Mutagenetix > Incidental Mutation

Incidental Mutation 'R0333:Atxn7l3'

38346

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l3

Ensembl Gene

ENSMUSG00000059995

Gene Name

ataxin 7-like 3

Synonyms

E030022H21Rik

MMRRC Submission

038542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102180126-102187457 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 102185818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122610 (fasta)

Gene Model

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

AlphaFold

A2AWT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000073234
AA Change: M3K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
AA Change: M3K

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: ENSMUST00000107132
AA Change: M3K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
AA Change: M3K

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: M3K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
AA Change: M3K

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 null
Transcript: ENSMUST00000137387

SMART Domains

Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995

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

probably benign
Transcript: ENSMUST00000141516

SMART Domains

Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995

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

noncoding transcript
Transcript: ENSMUST00000145484

Meta Mutation Damage Score

0.2070

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (53/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	T	C	9: 106,118,480 (GRCm39)	N214S	probably benign	Het
Antxr1	A	G	6: 87,165,820 (GRCm39)		probably benign	Het
Cab39l	A	G	14: 59,737,060 (GRCm39)	E60G	probably damaging	Het
Cdc5l	G	T	17: 45,704,142 (GRCm39)		probably benign	Het
Cux2	T	C	5: 121,998,671 (GRCm39)	E1423G	probably benign	Het
Dbndd1	G	T	8: 124,233,512 (GRCm39)	Q165K	probably damaging	Het
Drd1	C	A	13: 54,208,082 (GRCm39)	C37F	probably damaging	Het
Elp3	G	A	14: 65,828,042 (GRCm39)	P11L	probably benign	Het
F830045P16Rik	A	G	2: 129,314,777 (GRCm39)	Y167H	probably damaging	Het
Gimap3	G	A	6: 48,742,664 (GRCm39)	Q89*	probably null	Het
H2ac25	C	A	11: 58,845,685 (GRCm39)	S41*	probably null	Het
Herc1	G	A	9: 66,371,981 (GRCm39)		probably null	Het
Ipo11	A	G	13: 107,007,271 (GRCm39)	V603A	probably benign	Het
Kifap3	G	A	1: 163,624,833 (GRCm39)	A130T	probably damaging	Het
Klhl23	A	G	2: 69,664,241 (GRCm39)	Y530C	probably damaging	Het
Map4k1	C	T	7: 28,699,186 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,600 (GRCm39)	L778M	probably damaging	Het
Mtdh	T	C	15: 34,118,247 (GRCm39)	S344P	possibly damaging	Het
Ncoa3	T	G	2: 165,896,211 (GRCm39)	N371K	probably damaging	Het
Ncor2	C	A	5: 125,111,408 (GRCm39)		probably benign	Het
Nrn1l	A	G	8: 106,621,052 (GRCm39)	E48G	probably benign	Het
Nudcd1	A	G	15: 44,264,683 (GRCm39)	I271T	probably benign	Het
Or1e17	A	T	11: 73,831,593 (GRCm39)	I174F	possibly damaging	Het
Or2t1	T	C	14: 14,328,498 (GRCm38)	L129P	probably damaging	Het
Pard3b	A	G	1: 62,269,371 (GRCm39)	N653S	probably benign	Het
Plekhg1	A	C	10: 3,914,419 (GRCm39)	K1380N	probably damaging	Het
Ppara	T	A	15: 85,675,161 (GRCm39)	I210N	probably damaging	Het
Ppp2r5b	A	G	19: 6,279,077 (GRCm39)		probably benign	Het
Prkn	T	C	17: 11,286,027 (GRCm39)	F6L	probably damaging	Het
Prr14l	A	G	5: 32,985,337 (GRCm39)	L1386P	probably damaging	Het
Ralgapa1	A	G	12: 55,829,685 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,134,240 (GRCm39)	L2563I	probably damaging	Het
Rps7	A	G	12: 28,681,200 (GRCm39)		probably benign	Het
Rslcan18	T	C	13: 67,246,686 (GRCm39)	K309E	probably damaging	Het
Sec14l5	C	T	16: 4,984,930 (GRCm39)	T92M	probably damaging	Het
Slc22a8	G	A	19: 8,585,514 (GRCm39)		probably benign	Het
Smad2	G	A	18: 76,395,692 (GRCm39)	A44T	probably damaging	Het
Smcr8	T	C	11: 60,671,048 (GRCm39)	V732A	possibly damaging	Het
Spata2l	A	G	8: 123,960,371 (GRCm39)	F306S	probably damaging	Het
Stab2	T	C	10: 86,677,491 (GRCm39)	D2552G	probably benign	Het
Tctn3	A	T	19: 40,595,711 (GRCm39)	L358H	possibly damaging	Het
Tk2	C	T	8: 104,975,146 (GRCm39)		probably benign	Het
Tm6sf2	C	T	8: 70,530,564 (GRCm39)	R215C	probably damaging	Het
Tmbim6	T	C	15: 99,304,555 (GRCm39)	I204T	probably damaging	Het
Tubgcp2	C	A	7: 139,579,260 (GRCm39)	W675C	probably damaging	Het
Usp48	T	A	4: 137,321,794 (GRCm39)	I62N	probably damaging	Het
Vmn2r74	T	C	7: 85,601,491 (GRCm39)	T716A	probably benign	Het
Vps13b	C	A	15: 35,879,949 (GRCm39)	T3008K	probably damaging	Het
Wnk1	G	A	6: 119,905,124 (GRCm39)		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
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
R9045:Atxn7l3	UTSW	11	102,183,272 (GRCm39)	missense	probably damaging	0.99
R9624:Atxn7l3	UTSW	11	102,182,852 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACACTTAACAGCCCGGTGTACTTC -3'
(R):5'- CACACTGATGCCAGGATTAAGCCC -3'

Sequencing Primer
(F):5'- CAGCATATATCTCCTGAGCGATGG -3'
(R):5'- AGGTGTCTTGGACTCACACCA -3'

Posted On

2013-05-23