Mutagenetix > Incidental Mutation

Incidental Mutation 'R9624:Atxn7l3'

725048

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l3

Ensembl Gene

ENSMUSG00000059995

Gene Name

ataxin 7-like 3

Synonyms

E030022H21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9624 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102180126-102187457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102182852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 256 (D256G)

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 benign
Transcript: ENSMUST00000073234
AA Change: D256G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
AA Change: D256G

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 benign
Transcript: ENSMUST00000107132
AA Change: D263G

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

SMART Domains

Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
AA Change: D263G

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 benign
Transcript: ENSMUST00000107134
AA Change: D256G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
AA Change: D256G

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: ENSMUST00000137387
AA Change: D259G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995
AA Change: D259G

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: D166G

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,509,070 (GRCm39)	N481I	probably damaging	Het
Ahnak	T	A	19: 8,989,846 (GRCm39)	L3710Q	unknown	Het
Anapc15-ps	T	C	10: 95,508,965 (GRCm39)	D105G	probably benign	Het
Ankfn1	T	C	11: 89,414,033 (GRCm39)	N114S	probably benign	Het
Ankrd27	A	T	7: 35,301,891 (GRCm39)	T137S	possibly damaging	Het
Atp1b3	A	G	9: 96,222,293 (GRCm39)	S165P	probably benign	Het
B430305J03Rik	C	A	3: 61,271,408 (GRCm39)	L112F	unknown	Het
Bub1	A	T	2: 127,646,766 (GRCm39)	I838K	probably damaging	Het
C3	T	A	17: 57,527,189 (GRCm39)	E753D	probably benign	Het
Cacnb4	T	C	2: 52,364,942 (GRCm39)	D107G	probably benign	Het
Cenpj	A	T	14: 56,802,387 (GRCm39)	H59Q	probably benign	Het
Cxxc1	A	T	18: 74,352,512 (GRCm39)	H364L	possibly damaging	Het
Dapk1	T	C	13: 60,895,937 (GRCm39)	I675T	probably benign	Het
Eln	A	G	5: 134,738,991 (GRCm39)	S663P	unknown	Het
Epha8	G	T	4: 136,659,065 (GRCm39)	P863Q	probably damaging	Het
Erich6	G	T	3: 58,536,766 (GRCm39)	T278N	possibly damaging	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fam83g	C	T	11: 61,575,328 (GRCm39)		probably benign	Het
Fanci	A	T	7: 79,085,117 (GRCm39)	I848L	probably benign	Het
Foxj3	T	A	4: 119,483,589 (GRCm39)	D620E	unknown	Het
Gm14443	T	A	2: 175,012,129 (GRCm39)	N106Y	possibly damaging	Het
Gm17654	T	C	14: 43,815,492 (GRCm39)	D105G		Het
Gps1	C	A	11: 120,677,434 (GRCm39)	A216D	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,110 (GRCm39)	K339R	probably benign	Het
Ikzf1	A	G	11: 11,719,219 (GRCm39)	T396A	probably damaging	Het
Lratd2	A	T	15: 60,694,993 (GRCm39)	I251N	probably damaging	Het
Lrrc9	A	G	12: 72,497,586 (GRCm39)	I135V	probably benign	Het
Mylk	C	A	16: 34,699,677 (GRCm39)	Q347K	probably benign	Het
Myo1e	A	G	9: 70,303,156 (GRCm39)	Y1059C	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10d1b	A	G	9: 39,613,822 (GRCm39)	F81S	probably benign	Het
Or10j3	A	T	1: 173,031,672 (GRCm39)	I250F	probably benign	Het
Or2y1	T	A	11: 49,385,834 (GRCm39)	I158N	possibly damaging	Het
Or6c33	T	C	10: 129,853,866 (GRCm39)	V212A	possibly damaging	Het
Or8g23	T	A	9: 38,971,453 (GRCm39)	N170Y	probably benign	Het
Or8g30	G	T	9: 39,230,848 (GRCm39)	Q21K	probably benign	Het
Piezo2	G	A	18: 63,197,767 (GRCm39)	P1590S	possibly damaging	Het
Prl7a2	T	A	13: 27,849,869 (GRCm39)	K68*	probably null	Het
Prss33	A	G	17: 24,054,656 (GRCm39)	V14A	probably benign	Het
Rad17	T	C	13: 100,773,503 (GRCm39)	N162S	probably damaging	Het
Sbf2	A	T	7: 109,963,857 (GRCm39)	V1042E	probably damaging	Het
Scn1a	A	T	2: 66,153,766 (GRCm39)	M689K	probably benign	Het
Senp7	A	T	16: 55,990,075 (GRCm39)	I608F	probably damaging	Het
Sh2b1	AGCTCAGCCACGGGGAC	AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc38a3	A	G	9: 107,532,510 (GRCm39)	V370A	probably damaging	Het
Sorbs2	A	G	8: 46,228,690 (GRCm39)	I307V	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spindoc	G	A	19: 7,352,197 (GRCm39)	T50M	probably benign	Het
Sppl2b	T	A	10: 80,699,373 (GRCm39)	F269Y	probably benign	Het
Stab1	C	T	14: 30,863,345 (GRCm39)	V2114M		Het
Tcerg1l	A	G	7: 137,995,923 (GRCm39)	V195A	possibly damaging	Het
Tent4a	A	T	13: 69,651,787 (GRCm39)	W545R	probably damaging	Het
Tmem128	G	T	5: 38,422,236 (GRCm39)	R105L	possibly damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Vmn1r194	T	A	13: 22,428,671 (GRCm39)	I96N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r78	G	A	7: 11,886,410 (GRCm39)	S7N	probably benign	Het
Wapl	T	A	14: 34,414,063 (GRCm39)	N308K	possibly damaging	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
R9045:Atxn7l3	UTSW	11	102,183,272 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGTACCTGCAGAGGAAAG -3'
(R):5'- ATCATTCTGTCCCCACCAGG -3'

Sequencing Primer
(F):5'- TACCTGCAGAGGAAAGAGGCAC -3'
(R):5'- ACCAGGTCACTACGCTGC -3'

Posted On

2022-09-12