Mutagenetix > Incidental Mutation

Incidental Mutation 'R9545:Atxn1l'

720059

Institutional Source

Beutler Lab

Gene Symbol

Atxn1l

Ensembl Gene

ENSMUSG00000069895

Gene Name

ataxin 1-like

Synonyms

Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895

Accession Numbers

Essential gene?

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

Stock #

R9545 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

110453083-110464371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110458688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 525 (V525M)

Ref Sequence

ENSEMBL: ENSMUSP00000148324 (fasta)

Gene Model

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

AlphaFold

P0C7T6

Predicted Effect

probably damaging
Transcript: ENSMUST00000093162
AA Change: V525M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: V525M

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 damaging
Transcript: ENSMUST00000212605
AA Change: V525M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000212726

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,416,538 (GRCm39)	L4100Q	probably damaging	Het
Acss2	C	A	2: 155,403,716 (GRCm39)	P652T	probably damaging	Het
Agl	A	T	3: 116,582,338 (GRCm39)	I228N	possibly damaging	Het
Ap5m1	C	G	14: 49,311,271 (GRCm39)	Q114E	possibly damaging	Het
Apob	C	T	12: 8,033,890 (GRCm39)	T201I	possibly damaging	Het
As3mt	G	A	19: 46,696,233 (GRCm39)	V14I	probably damaging	Het
Atp1a4	T	C	1: 172,078,464 (GRCm39)	N258S	probably benign	Het
B4galnt4	T	C	7: 140,644,804 (GRCm39)	V208A	probably benign	Het
Bet1	A	T	6: 4,077,973 (GRCm39)	S89T	probably damaging	Het
Cdhr1	T	G	14: 36,817,016 (GRCm39)	N115T	possibly damaging	Het
Cstf1	C	T	2: 172,212,885 (GRCm39)		probably benign	Het
Dcdc2c	G	T	12: 28,602,295 (GRCm39)	T3K	possibly damaging	Het
Deup1	C	T	9: 15,519,120 (GRCm39)	E129K	possibly damaging	Het
Dgkg	T	C	16: 22,385,168 (GRCm39)	E446G	possibly damaging	Het
Dolk	A	G	2: 30,176,016 (GRCm39)	S10P	probably benign	Het
Gm1110	T	C	9: 26,800,977 (GRCm39)	T406A	probably benign	Het
Gm8439	C	T	4: 120,445,957 (GRCm39)		probably benign	Het
Gna12	A	G	5: 140,746,575 (GRCm39)	I290T	probably damaging	Het
Gtf2h1	T	C	7: 46,458,112 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Kcnc3	T	C	7: 44,245,357 (GRCm39)	L549P	probably damaging	Het
Klhl26	T	C	8: 70,904,164 (GRCm39)	D582G	probably damaging	Het
Lhfpl5	C	A	17: 28,799,079 (GRCm39)	A196D	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Lrp6	A	G	6: 134,483,329 (GRCm39)	Y459H	probably damaging	Het
Lzts1	C	A	8: 69,591,286 (GRCm39)	K287N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmp23	T	A	4: 155,735,980 (GRCm39)	Q224L	probably benign	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Ms4a2	A	G	19: 11,596,237 (GRCm39)	F164S	probably benign	Het
Nudt15	A	T	14: 73,760,918 (GRCm39)	C58S	probably damaging	Het
Or2w25	A	G	11: 59,504,275 (GRCm39)	T162A	probably benign	Het
Or8h6	T	C	2: 86,703,615 (GRCm39)	I151V	probably benign	Het
Or9i1	A	G	19: 13,839,217 (GRCm39)	H20R	possibly damaging	Het
Panx3	A	G	9: 37,575,437 (GRCm39)	F142L	probably damaging	Het
Pik3r6	T	C	11: 68,422,365 (GRCm39)	Y255H	probably damaging	Het
Pnpt1	T	C	11: 29,106,840 (GRCm39)	V637A	probably benign	Het
Ppfibp2	T	C	7: 107,337,504 (GRCm39)	L602P	probably damaging	Het
Ppp2r3d	T	C	9: 101,089,214 (GRCm39)	N370D	probably benign	Het
Ppp2r5d	A	T	17: 46,995,687 (GRCm39)	I454N	probably damaging	Het
Pramel17	C	A	4: 101,693,097 (GRCm39)	C301F	probably damaging	Het
Radil	A	G	5: 142,492,392 (GRCm39)	V412A	probably benign	Het
Reep3	TTGACAGATTTCATG	TTG	10: 66,850,703 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic3	T	A	13: 76,259,832 (GRCm39)	V44D	probably damaging	Het
Spink5	G	A	18: 44,136,262 (GRCm39)	V558I	possibly damaging	Het
Stxbp5l	T	C	16: 37,028,625 (GRCm39)		probably null	Het
Svs5	T	A	2: 164,079,313 (GRCm39)	Q198L	possibly damaging	Het
Thap2	A	T	10: 115,208,834 (GRCm39)	N95K	probably benign	Het
Tie1	A	G	4: 118,336,112 (GRCm39)	V718A	probably benign	Het
Trpm3	G	A	19: 22,878,458 (GRCm39)	E632K	probably benign	Het
Ube4a	A	T	9: 44,843,638 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,618,511 (GRCm39)	I1163T	probably benign	Het
Vav2	C	T	2: 27,173,351 (GRCm39)	R491Q	probably damaging	Het
Wapl	T	A	14: 34,399,050 (GRCm39)	F40I	probably damaging	Het
Wdfy3	A	C	5: 102,100,957 (GRCm39)	I220R		Het
Xrra1	T	A	7: 99,535,334 (GRCm39)	V213D	possibly damaging	Het
Zwilch	A	T	9: 64,051,415 (GRCm39)	V550E	probably damaging	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
R8144:Atxn1l	UTSW	8	110,459,233 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- GCTCTGTAAACTGATAGAGATGCAG -3'
(R):5'- TGGTGGCATCAAGTCTGGAC -3'

Sequencing Primer
(F):5'- TGCAGACATCTCCCACCTGTAG -3'
(R):5'- ATCAAGTCTGGACCTGCAGG -3'

Posted On

2022-07-18