Mutagenetix > Incidental Mutation

Incidental Mutation 'R9045:Atxn7l3'

688005

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l3

Ensembl Gene

ENSMUSG00000059995

Gene Name

ataxin 7-like 3

Synonyms

E030022H21Rik

MMRRC Submission

068872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9045 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

102180126-102187457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102183272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 221 (T221S)

Ref Sequence

ENSEMBL: ENSMUSP00000072967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036376] [ENSMUST00000073234] [ENSMUST00000107132] [ENSMUST00000107134] [ENSMUST00000137387] [ENSMUST00000156326]

AlphaFold

A2AWT3

Predicted Effect

probably benign
Transcript: ENSMUST00000036376

SMART Domains

Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
UBQ	173	242	1.75e-9	SMART
transmembrane domain	264	286	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073234
AA Change: T221S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
AA Change: T221S

Domain	Start	End	E-Value	Type
Pfam:Sgf11	80	112	1.3e-21	PFAM
low complexity region	135	143	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
Pfam:SCA7	202	239	8.8e-10	PFAM
low complexity region	275	288	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100387

SMART Domains

Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
UBQ	212	281	1.75e-9	SMART
transmembrane domain	303	325	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107132
AA Change: T228S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
AA Change: T228S

Domain	Start	End	E-Value	Type
Pfam:Sgf11	80	112	1.1e-21	PFAM
low complexity region	135	143	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
Pfam:SCA7	209	246	7.8e-11	PFAM
low complexity region	282	295	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC
low complexity region	335	345	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107134
AA Change: T221S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
AA Change: T221S

Domain	Start	End	E-Value	Type
Pfam:Sgf11	80	112	1.3e-21	PFAM
low complexity region	135	143	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
Pfam:SCA7	202	239	8.8e-10	PFAM
low complexity region	275	288	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137387
AA Change: T224S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995
AA Change: T224S

Domain	Start	End	E-Value	Type
Pfam:Sgf11	76	108	2.6e-21	PFAM
low complexity region	131	139	N/A	INTRINSIC
low complexity region	146	155	N/A	INTRINSIC
Pfam:SCA7	205	242	1.9e-9	PFAM
low complexity region	278	291	N/A	INTRINSIC
low complexity region	305	319	N/A	INTRINSIC
low complexity region	331	341	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995
AA Change: T131S

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	27	35	N/A	INTRINSIC
low complexity region	42	51	N/A	INTRINSIC
Pfam:SCA7	113	150	6.7e-11	PFAM
low complexity region	186	199	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
low complexity region	239	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156326

SMART Domains

Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
UBQ	173	242	1.75e-9	SMART
transmembrane domain	264	286	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

100% (66/66)

MGI Phenotype

PHENOTYPE: Mouse embryonic stem cells homozygous for a knock-out allele exhibit strikingly increased H2B monoubiquitination (H2Bub) levels and fail to show loss of global H2Bub following inhibition of transcriptional elongation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	C	8: 33,919,362 (GRCm39)	M61L		Het
9130401M01Rik	G	T	15: 57,892,130 (GRCm39)	A223E	possibly damaging	Het
Adgra1	T	G	7: 139,432,566 (GRCm39)	L135V	possibly damaging	Het
Aida	A	G	1: 183,094,940 (GRCm39)	E127G	possibly damaging	Het
Ankrd31	T	A	13: 96,968,034 (GRCm39)	L557*	probably null	Het
Bbs7	A	G	3: 36,666,184 (GRCm39)	S27P	probably benign	Het
Cela3b	A	T	4: 137,152,110 (GRCm39)	C116S	possibly damaging	Het
Clstn3	A	C	6: 124,408,921 (GRCm39)	M909R	probably damaging	Het
Cnot2	T	C	10: 116,322,160 (GRCm39)	E523G	probably benign	Het
Col12a1	T	A	9: 79,582,034 (GRCm39)	T1406S	probably benign	Het
Cr2	A	T	1: 194,837,680 (GRCm39)	N763K	possibly damaging	Het
Csmd1	A	G	8: 16,284,088 (GRCm39)	F557L	probably damaging	Het
Cyth1	T	C	11: 118,073,090 (GRCm39)	H270R	possibly damaging	Het
Epg5	T	C	18: 77,992,014 (GRCm39)	L237P	probably damaging	Het
Fbxo36	G	A	1: 84,874,300 (GRCm39)	D99N	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,856 (GRCm39)	C1607S	probably damaging	Het
Flot2	A	G	11: 77,950,023 (GRCm39)	I417M	probably benign	Het
Fryl	A	G	5: 73,182,118 (GRCm39)	L143P		Het
Gckr	A	G	5: 31,457,353 (GRCm39)	N122S	possibly damaging	Het
Gm3250	T	A	10: 77,617,932 (GRCm39)	T149S	unknown	Het
Golga3	G	A	5: 110,340,963 (GRCm39)	M552I	probably benign	Het
Grip1	T	A	10: 119,871,356 (GRCm39)	D694E	probably damaging	Het
Heatr1	T	C	13: 12,428,233 (GRCm39)	V790A	probably benign	Het
Ighv1-54	G	A	12: 115,157,500 (GRCm39)	T49I	probably benign	Het
Iglv1	A	G	16: 18,904,053 (GRCm39)	V22A	probably benign	Het
Lama1	A	T	17: 68,060,838 (GRCm39)	Y722F		Het
Laptm5	A	T	4: 130,655,955 (GRCm39)	E91V		Het
Lrig1	A	G	6: 94,585,688 (GRCm39)		probably null	Het
Mcph1	T	G	8: 18,682,443 (GRCm39)	S527A	probably benign	Het
Med13l	G	T	5: 118,880,816 (GRCm39)	V1303L	probably benign	Het
Mindy4	A	G	6: 55,295,283 (GRCm39)	D741G	probably benign	Het
Myo15b	T	A	11: 115,783,178 (GRCm39)	*3034R	probably null	Het
Nfkbie	A	T	17: 45,872,959 (GRCm39)	K354I	probably damaging	Het
Npat	A	G	9: 53,474,776 (GRCm39)	N856S	possibly damaging	Het
Nr2c2ap	A	G	8: 70,585,808 (GRCm39)	D122G	probably damaging	Het
Nr4a3	C	A	4: 48,067,694 (GRCm39)	T430K	possibly damaging	Het
Or12e10	C	A	2: 87,640,416 (GRCm39)	S84Y	probably damaging	Het
Or52ab4	T	G	7: 102,987,903 (GRCm39)	I214R	probably damaging	Het
Or5h25	A	G	16: 58,930,365 (GRCm39)	S203P	probably benign	Het
Otud7b	A	G	3: 96,059,895 (GRCm39)	K397E	probably benign	Het
Pafah1b3	G	T	7: 24,996,898 (GRCm39)		probably benign	Het
Pcdhgc3	G	T	18: 37,940,669 (GRCm39)	V357L	probably damaging	Het
Pde2a	A	G	7: 101,152,498 (GRCm39)	T354A	unknown	Het
Pira12	A	G	7: 3,897,547 (GRCm39)	I516T	possibly damaging	Het
Rbfa	T	C	18: 80,236,026 (GRCm39)	H241R	probably damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rps6ka1	C	T	4: 133,600,150 (GRCm39)		probably benign	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sbno1	A	G	5: 124,543,720 (GRCm39)	V273A	probably benign	Het
Scg3	T	C	9: 75,570,522 (GRCm39)	N344S	probably damaging	Het
Serpinb1c	C	G	13: 33,066,027 (GRCm39)	G306A	probably benign	Het
Sh2d6	C	T	6: 72,492,604 (GRCm39)	G206D	probably benign	Het
Slamf9	G	A	1: 172,304,938 (GRCm39)	S184N	probably damaging	Het
Slc50a1	T	C	3: 89,176,042 (GRCm39)	T168A	probably damaging	Het
Tas2r124	G	C	6: 132,732,034 (GRCm39)	W114C	probably damaging	Het
Tgm4	C	T	9: 122,877,616 (GRCm39)	T206I	possibly damaging	Het
Tmem52	A	G	4: 155,553,899 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,880,841 (GRCm39)	K61E	probably benign	Het
Vmn2r58	T	C	7: 41,487,087 (GRCm39)	I603V	probably benign	Het
Vstm2l	G	T	2: 157,756,795 (GRCm39)	G22V	unknown	Het
Vwa5b1	T	A	4: 138,315,990 (GRCm39)	Y584F	probably damaging	Het
Wdfy3	A	T	5: 101,995,040 (GRCm39)	V3233D	probably damaging	Het
Wdhd1	A	G	14: 47,511,409 (GRCm39)	V101A	probably benign	Het
Zfc3h1	C	A	10: 115,263,319 (GRCm39)	Q1761K	possibly damaging	Het
Zfp180	G	A	7: 23,804,315 (GRCm39)	V245I	probably benign	Het
Zfp846	A	T	9: 20,505,189 (GRCm39)	I350L	probably benign	Het

Other mutations in Atxn7l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Atxn7l3	APN	11	102,185,807 (GRCm39)	missense	probably benign	0.00
IGL01629:Atxn7l3	APN	11	102,183,320 (GRCm39)	unclassified	probably benign
R0333:Atxn7l3	UTSW	11	102,185,818 (GRCm39)	splice site	probably null
R0967:Atxn7l3	UTSW	11	102,183,261 (GRCm39)	unclassified	probably benign
R0970:Atxn7l3	UTSW	11	102,183,261 (GRCm39)	unclassified	probably benign
R1073:Atxn7l3	UTSW	11	102,183,261 (GRCm39)	unclassified	probably benign
R1388:Atxn7l3	UTSW	11	102,183,261 (GRCm39)	unclassified	probably benign
R1518:Atxn7l3	UTSW	11	102,185,340 (GRCm39)	missense	probably benign	0.04
R2119:Atxn7l3	UTSW	11	102,182,807 (GRCm39)	missense	possibly damaging	0.63
R3708:Atxn7l3	UTSW	11	102,182,705 (GRCm39)	unclassified	probably benign
R3856:Atxn7l3	UTSW	11	102,184,729 (GRCm39)	missense	probably damaging	1.00
R8700:Atxn7l3	UTSW	11	102,184,747 (GRCm39)	missense	possibly damaging	0.52
R8878:Atxn7l3	UTSW	11	102,183,545 (GRCm39)	missense	probably benign	0.10
R8913:Atxn7l3	UTSW	11	102,185,787 (GRCm39)	missense	probably damaging	0.99
R8973:Atxn7l3	UTSW	11	102,183,598 (GRCm39)	missense	probably benign	0.03
R9624:Atxn7l3	UTSW	11	102,182,852 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCAGACCCTGACAAGGCAG -3'
(R):5'- AGCAGGAGCCATAGTTTTCTG -3'

Sequencing Primer
(F):5'- CTTCAGGAGCTCAGGTGAAGC -3'
(R):5'- CAGGAGCCATAGTTTTCTGTGAAAG -3'

Posted On

2021-11-19