Mutagenetix > Incidental Mutation

Incidental Mutation 'R5825:Atxn7l2'

450114

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l2

Ensembl Gene

ENSMUSG00000048997

Gene Name

ataxin 7-like 2

Synonyms

2610528J18Rik

MMRRC Submission

044053-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108109538-108117843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108112127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 320 (A320S)

Ref Sequence

ENSEMBL: ENSMUSP00000113020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065664] [ENSMUST00000102633] [ENSMUST00000106654] [ENSMUST00000106655] [ENSMUST00000117409] [ENSMUST00000117784] [ENSMUST00000119650] [ENSMUST00000127157]

AlphaFold

Q8C8K6

Predicted Effect

probably benign
Transcript: ENSMUST00000065664

SMART Domains

Protein: ENSMUSP00000070361
Gene: ENSMUSG00000048796

Domain	Start	End	E-Value	Type
B561	1	127	5.49e-40	SMART
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102633
AA Change: A355S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: A355S

Domain	Start	End	E-Value	Type
low complexity region	55	63	N/A	INTRINSIC
Pfam:SCA7	198	265	3.9e-29	PFAM
low complexity region	333	352	N/A	INTRINSIC
low complexity region	356	363	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC
low complexity region	515	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106654

SMART Domains

Protein: ENSMUSP00000102265
Gene: ENSMUSG00000048796

Domain	Start	End	E-Value	Type
B561	1	127	5.49e-40	SMART
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106655

SMART Domains

Protein: ENSMUSP00000102266
Gene: ENSMUSG00000048796

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
B561	54	185	4.96e-47	SMART
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117409
AA Change: A323S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: A323S

Domain	Start	End	E-Value	Type
low complexity region	55	63	N/A	INTRINSIC
Pfam:SCA7	164	235	1.2e-31	PFAM
low complexity region	301	320	N/A	INTRINSIC
low complexity region	324	331	N/A	INTRINSIC
low complexity region	403	420	N/A	INTRINSIC
low complexity region	483	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117784
AA Change: A355S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: A355S

Domain	Start	End	E-Value	Type
low complexity region	55	63	N/A	INTRINSIC
Pfam:SCA7	196	267	1.6e-31	PFAM
low complexity region	333	352	N/A	INTRINSIC
low complexity region	356	363	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC
low complexity region	515	532	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119650
AA Change: A320S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: A320S

Domain	Start	End	E-Value	Type
low complexity region	20	28	N/A	INTRINSIC
Pfam:SCA7	161	232	1.2e-31	PFAM
low complexity region	298	317	N/A	INTRINSIC
low complexity region	321	328	N/A	INTRINSIC
low complexity region	400	417	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196823

Predicted Effect

probably benign
Transcript: ENSMUST00000127157

SMART Domains

Protein: ENSMUSP00000119223
Gene: ENSMUSG00000048997

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	23	45	1e-5	BLAST
low complexity region	55	63	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,976 (GRCm39)	Y217*	probably null	Het
Abca2	A	T	2: 25,326,748 (GRCm39)	I567F	probably benign	Het
Acss2	T	A	2: 155,391,098 (GRCm39)		probably null	Het
Bfsp1	C	T	2: 143,669,379 (GRCm39)	G400D	probably benign	Het
Ces5a	G	T	8: 94,252,295 (GRCm39)	A199D	probably damaging	Het
Cfhr4	T	A	1: 139,702,336 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,134,350 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,905,606 (GRCm39)	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,395,451 (GRCm39)	Q58L	probably benign	Het
Dlec1	T	A	9: 118,972,036 (GRCm39)	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,017,427 (GRCm39)	H593R	probably benign	Het
Ep300	T	A	15: 81,495,673 (GRCm39)	C412S	probably benign	Het
Fam110a	A	G	2: 151,811,961 (GRCm39)	S270P	probably damaging	Het
Gcc2	A	G	10: 58,130,643 (GRCm39)	T1412A	probably damaging	Het
Helz2	T	C	2: 180,874,449 (GRCm39)	E2015G	probably benign	Het
Hormad1	T	C	3: 95,469,870 (GRCm39)	V39A	probably damaging	Het
Igf2	G	T	7: 142,207,592 (GRCm39)	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,570,726 (GRCm39)	T223A	probably benign	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896 (GRCm39)	V886E	probably benign	Het
Klra1	T	C	6: 130,357,592 (GRCm39)	R12G	probably damaging	Het
Lamb1	A	G	12: 31,368,613 (GRCm39)	I1248V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk7	C	T	11: 61,381,207 (GRCm39)	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,095,193 (GRCm39)	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Ninl	A	T	2: 150,782,644 (GRCm39)	I1182N	probably damaging	Het
Nup160	A	G	2: 90,510,114 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,683 (GRCm39)	R451G	probably benign	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Or5h22	T	C	16: 58,895,024 (GRCm39)	I140V	probably benign	Het
Osbp	A	G	19: 11,948,085 (GRCm39)	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,901,556 (GRCm39)	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,895,289 (GRCm39)	V120I	probably benign	Het
Pdgfb	A	T	15: 79,881,869 (GRCm39)	V213E	probably benign	Het
Phldb2	T	C	16: 45,583,460 (GRCm39)	M1013V	probably benign	Het
Pnma8a	A	G	7: 16,695,020 (GRCm39)	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,182 (GRCm39)	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,661,136 (GRCm39)	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,646,392 (GRCm39)	S58R	probably damaging	Het
Traf3	C	A	12: 111,221,795 (GRCm39)	Q319K	probably benign	Het
Trappc8	C	T	18: 21,006,977 (GRCm39)	V194M	probably damaging	Het
Tyw1	A	G	5: 130,296,929 (GRCm39)	K182R	probably damaging	Het
Usp48	A	G	4: 137,350,689 (GRCm39)	T585A	probably benign	Het
Xkr6	G	T	14: 64,056,481 (GRCm39)	V387L	probably benign	Het
Yod1	T	C	1: 130,646,743 (GRCm39)	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,046,538 (GRCm39)	S63G	probably null	Het
Zfp827	A	G	8: 79,905,645 (GRCm39)	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531 (GRCm39)	K411N	possibly damaging	Het

Other mutations in Atxn7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Atxn7l2	APN	3	108,110,859 (GRCm39)	missense	probably damaging	1.00
IGL02381:Atxn7l2	APN	3	108,111,811 (GRCm39)	unclassified	probably benign
IGL03179:Atxn7l2	APN	3	108,110,963 (GRCm39)	nonsense	probably null
R0610:Atxn7l2	UTSW	3	108,112,090 (GRCm39)	missense	possibly damaging	0.80
R1454:Atxn7l2	UTSW	3	108,115,748 (GRCm39)	unclassified	probably benign
R2474:Atxn7l2	UTSW	3	108,111,293 (GRCm39)	missense	probably damaging	0.96
R4319:Atxn7l2	UTSW	3	108,113,148 (GRCm39)	missense	probably damaging	1.00
R4322:Atxn7l2	UTSW	3	108,113,148 (GRCm39)	missense	probably damaging	1.00
R4324:Atxn7l2	UTSW	3	108,113,148 (GRCm39)	missense	probably damaging	1.00
R4797:Atxn7l2	UTSW	3	108,111,866 (GRCm39)	missense	probably damaging	1.00
R5916:Atxn7l2	UTSW	3	108,112,978 (GRCm39)	splice site	probably null
R7706:Atxn7l2	UTSW	3	108,114,719 (GRCm39)	missense	probably damaging	0.98
R8109:Atxn7l2	UTSW	3	108,110,617 (GRCm39)	missense	probably damaging	1.00
R8470:Atxn7l2	UTSW	3	108,114,285 (GRCm39)	missense	probably benign	0.00
R8768:Atxn7l2	UTSW	3	108,114,250 (GRCm39)	missense	probably benign	0.00
R8984:Atxn7l2	UTSW	3	108,116,290 (GRCm39)	unclassified	probably benign
R9011:Atxn7l2	UTSW	3	108,114,756 (GRCm39)	missense	probably benign	0.00
R9784:Atxn7l2	UTSW	3	108,110,565 (GRCm39)	missense	probably null	0.90
Z1176:Atxn7l2	UTSW	3	108,112,982 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATAGCATCCTGGGCTCAC -3'
(R):5'- CTGTTTGAGAGAGCTCGGAC -3'

Sequencing Primer
(F):5'- GCTTCCAAATGTGCAAAACTGG -3'
(R):5'- AGAGAGCTCGGACACCCTC -3'

Posted On

2016-12-20