Mutagenetix > Incidental Mutation

Incidental Mutation 'R7617:Ankrd36'

588966

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

GC3, 1700012M14Rik, 1700008J08Rik

MMRRC Submission

045684-MU

Accession Numbers

Essential gene?

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

Stock #

R7617 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5637348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1306 (V1306L)

Ref Sequence

ENSEMBL: ENSMUSP00000105482 (fasta)

Gene Model

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

AlphaFold

D3Z4K0

Predicted Effect

probably benign
Transcript: ENSMUST00000109856
AA Change: V1306L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: V1306L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,102,694 (GRCm39)	Y864*	probably null	Het
Abhd2	T	C	7: 78,998,032 (GRCm39)	M188T	probably benign	Het
Adamtsl3	T	A	7: 82,206,054 (GRCm39)		probably null	Het
Ankrd50	C	A	3: 38,538,831 (GRCm39)		probably benign	Het
Btbd2	T	C	10: 80,482,226 (GRCm39)	D258G	probably damaging	Het
Cabin1	C	T	10: 75,568,277 (GRCm39)	R75K	possibly damaging	Het
Carmil3	A	G	14: 55,735,348 (GRCm39)	N507S	probably benign	Het
Cntn1	A	G	15: 92,143,970 (GRCm39)	E311G	probably damaging	Het
Csnk1a1	T	C	18: 61,718,387 (GRCm39)	M371T	unknown	Het
Dnah1	A	T	14: 31,006,739 (GRCm39)	V2192E	possibly damaging	Het
Entrep3	T	A	3: 89,092,278 (GRCm39)	I199N	probably damaging	Het
Grip2	A	C	6: 91,742,031 (GRCm39)		probably null	Het
Gxylt2	G	T	6: 100,760,146 (GRCm39)	W227L	probably damaging	Het
Ighv6-5	G	T	12: 114,380,626 (GRCm39)		probably benign	Het
Jak1	T	A	4: 101,031,408 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,328,345 (GRCm39)	D393G	possibly damaging	Het
Klf10	A	T	15: 38,297,080 (GRCm39)	V320E	probably damaging	Het
Krt87	A	T	15: 101,336,426 (GRCm39)	C76S	probably benign	Het
Myh1	A	G	11: 67,106,701 (GRCm39)	D1261G	possibly damaging	Het
Myo18b	A	C	5: 112,905,319 (GRCm39)		probably null	Het
Or4c124	T	A	2: 89,155,723 (GRCm39)	D267V	probably damaging	Het
Oxct2a	A	C	4: 123,217,150 (GRCm39)	L77R	probably damaging	Het
P2rx2	A	T	5: 110,489,950 (GRCm39)	C172S	probably damaging	Het
P3h3	A	G	6: 124,832,969 (GRCm39)	Y195H	probably damaging	Het
Pex11b	T	C	3: 96,544,107 (GRCm39)		probably null	Het
Ppm1j	T	A	3: 104,691,059 (GRCm39)	Y274*	probably null	Het
Scn9a	A	T	2: 66,370,893 (GRCm39)	D562E	possibly damaging	Het
Slc14a2	A	G	18: 78,203,156 (GRCm39)	V557A	probably benign	Het
Slc9b2	T	C	3: 135,042,221 (GRCm39)	I500T	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tcp10c	T	G	17: 13,576,100 (GRCm39)	L27V	probably damaging	Het
Tktl2	A	G	8: 66,965,651 (GRCm39)	D403G	probably benign	Het
Tmprss13	G	A	9: 45,244,858 (GRCm39)	W212*	probably null	Het
Tspoap1	T	G	11: 87,654,451 (GRCm39)	S244A	probably benign	Het
Upb1	A	C	10: 75,260,368 (GRCm39)	T136P	probably benign	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wwp1	T	C	4: 19,662,188 (GRCm39)	T136A	probably benign	Het
Zfp354a	A	G	11: 50,960,751 (GRCm39)	T320A	probably benign	Het
Zfyve16	A	G	13: 92,641,070 (GRCm39)	Y1225H	probably 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
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
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

PCR Primer
(F):5'- ATTGTGACATTCCTGCTGGG -3'
(R):5'- ACCTGTCACGGACTCAAAAG -3'

Sequencing Primer
(F):5'- GAGGCTGCTATAGAGTATAAGTGAC -3'
(R):5'- AAGCAACCCGGCTCTCTG -3'

Posted On

2019-10-24