Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4508001:Ankrd36'

556232

Institutional Source

Beutler Lab

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 #

PIT4508001 (G1)

Quality Score

108.008

Status

Not validated

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5557137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 330 (T330A)

Ref Sequence

ENSEMBL: ENSMUSP00000105482 (fasta)

Gene Model

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

AlphaFold

D3Z4K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: T330A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: T330A

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: T362A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: T362A

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

Coding Region Coverage

1x: 93.4%
3x: 90.7%
10x: 84.6%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,176,128 (GRCm39)	T1228A	probably damaging	Het
Actg2	A	T	6: 83,489,989 (GRCm39)	I370N	possibly damaging	Het
Atrip	C	T	9: 108,903,057 (GRCm39)	A6T	possibly damaging	Het
Bms1	G	A	6: 118,360,767 (GRCm39)	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,989,230 (GRCm39)	T487S	probably benign	Het
Cert1	T	C	13: 96,767,284 (GRCm39)	F478S	probably damaging	Het
Esco2	A	T	14: 66,068,914 (GRCm39)	V132E	probably damaging	Het
Gjb5	A	T	4: 127,250,033 (GRCm39)	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,324,234 (GRCm39)	Y24F		Het
H2bc8	CTCGACCATCACGTC	CTC	13: 23,755,867 (GRCm39)		probably benign	Het
H2-Q6	T	C	17: 35,644,796 (GRCm39)	L195P	probably damaging	Het
Hc	T	C	2: 34,874,816 (GRCm39)	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Itga3	T	C	11: 94,946,719 (GRCm39)	H730R	probably benign	Het
Kif1a	A	T	1: 92,974,451 (GRCm39)	L866Q	probably damaging	Het
Krt81	A	T	15: 101,360,606 (GRCm39)	L127Q	probably damaging	Het
Mdn1	T	C	4: 32,719,223 (GRCm39)	I2262T	probably damaging	Het
Mxd3	A	T	13: 55,473,707 (GRCm39)	D170E	probably benign	Het
Myh2	A	G	11: 67,076,331 (GRCm39)	M811V	probably benign	Het
Naa16	A	T	14: 79,606,527 (GRCm39)	D335E	probably benign	Het
Nkd1	A	G	8: 89,249,028 (GRCm39)	T58A	probably benign	Het
Ogfrl1	T	A	1: 23,409,351 (GRCm39)	R292*	probably null	Het
Or52e2	T	A	7: 102,804,520 (GRCm39)	M145L	probably benign	Het
Or5w13	G	A	2: 87,524,059 (GRCm39)	H56Y	probably damaging	Het
Pom121l12	A	G	11: 14,549,689 (GRCm39)	R132G	possibly damaging	Het
Prss46	A	G	9: 110,680,484 (GRCm39)	K210E	probably damaging	Het
Scn8a	T	C	15: 100,927,573 (GRCm39)	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,085,344 (GRCm39)	V318I	probably benign	Het
Slc41a2	T	G	10: 83,090,744 (GRCm39)	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,722,892 (GRCm39)	A331S	probably benign	Het
Smg1	A	T	7: 117,784,764 (GRCm39)	F885I	unknown	Het
Speer4f1	T	C	5: 17,685,412 (GRCm39)	S236P	unknown	Het
Zfp326	A	T	5: 106,062,556 (GRCm39)	Q475L	probably benign	Het
Zzef1	T	G	11: 72,786,002 (GRCm39)	V2058G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTAAGTGGCATGGAAGGC -3'
(R):5'- AGAGGAACTGATCGGGATTCC -3'

Sequencing Primer
(F):5'- AAGGCTCACTCACAGGTGTTG -3'
(R):5'- AACTGATCGGGATTCCATGTC -3'

Posted On

2019-06-07