Mutagenetix > Incidental Mutations

Incidental Mutation 'R7783:Ankrd36'

599390

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

1700012M14Rik, 1700008J08Rik, GC3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7783 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5569684-5689337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5635359 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 390 (L390P)

Ref Sequence

ENSEMBL: ENSMUSP00000120499 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: L1032P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: L1032P

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: L1065P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: L1065P

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: L390P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: L390P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,078,812	Y447*	probably null	Het
Abl2	T	C	1: 156,559,071	V8A	probably benign	Het
Adam33	C	T	2: 131,058,337	R103K	unknown	Het
Adamts13	G	T	2: 26,990,585	A727S	not run	Het
Alpk2	A	T	18: 65,306,254	C689*	probably null	Het
Amt	C	T	9: 108,297,215	Q60*	probably null	Het
Ankrd12	A	G	17: 66,027,250		probably null	Het
Ankrd28	A	T	14: 31,706,813	N920K	probably damaging	Het
Arvcf	T	G	16: 18,389,198	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978	S367P	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
C7	T	A	15: 5,007,710	H562L	probably benign	Het
Ccdc77	T	C	6: 120,350,373	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,404,587	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,336,025		probably null	Het
Corin	A	T	5: 72,301,624	F1068L	probably benign	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Ercc3	T	A	18: 32,248,243	S371T	probably damaging	Het
Fam193a	A	C	5: 34,431,180	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,257,522	C205Y	probably benign	Het
Fh1	G	A	1: 175,612,178	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,252,551		probably benign	Het
Gabra6	T	C	11: 42,316,462	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm996	A	T	2: 25,577,808	L697Q	probably damaging	Het
Grm6	T	A	11: 50,863,082	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,428,569		probably benign	Het
Hcrtr2	T	A	9: 76,232,914	Y364F	probably damaging	Het
Ick	G	T	9: 78,135,645	V51F	probably damaging	Het
Ifit1bl1	T	C	19: 34,593,936	I374V	probably benign	Het
Il31ra	A	T	13: 112,541,251	F250L	probably benign	Het
Iqgap1	A	G	7: 80,809,059	V37A	probably benign	Het
Izumo3	A	T	4: 92,145,023	I182K	probably damaging	Het
Kidins220	G	A	12: 24,988,556	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,244,253	R231L	probably damaging	Het
Micalcl	A	T	7: 112,412,976	S678C	probably damaging	Het
Mme	T	G	3: 63,364,867	F629C	probably damaging	Het
Muc5b	T	A	7: 141,857,341	H1341Q	unknown	Het
Olfr1339	T	A	4: 118,734,902	D124E	probably damaging	Het
Olfr1391	A	G	11: 49,328,202	S264G	probably benign	Het
Olfr495	A	G	7: 108,396,089	H323R	probably benign	Het
Olfr513	A	T	7: 108,755,569	T238S	probably damaging	Het
Olfr61	A	G	7: 140,637,724	T8A	possibly damaging	Het
Parm1	A	T	5: 91,593,865	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,489,821	C68Y	probably benign	Het
Pkn3	A	T	2: 30,079,622	E35V	probably damaging	Het
Pla2g4a	A	T	1: 149,872,744	Y238N	probably damaging	Het
Pld6	T	C	11: 59,787,271	D122G	probably damaging	Het
Prag1	G	T	8: 36,103,255	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,168,829	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,773,654	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,805,469	V766A	probably benign	Het
Spata18	A	G	5: 73,668,610	T87A		Het
St3gal3	T	C	4: 117,940,123	M308V	probably benign	Het
Stx19	T	C	16: 62,822,286	L155S	probably benign	Het
Tespa1	A	T	10: 130,356,883	T145S	probably damaging	Het
Timm21	A	C	18: 84,947,721	F221V	possibly damaging	Het
Tlr1	A	T	5: 64,924,921	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,358,623	L125I	unknown	Het
Try4	T	C	6: 41,302,295	L4P	possibly damaging	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Txndc16	A	T	14: 45,144,960	N609K	probably benign	Het
Upf1	T	C	8: 70,352,858	T46A	probably benign	Het
Zfp266	T	C	9: 20,500,330	N184D	probably benign	Het
Zfp407	A	G	18: 84,209,922	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,818,370	C259S	possibly damaging	Het

Other mutations in Ankrd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ankrd36	APN	11	5620131	missense	probably benign	0.01
IGL01361:Ankrd36	APN	11	5596706	splice site	probably benign
IGL01370:Ankrd36	APN	11	5584019	missense	probably benign	0.06
IGL01384:Ankrd36	APN	11	5628348	missense	probably benign	0.33
IGL01484:Ankrd36	APN	11	5629006	missense	possibly damaging	0.90
IGL01524:Ankrd36	APN	11	5635092	missense	probably benign
IGL01700:Ankrd36	APN	11	5632198	missense	probably benign	0.05
IGL02322:Ankrd36	APN	11	5614619	missense	possibly damaging	0.86
IGL02511:Ankrd36	APN	11	5660845	splice site	probably null
IGL02824:Ankrd36	APN	11	5574246	missense	possibly damaging	0.67
IGL03204:Ankrd36	APN	11	5584023	missense	possibly damaging	0.70
PIT4508001:Ankrd36	UTSW	11	5607137	missense	possibly damaging	0.53
R0058:Ankrd36	UTSW	11	5630691	splice site	probably benign
R0058:Ankrd36	UTSW	11	5630691	splice site	probably benign
R0304:Ankrd36	UTSW	11	5628981	missense	possibly damaging	0.55
R0504:Ankrd36	UTSW	11	5629274	missense	probably damaging	0.99
R0550:Ankrd36	UTSW	11	5607429	critical splice donor site	probably null
R0563:Ankrd36	UTSW	11	5629322	missense	probably benign	0.33
R0891:Ankrd36	UTSW	11	5687316	missense	possibly damaging	0.72
R1018:Ankrd36	UTSW	11	5646876	unclassified	probably benign
R1468:Ankrd36	UTSW	11	5575752	missense	probably damaging	0.99
R1468:Ankrd36	UTSW	11	5575752	missense	probably damaging	0.99
R1558:Ankrd36	UTSW	11	5635329	missense	probably damaging	0.99
R1663:Ankrd36	UTSW	11	5620126	missense	possibly damaging	0.70
R1682:Ankrd36	UTSW	11	5607143	missense	possibly damaging	0.84
R1898:Ankrd36	UTSW	11	5575683	missense	probably benign	0.33
R2019:Ankrd36	UTSW	11	5689140	missense	probably benign
R2032:Ankrd36	UTSW	11	5628616	missense	possibly damaging	0.86
R2084:Ankrd36	UTSW	11	5662378	nonsense	probably null
R4097:Ankrd36	UTSW	11	5628703	missense	possibly damaging	0.85
R4572:Ankrd36	UTSW	11	5689340	splice site	probably null
R4601:Ankrd36	UTSW	11	5570102	missense	probably benign	0.04
R4770:Ankrd36	UTSW	11	5590870	missense	possibly damaging	0.73
R4777:Ankrd36	UTSW	11	5607120	missense	probably benign
R4894:Ankrd36	UTSW	11	5635332	missense	probably damaging	0.98
R5288:Ankrd36	UTSW	11	5689340	unclassified	probably benign
R5366:Ankrd36	UTSW	11	5592841	nonsense	probably null
R5384:Ankrd36	UTSW	11	5689340	unclassified	probably benign
R5385:Ankrd36	UTSW	11	5689340	unclassified	probably benign
R6109:Ankrd36	UTSW	11	5628941	missense	probably damaging	0.98
R6155:Ankrd36	UTSW	11	5687442	missense	probably benign	0.00
R6186:Ankrd36	UTSW	11	5643812	missense	possibly damaging	0.81
R6289:Ankrd36	UTSW	11	5628837	missense	probably damaging	0.96
R6476:Ankrd36	UTSW	11	5628753	missense	probably benign	0.05
R6816:Ankrd36	UTSW	11	5643765	missense	possibly damaging	0.66
R6880:Ankrd36	UTSW	11	5628748	missense	probably damaging	0.99
R6919:Ankrd36	UTSW	11	5629299	missense	probably benign
R7007:Ankrd36	UTSW	11	5689168	missense	probably benign	0.00
R7515:Ankrd36	UTSW	11	5628905	missense	possibly damaging	0.94
R7617:Ankrd36	UTSW	11	5687348	missense	probably benign	0.33
R7684:Ankrd36	UTSW	11	5570113	missense	possibly damaging	0.49
R7746:Ankrd36	UTSW	11	5687451	missense	possibly damaging	0.96
R7790:Ankrd36	UTSW	11	5635176	missense	possibly damaging	0.80
R8221:Ankrd36	UTSW	11	5584016	missense	possibly damaging	0.53
R8671:Ankrd36	UTSW	11	5629312	missense	probably benign	0.05
R8732:Ankrd36	UTSW	11	5628906	missense	possibly damaging	0.90
R8768:Ankrd36	UTSW	11	5643763	missense	probably benign	0.00
RF004:Ankrd36	UTSW	11	5662411	missense	possibly damaging	0.53
U24488:Ankrd36	UTSW	11	5630772	missense	probably damaging	0.99
Z1176:Ankrd36	UTSW	11	5615538	missense	probably benign
Z1177:Ankrd36	UTSW	11	5571117	missense	probably damaging	0.97
Z1177:Ankrd36	UTSW	11	5629345	missense	probably benign	0.01
Z1177:Ankrd36	UTSW	11	5643738	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAAAGAATGTGCACCAGGAC -3'
(R):5'- GCATGCTACGTCCTTACACG -3'

Sequencing Primer
(F):5'- GGACATCCAGAAGTTCCTTCAGTG -3'
(R):5'- GCTAAGCTCGTGTTCAGACCAAG -3'

Posted On

2019-11-26