Mutagenetix > Incidental Mutation

Incidental Mutation 'R8144:Atxn1l'

632695

Institutional Source

Beutler Lab

Gene Symbol

Atxn1l

Ensembl Gene

ENSMUSG00000069895

Gene Name

ataxin 1-like

Synonyms

Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895

MMRRC Submission

067572-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R8144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110453083-110464371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110459233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 343 (A343V)

Ref Sequence

ENSEMBL: ENSMUSP00000148324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093162] [ENSMUST00000212605] [ENSMUST00000212726]

AlphaFold

P0C7T6

Predicted Effect

probably benign
Transcript: ENSMUST00000093162
AA Change: A343V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: A343V

Domain	Start	End	E-Value	Type
low complexity region	155	163	N/A	INTRINSIC
low complexity region	182	197	N/A	INTRINSIC
Pfam:AXH	467	580	3.1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212605
AA Change: A343V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000212726

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 98.0%
20x: 90.8%

Validation Efficiency

96% (50/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality with hydroencephaly, kyphosis, lethargy and cachexia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,166,388 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,546,962 (GRCm39)	D389G	possibly damaging	Het
Acy1	A	T	9: 106,313,319 (GRCm39)		probably null	Het
Adcy2	G	A	13: 68,882,754 (GRCm39)	Q328*	probably null	Het
Arhgef40	T	A	14: 52,235,632 (GRCm39)	V1171E	probably damaging	Het
Arrb1	G	A	7: 99,247,659 (GRCm39)		probably null	Het
C3	A	T	17: 57,533,276 (GRCm39)	V109E	probably damaging	Het
Clptm1	A	T	7: 19,367,827 (GRCm39)	V595E	possibly damaging	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Dhrs3	T	C	4: 144,646,474 (GRCm39)	S175P	probably damaging	Het
Eif2b1	A	T	5: 124,711,208 (GRCm39)	M187K	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Evc2	T	C	5: 37,537,911 (GRCm39)	L533P	probably damaging	Het
Fam221b	T	G	4: 43,665,465 (GRCm39)	Q331P	probably damaging	Het
Fam221b	G	T	4: 43,665,466 (GRCm39)	Q331K	probably benign	Het
Golga3	T	C	5: 110,333,745 (GRCm39)	V127A	probably damaging	Het
Itsn1	C	T	16: 91,708,893 (GRCm39)	P1719L	unknown	Het
Lars1	T	G	18: 42,351,591 (GRCm39)	H871P	probably damaging	Het
Mamdc4	A	T	2: 25,457,019 (GRCm39)	V590E	probably damaging	Het
Mdga2	A	G	12: 66,702,037 (GRCm39)	I457T	probably damaging	Het
Morc2a	T	C	11: 3,634,039 (GRCm39)	V717A	probably benign	Het
Or1p1c	C	A	11: 74,160,384 (GRCm39)	H56Q	probably damaging	Het
Or8d2b	A	T	9: 38,788,662 (GRCm39)	L63F	probably damaging	Het
Pank4	A	T	4: 155,054,537 (GRCm39)	Q170L	probably benign	Het
Pde4dip	G	T	3: 97,622,742 (GRCm39)	A1489D	probably damaging	Het
Pde8b	A	T	13: 95,359,278 (GRCm39)	I15N	probably damaging	Het
Pex16	A	C	2: 92,205,985 (GRCm39)	E26A	probably damaging	Het
Poglut2	A	G	1: 44,149,966 (GRCm39)	Y408H	probably damaging	Het
Polq	C	T	16: 36,849,846 (GRCm39)	P367S	probably benign	Het
Polr1a	T	A	6: 71,927,600 (GRCm39)	V817E	probably benign	Het
Pthlh	T	C	6: 147,158,663 (GRCm39)	D99G	probably damaging	Het
Rasgrp4	A	T	7: 28,848,542 (GRCm39)	S556C	probably damaging	Het
Rhobtb1	G	T	10: 69,125,388 (GRCm39)	V653L	possibly damaging	Het
Rin2	G	A	2: 145,664,225 (GRCm39)	R33Q	probably benign	Het
Rmc1	A	T	18: 12,318,704 (GRCm39)		probably null	Het
Sh3rf2	C	T	18: 42,274,124 (GRCm39)	T430I	probably benign	Het
Slc14a2	A	G	18: 78,227,759 (GRCm39)		probably null	Het
Slc39a8	C	T	3: 135,590,404 (GRCm39)	Q366*	probably null	Het
Spata31h1	A	T	10: 82,130,433 (GRCm39)	L859*	probably null	Het
Tagln3	G	T	16: 45,544,554 (GRCm39)	A39D	probably benign	Het
Tfdp1	T	A	8: 13,423,015 (GRCm39)	C307S	probably benign	Het
Tlr11	T	C	14: 50,599,945 (GRCm39)	S644P	probably damaging	Het
Tnpo3	T	C	6: 29,558,761 (GRCm39)	D723G	probably benign	Het
Xpo5	A	G	17: 46,519,145 (GRCm39)	N195D	probably benign	Het
Zfp11	T	C	5: 129,733,694 (GRCm39)	Y589C	possibly damaging	Het
Zfp712	T	C	13: 67,189,172 (GRCm39)	T452A	probably benign	Het

Other mutations in Atxn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Atxn1l	APN	8	110,459,312 (GRCm39)	missense	probably benign
IGL03163:Atxn1l	APN	8	110,459,017 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Atxn1l	UTSW	8	110,458,579 (GRCm39)	missense	probably damaging	1.00
R0432:Atxn1l	UTSW	8	110,458,325 (GRCm39)	missense	probably damaging	1.00
R0452:Atxn1l	UTSW	8	110,459,027 (GRCm39)	missense	possibly damaging	0.80
R0684:Atxn1l	UTSW	8	110,459,016 (GRCm39)	missense	probably damaging	1.00
R1241:Atxn1l	UTSW	8	110,459,612 (GRCm39)	missense	probably benign	0.03
R1488:Atxn1l	UTSW	8	110,460,049 (GRCm39)	missense	probably benign	0.37
R1531:Atxn1l	UTSW	8	110,458,691 (GRCm39)	missense	probably damaging	1.00
R2115:Atxn1l	UTSW	8	110,459,240 (GRCm39)	missense	probably benign
R2484:Atxn1l	UTSW	8	110,458,883 (GRCm39)	missense	probably damaging	0.97
R3547:Atxn1l	UTSW	8	110,458,981 (GRCm39)	missense	possibly damaging	0.95
R4612:Atxn1l	UTSW	8	110,458,736 (GRCm39)	missense	possibly damaging	0.81
R5499:Atxn1l	UTSW	8	110,458,264 (GRCm39)	missense	probably damaging	1.00
R6946:Atxn1l	UTSW	8	110,458,648 (GRCm39)	missense	probably damaging	1.00
R7101:Atxn1l	UTSW	8	110,459,132 (GRCm39)	missense	probably benign
R7718:Atxn1l	UTSW	8	110,459,866 (GRCm39)	missense	probably damaging	1.00
R8695:Atxn1l	UTSW	8	110,458,462 (GRCm39)	missense	probably damaging	0.97
R8719:Atxn1l	UTSW	8	110,459,861 (GRCm39)	missense	possibly damaging	0.57
R8737:Atxn1l	UTSW	8	110,460,230 (GRCm39)	missense	probably damaging	1.00
R8987:Atxn1l	UTSW	8	110,459,117 (GRCm39)	missense	probably benign
R9519:Atxn1l	UTSW	8	110,458,688 (GRCm39)	missense	probably damaging	1.00
R9545:Atxn1l	UTSW	8	110,458,688 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACAACCATTGCTTTGG -3'
(R):5'- AAGTGAAGCCCTTGACTCCG -3'

Sequencing Primer
(F):5'- GCTACAACCATTGCTTTGGGTAAAGG -3'
(R):5'- TGACTCCGCCAGCAGCAAG -3'

Posted On

2020-06-30