Mutagenetix > Incidental Mutation

Incidental Mutation 'R6289:Ankrd36'

508304

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

GC3, 1700012M14Rik, 1700008J08Rik

MMRRC Submission

044459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5578837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 34 (S34P)

Ref Sequence

ENSEMBL: ENSMUSP00000120499 (fasta)

Gene Model

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

AlphaFold

D3Z4K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: S677P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: S677P

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: S709P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: S709P

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

probably damaging
Transcript: ENSMUST00000137933
AA Change: S34P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: S34P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,607,480 (GRCm39)	V94A	probably damaging	Het
Arid3c	G	A	4: 41,724,285 (GRCm39)		probably benign	Het
Atg16l1	C	T	1: 87,683,937 (GRCm39)	R6C	probably damaging	Het
Bex6	A	G	16: 32,005,530 (GRCm39)	I113V	probably benign	Het
Blk	T	C	14: 63,613,341 (GRCm39)		probably null	Het
C1s1	A	G	6: 124,508,135 (GRCm39)	F618S	probably damaging	Het
Casp8ap2	C	T	4: 32,639,590 (GRCm39)	H215Y	probably damaging	Het
Casp9	T	A	4: 141,534,496 (GRCm39)	V302E	probably damaging	Het
Ccl2	A	C	11: 81,927,795 (GRCm39)	K80Q	probably benign	Het
Cit	T	G	5: 116,144,385 (GRCm39)	*2014E	probably null	Het
Dclk2	A	T	3: 86,739,124 (GRCm39)	S292T	probably benign	Het
Ddx23	T	C	15: 98,547,765 (GRCm39)	E463G	probably benign	Het
Dennd1b	T	C	1: 139,096,683 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fgf10	C	A	13: 118,852,028 (GRCm39)	Q37K	probably benign	Het
Fgf22	A	G	10: 79,591,041 (GRCm39)	D24G	probably damaging	Het
Gabra1	A	G	11: 42,045,846 (GRCm39)	I88T	probably damaging	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
H1f5	G	T	13: 21,964,609 (GRCm39)	P39Q	probably damaging	Het
Hpse2	T	A	19: 42,777,418 (GRCm39)	N583Y	probably null	Het
Katnal2	A	G	18: 77,105,151 (GRCm39)		probably null	Het
Keg1	T	G	19: 12,691,937 (GRCm39)	C85G	probably damaging	Het
Kidins220	T	A	12: 25,106,615 (GRCm39)	L1356H	probably damaging	Het
Lifr	A	G	15: 7,196,391 (GRCm39)	K192E	probably benign	Het
Mks1	T	C	11: 87,750,485 (GRCm39)		probably null	Het
Or5b110-ps1	T	C	19: 13,260,158 (GRCm39)	K88R	possibly damaging	Het
Rars1	C	T	11: 35,716,894 (GRCm39)	M207I	probably damaging	Het
Rbm6	T	C	9: 107,655,147 (GRCm39)	Y896C	probably damaging	Het
Scarf1	T	A	11: 75,416,242 (GRCm39)	W472R	possibly damaging	Het
Septin8	A	G	11: 53,425,305 (GRCm39)	N66S	probably damaging	Het
Smcr8	T	C	11: 60,669,424 (GRCm39)	F191L	probably damaging	Het
Tdrd6	A	G	17: 43,935,411 (GRCm39)	M1879T	probably benign	Het
Tlr3	C	T	8: 45,849,966 (GRCm39)	R901Q	probably benign	Het
Trpc4ap	T	C	2: 155,505,627 (GRCm39)	T203A	possibly damaging	Het
Tubgcp5	A	G	7: 55,445,671 (GRCm39)	S58G	probably benign	Het
Ubtd2	A	G	11: 32,466,177 (GRCm39)	E132G	probably damaging	Het
Uggt2	T	A	14: 119,279,014 (GRCm39)	E831V	probably damaging	Het
Umodl1	A	G	17: 31,201,325 (GRCm39)	N418S	probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Wdhd1	A	C	14: 47,495,953 (GRCm39)	I637S	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
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
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

Predicted Primers

Posted On

2018-03-15