW	11	5,578,906 (GRCm39)	missense	possibly damaging	0.90
R8768:Ankrd36	UTSW	11	5,593,763 (GRCm39)	missense	probably benign	0.00
R9026:Ankrd36	UTSW	11	5,610,696 (GRCm39)	missense	probably benign
R9093:Ankrd36	UTSW	11	5,589,132 (GRCm39)	missense	probably benign
R9211:Ankrd36	UTSW	11	5,612,370 (GRCm39)	missense	possibly damaging	0.85
R9300:Ankrd36	UTSW	11	5,519,979 (GRCm39)	missense	possibly damaging	0.84
R9644:Ankrd36	UTSW	11	5,593,835 (GRCm39)	missense	possibly damaging	0.90
RF004:Ankrd36	UTSW	11	5,612,411 (GRCm39)	missense	possibly damaging	0.53
U24488:Ankrd36	UTSW	11	5,580,772 (GRCm39)	missense	probably damaging	0.99
Z1176:Ankrd36	UTSW	11	5,565,538 (GRCm39)	missense	probably benign
Z1177:Ankrd36	UTSW	11	5,593,738 (GRCm39)	missense	probably damaging	0.96
Z1177:Ankrd36	UTSW	11	5,579,345 (GRCm39)	missense	probably benign	0.01
Z1177:Ankrd36	UTSW	11	5,521,117 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-12-03