Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03204:Ankrd36'

413074

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: 0.053) question?

Stock #

IGL03204

Quality Score

Status

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5534023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 291 (D291E)

Ref Sequence

ENSEMBL: ENSMUSP00000122397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109855] [ENSMUST00000109856] [ENSMUST00000118112]

AlphaFold

D3Z4K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109855
AA Change: D291E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105481
Gene: ENSMUSG00000020481
AA Change: D291E

Domain	Start	End	E-Value	Type
Blast:ANK	29	62	5e-13	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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: D291E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: D291E

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

possibly damaging
Transcript: ENSMUST00000118112
AA Change: D291E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: D291E

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: ENSMUST00000146773

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14a	A	T	9: 106,317,834 (GRCm39)	F191I	probably damaging	Het
Actc1	A	T	2: 113,880,011 (GRCm39)	S201T	possibly damaging	Het
Bltp1	A	G	3: 37,105,083 (GRCm39)		probably benign	Het
Btbd7	T	A	12: 102,774,239 (GRCm39)	R510*	probably null	Het
Cfap20dc	A	G	14: 8,644,436 (GRCm38)	I80T	possibly damaging	Het
Eif4a3	A	T	11: 119,184,442 (GRCm39)	D249E	possibly damaging	Het
Elovl6	A	G	3: 129,426,993 (GRCm39)	M220V	probably benign	Het
Ets1	C	T	9: 32,644,308 (GRCm39)	S156L	possibly damaging	Het
Gja8	C	T	3: 96,827,408 (GRCm39)	V85I	probably damaging	Het
Glipr2	T	A	4: 43,970,507 (GRCm39)	D7E	probably benign	Het
Il22	C	T	10: 118,041,085 (GRCm39)		probably benign	Het
Itln1	A	G	1: 171,358,172 (GRCm39)	V80A	probably damaging	Het
Kdr	A	T	5: 76,133,042 (GRCm39)	C79S	possibly damaging	Het
Kif26a	A	T	12: 112,141,213 (GRCm39)	H672L	probably damaging	Het
Klhl40	A	T	9: 121,611,696 (GRCm39)	T570S	probably benign	Het
Macf1	A	G	4: 123,249,070 (GRCm39)		probably benign	Het
Magi3	T	A	3: 104,013,151 (GRCm39)	N112I	probably damaging	Het
Moxd2	T	C	6: 40,864,239 (GRCm39)	T64A	probably benign	Het
Myh4	T	C	11: 67,141,122 (GRCm39)	V728A	possibly damaging	Het
Or8u10	G	T	2: 85,916,015 (GRCm39)	Y35*	probably null	Het
Prkdc	A	G	16: 15,587,665 (GRCm39)	I2517V	probably benign	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Smg9	A	G	7: 24,120,337 (GRCm39)	E437G	probably benign	Het
Snx4	A	G	16: 33,090,039 (GRCm39)	K188R	probably benign	Het
Sox14	A	G	9: 99,757,110 (GRCm39)	S210P	probably benign	Het
Spata1	A	G	3: 146,194,434 (GRCm39)	F77L	probably benign	Het
Spata18	G	T	5: 73,828,449 (GRCm39)		probably benign	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Wdr59	T	C	8: 112,212,002 (GRCm39)	H356R	probably benign	Het
Zfp462	A	G	4: 55,080,785 (GRCm39)	D1380G	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
IGL01524:Ankrd36	APN	11	5,585,092 (GRCm39)	missense	probably benign
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
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

2016-08-02