Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01994:Atxn7l2'

183621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atxn7l2

Ensembl Gene

ENSMUSG00000048997

Gene Name

ataxin 7-like 2

Synonyms

2610528J18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

IGL01994

Quality Score

Status

Chromosome

Chromosomal Location

108109538-108117843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108110859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 559 (R559Q)

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 damaging
Transcript: ENSMUST00000102633
AA Change: R594Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: R594Q

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: R562Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: R562Q

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 damaging
Transcript: ENSMUST00000117784
AA Change: R594Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: R594Q

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: R559Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: R559Q

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

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	T	13: 12,305,563 (GRCm39)	Y418N	probably benign	Het
Adam15	T	C	3: 89,248,812 (GRCm39)		probably benign	Het
Adam32	C	A	8: 25,392,812 (GRCm39)		probably benign	Het
Adamts12	T	A	15: 11,345,680 (GRCm39)	C1574S	probably damaging	Het
Adck1	T	C	12: 88,397,926 (GRCm39)	S187P	possibly damaging	Het
Atp13a3	A	G	16: 30,156,336 (GRCm39)	V949A	possibly damaging	Het
Atxn3	T	C	12: 101,908,439 (GRCm39)	T138A	probably benign	Het
Bicra	G	T	7: 15,706,741 (GRCm39)	S1233R	possibly damaging	Het
Cacybp	G	T	1: 160,034,206 (GRCm39)	N101K	probably damaging	Het
Cops7b	T	C	1: 86,528,828 (GRCm39)	L185P	probably damaging	Het
Cttnbp2	T	C	6: 18,420,814 (GRCm39)	D899G	possibly damaging	Het
Cyp4f37	C	T	17: 32,844,150 (GRCm39)	R85*	probably null	Het
Dnah3	T	G	7: 119,550,437 (GRCm39)	N3294T	possibly damaging	Het
Elmo1	T	A	13: 20,526,634 (GRCm39)	Y395N	probably damaging	Het
Fam234b	T	A	6: 135,202,203 (GRCm39)	Y308*	probably null	Het
Fam43a	A	G	16: 30,419,481 (GRCm39)	K22E	probably damaging	Het
Fcer2a	T	C	8: 3,738,302 (GRCm39)	N123D	possibly damaging	Het
Gm11595	A	G	11: 99,663,027 (GRCm39)	C218R	unknown	Het
Gria4	T	C	9: 4,537,726 (GRCm39)	Y194C	probably damaging	Het
Grin2d	T	C	7: 45,507,396 (GRCm39)	E435G	probably damaging	Het
Hectd1	T	C	12: 51,844,725 (GRCm39)	E506G	probably damaging	Het
Htt	G	A	5: 34,989,948 (GRCm39)	S1160N	possibly damaging	Het
Ift140	A	G	17: 25,267,417 (GRCm39)	E605G	probably damaging	Het
Il17re	T	C	6: 113,445,411 (GRCm39)	V374A	probably benign	Het
Ippk	A	G	13: 49,612,093 (GRCm39)	Q439R	possibly damaging	Het
Itgam	G	A	7: 127,700,899 (GRCm39)	V530M	probably damaging	Het
Kirrel3	A	G	9: 34,931,429 (GRCm39)	H47R	possibly damaging	Het
Klk1b24	A	T	7: 43,841,057 (GRCm39)	I162F	probably damaging	Het
Lama1	A	T	17: 68,059,434 (GRCm39)	T606S	probably benign	Het
Lama2	C	T	10: 27,343,199 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,313,945 (GRCm39)	I2262T	probably benign	Het
Mamdc4	A	T	2: 25,458,546 (GRCm39)	I317N	possibly damaging	Het
Mtmr3	G	T	11: 4,437,938 (GRCm39)	H839N	probably benign	Het
Ncr1	G	T	7: 4,344,253 (GRCm39)	V177F	probably benign	Het
Nop58	T	C	1: 59,743,242 (GRCm39)	S219P	probably damaging	Het
Nrg3	T	C	14: 38,734,043 (GRCm39)	Y281C	probably damaging	Het
Nsf	A	G	11: 103,819,608 (GRCm39)	S54P	probably damaging	Het
Or56b6	A	T	7: 104,925,153 (GRCm39)		noncoding transcript	Het
Or6k8-ps1	T	A	1: 173,979,102 (GRCm39)	S7T	probably benign	Het
Plxnc1	T	C	10: 94,685,801 (GRCm39)	K730R	probably damaging	Het
Polr2g	A	T	19: 8,771,740 (GRCm39)		probably benign	Het
Rps13	A	G	7: 115,932,925 (GRCm39)		probably benign	Het
Scgb2b7	A	G	7: 31,403,409 (GRCm39)	I99T	probably benign	Het
Slc22a27	G	T	19: 7,887,108 (GRCm39)	H260Q	possibly damaging	Het
Spata18	G	T	5: 73,814,944 (GRCm39)		probably null	Het
Tns2	A	G	15: 102,019,814 (GRCm39)	E560G	possibly damaging	Het
Trbv16	T	C	6: 41,128,715 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,851,520 (GRCm39)	I1829N	probably damaging	Het
Vcl	C	T	14: 21,053,311 (GRCm39)	T442I	probably damaging	Het
Vmn2r102	T	A	17: 19,880,731 (GRCm39)	I24N	probably benign	Het
Vmn2r114	T	C	17: 23,529,451 (GRCm39)	D217G	probably damaging	Het
Vmn2r58	A	G	7: 41,486,394 (GRCm39)	Y834H	probably damaging	Het
Zdhhc8	G	T	16: 18,045,636 (GRCm39)		probably benign	Het

Other mutations in Atxn7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5825:Atxn7l2	UTSW	3	108,112,127 (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

Posted On

2014-05-07