Mutagenetix > Incidental Mutations

Incidental Mutation 'R7268:Ankle1'

565079

Institutional Source

Beutler Lab

Gene Symbol

Ankle1

Ensembl Gene

ENSMUSG00000046295

Gene Name

ankyrin repeat and LEM domain containing 1

Synonyms

8430438L13Rik, Ankrd41

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71406010-71409904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71407545 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

Ref Sequence

ENSEMBL: ENSMUSP00000113162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000119976] [ENSMUST00000120725]

Predicted Effect

probably benign
Transcript: ENSMUST00000002473

SMART Domains

Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
low complexity region	321	331	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119976
AA Change: T256A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
AA Change: T256A

Domain	Start	End	E-Value	Type
ANK	6	35	7.52e2	SMART
ANK	39	71	4.01e0	SMART
ANK	75	104	2.37e-2	SMART
ANK	108	139	1.99e2	SMART
low complexity region	177	193	N/A	INTRINSIC
Pfam:LEM	282	319	4.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120725
AA Change: T236A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
AA Change: T236A

Domain	Start	End	E-Value	Type
ANK	6	35	7.52e2	SMART
ANK	39	71	4.01e0	SMART
ANK	75	104	2.37e-2	SMART
ANK	108	139	1.99e2	SMART
low complexity region	157	173	N/A	INTRINSIC
Pfam:LEM	261	300	1.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212383

Meta Mutation Damage Score

0.1012

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (72/73)

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene causes no overt phenotype or detectable defects in hematopoiesis. Mouse embryonic fibroblasts do not show an impaired DNA damage response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abl2	T	C	1: 156,633,939		probably null	Het
Acsf3	A	G	8: 122,790,662	Y399C	probably benign	Het
Acsm5	A	T	7: 119,537,288	T361S	probably benign	Het
Agap1	T	G	1: 89,766,348	I456S	probably benign	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
Alb	T	A	5: 90,462,716	S52T	probably benign	Het
Armt1	G	A	10: 4,450,855	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,467,729	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,719,866	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,215,042	W578R	possibly damaging	Het
Babam2	T	C	5: 31,701,853	S2P	probably damaging	Het
Baz2a	A	G	10: 128,124,221	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,604,426	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,370,588	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,273,745		probably null	Het
Car10	A	G	11: 93,599,251	N273D	probably benign	Het
Ccdc66	T	C	14: 27,486,923	D458G	probably benign	Het
Ccdc7a	T	A	8: 128,881,152	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,207,398	K386E	possibly damaging	Het
Ctcfl	A	G	2: 173,107,795	I415T	probably benign	Het
Cyp3a16	G	C	5: 145,467,470	Y54*	probably null	Het
Dact2	T	C	17: 14,196,535	T468A	probably benign	Het
Dgkb	T	A	12: 38,147,555	L355*	probably null	Het
Dhx40	A	T	11: 86,806,616	C42S	possibly damaging	Het
Dopey1	G	T	9: 86,512,777	E637*	probably null	Het
Dpp4	G	T	2: 62,347,842	P649T	probably damaging	Het
Eri3	T	A	4: 117,649,383	I303K	probably benign	Het
Foxi1	A	T	11: 34,205,783	Y282*	probably null	Het
Gdi2	T	A	13: 3,556,363	Y146*	probably null	Het
Gns	A	G	10: 121,376,652	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,858,371	P494Q	possibly damaging	Het
Habp2	G	T	19: 56,314,086	G274V	probably damaging	Het
Hcfc2	T	A	10: 82,709,012	Y159*	probably null	Het
Hmcn2	T	A	2: 31,457,966	S4875T	possibly damaging	Het
Hmgcs2	A	G	3: 98,297,480	N318S	probably benign	Het
Lnpep	A	T	17: 17,538,541	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366	M374L	probably benign	Het
Mrpl38	A	G	11: 116,138,570	I40T	possibly damaging	Het
Ncstn	T	C	1: 172,081,263	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,124,242	V61I	probably benign	Het
Npas2	G	T	1: 39,287,577	V48L	probably damaging	Het
Olfr1339	A	G	4: 118,735,408	Y293C	probably damaging	Het
Olfr655	G	A	7: 104,597,077	L35F	probably benign	Het
Olfr782	C	T	10: 129,351,394	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,391,731	N268K	possibly damaging	Het
Pramef17	A	T	4: 143,993,520		probably null	Het
Prr27	T	C	5: 87,843,276	L249P	probably damaging	Het
Psat1	A	T	19: 15,917,144	V168D	probably damaging	Het
Psg17	G	T	7: 18,814,661	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,206,756	Y447H	probably benign	Het
Rad50	T	A	11: 53,684,275	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,295,263	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,142,124	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,315,053	D331Y	probably damaging	Het
Slc9c1	G	A	16: 45,550,116	S240N	probably damaging	Het
Slf1	A	G	13: 77,066,707	L620P	probably damaging	Het
Snx19	A	G	9: 30,440,177	E847G	probably damaging	Het
Spaca6	T	C	17: 17,832,107	V103A	probably benign	Het
Tbk1	A	G	10: 121,552,499	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tfap2a	G	A	13: 40,728,760	T15I	possibly damaging	Het
Tgm2	G	A	2: 158,120,268	R544*	probably null	Het
Tmem116	T	A	5: 121,467,855	I90K		Het
Tmem30c	A	C	16: 57,266,414	L342R	probably damaging	Het
Trpm6	C	T	19: 18,778,585	T64I	probably benign	Het
Ttll8	A	G	15: 88,934,956		probably null	Het
Vcpip1	A	G	1: 9,746,082	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,577,428	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,893,953	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,340,465	Y401*	probably null	Het
Wdr91	A	G	6: 34,892,440	V383A	probably benign	Het

Other mutations in Ankle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Ankle1	APN	8	71406259	missense	probably damaging	1.00
IGL02558:Ankle1	APN	8	71408992	missense	probably damaging	1.00
IGL02938:Ankle1	APN	8	71406252	missense	probably damaging	1.00
R0358:Ankle1	UTSW	8	71407545	missense	probably damaging	1.00
R1313:Ankle1	UTSW	8	71407213	missense	possibly damaging	0.61
R1313:Ankle1	UTSW	8	71407213	missense	possibly damaging	0.61
R1681:Ankle1	UTSW	8	71407618	missense	probably benign	0.00
R1776:Ankle1	UTSW	8	71409274	missense	probably damaging	0.99
R2070:Ankle1	UTSW	8	71409344	missense	probably damaging	1.00
R2073:Ankle1	UTSW	8	71409329	missense	possibly damaging	0.94
R2116:Ankle1	UTSW	8	71407918	missense	probably benign	0.13
R2117:Ankle1	UTSW	8	71407918	missense	probably benign	0.13
R4610:Ankle1	UTSW	8	71407207	intron	probably benign
R5027:Ankle1	UTSW	8	71408979	missense	probably damaging	1.00
R7051:Ankle1	UTSW	8	71407743	missense	probably damaging	0.99
R7795:Ankle1	UTSW	8	71408693	missense	probably damaging	0.99
R7900:Ankle1	UTSW	8	71407417	missense	probably damaging	1.00
R7983:Ankle1	UTSW	8	71407417	missense	probably damaging	1.00
R8046:Ankle1	UTSW	8	71408021	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGCATAGAGCTGAGCTG -3'
(R):5'- CGTAGATAGTGTCCTCTGGTGAAAG -3'

Sequencing Primer
(F):5'- TGCATCCCCAGAGCTCTGAG -3'
(R):5'- CCTCTGGTGAAAGGTGTGAC -3'

Posted On

2019-06-26