Mutagenetix > Incidental Mutation

Incidental Mutation 'R8695:Atxn1l'

668625

Institutional Source

Beutler Lab

Gene Symbol

Atxn1l

Ensembl Gene

ENSMUSG00000069895

Gene Name

ataxin 1-like

Synonyms

Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895

MMRRC Submission

068549-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R8695 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110453083-110464371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110458462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 600 (G600D)

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: G600D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: G600D

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: G600D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000212726

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524J17Rik	A	G	8: 86,138,870 (GRCm39)	I73T	probably benign	Het
4930556J24Rik	A	G	11: 3,926,192 (GRCm39)		probably benign	Het
Ace	A	G	11: 105,875,971 (GRCm39)	T1010A	probably benign	Het
Adam20	A	T	8: 41,248,865 (GRCm39)	Y325F	probably benign	Het
Aff4	A	C	11: 53,259,509 (GRCm39)	N7H	probably damaging	Het
Apob	A	T	12: 8,057,830 (GRCm39)	D2104V	probably damaging	Het
Asap3	T	C	4: 135,965,722 (GRCm39)	S411P	probably benign	Het
Brd3	A	T	2: 27,352,558 (GRCm39)	M124K	probably benign	Het
Bsx	A	G	9: 40,785,484 (GRCm39)	N4S	probably damaging	Het
Ccdc125	T	C	13: 100,814,552 (GRCm39)	I44T	probably benign	Het
Ccdc141	G	A	2: 76,879,963 (GRCm39)	T620I	probably benign	Het
Ccdc178	T	A	18: 22,157,809 (GRCm39)	I550F	probably benign	Het
Ccdc77	G	T	6: 120,318,962 (GRCm39)	T163N	probably damaging	Het
Cd55	A	T	1: 130,380,273 (GRCm39)	I235K	probably benign	Het
Cdc123	A	T	2: 5,826,174 (GRCm39)	M118K	possibly damaging	Het
Cep192	A	T	18: 67,951,958 (GRCm39)	K378*	probably null	Het
Chd7	C	T	4: 8,850,812 (GRCm39)	R1733C	probably damaging	Het
Crybg2	A	T	4: 133,792,766 (GRCm39)	S134C	possibly damaging	Het
Cyp2d26	A	G	15: 82,676,907 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,299 (GRCm39)		probably null	Het
Dyrk2	A	T	10: 118,696,922 (GRCm39)	V112E	probably benign	Het
Eppk1	A	G	15: 75,994,598 (GRCm39)	L761P	probably benign	Het
Evpl	T	C	11: 116,114,489 (GRCm39)	K1067R	probably benign	Het
Fancm	C	A	12: 65,171,947 (GRCm39)	D1862E	probably damaging	Het
Fhl2	A	G	1: 43,167,571 (GRCm39)	V174A	probably damaging	Het
Gemin4	A	T	11: 76,102,656 (GRCm39)	C702S	probably damaging	Het
Ggnbp2	T	A	11: 84,760,767 (GRCm39)	D10V	possibly damaging	Het
Glul	T	C	1: 153,778,769 (GRCm39)	V26A	probably benign	Het
Gml2	A	G	15: 74,696,089 (GRCm39)	N161S	probably benign	Het
Gnao1	C	A	8: 94,682,795 (GRCm39)	T327K	probably damaging	Het
Gpr179	A	G	11: 97,227,124 (GRCm39)	V1677A	possibly damaging	Het
Greb1l	A	T	18: 10,544,450 (GRCm39)	H1348L	probably benign	Het
Grm8	T	C	6: 28,126,030 (GRCm39)	H32R	probably benign	Het
Hk2	T	A	6: 82,716,627 (GRCm39)	M302L	probably benign	Het
Hnrnpm	C	A	17: 33,877,884 (GRCm39)	M333I	probably benign	Het
Hsd3b1	A	G	3: 98,760,223 (GRCm39)	I256T	probably damaging	Het
Irx5	G	A	8: 93,087,327 (GRCm39)	G420R	probably damaging	Het
Krt87	A	G	15: 101,331,901 (GRCm39)	V279A	probably benign	Het
Lamb2	G	A	9: 108,363,365 (GRCm39)	S848N	probably benign	Het
Lypd10	A	T	7: 24,413,203 (GRCm39)	H174L	probably benign	Het
Mc1r	A	T	8: 124,135,116 (GRCm39)	T290S	probably benign	Het
Or10d4	A	T	9: 39,580,376 (GRCm39)	T8S	probably benign	Het
Or52n2c	A	T	7: 104,574,146 (GRCm39)	V275D	probably benign	Het
Or52z1	A	T	7: 103,436,729 (GRCm39)	C252S	possibly damaging	Het
Or6c202	T	A	10: 128,996,233 (GRCm39)	T207S	probably damaging	Het
Pex6	T	C	17: 47,022,975 (GRCm39)	S184P	probably damaging	Het
Pglyrp3	A	T	3: 91,933,762 (GRCm39)	S136C	probably null	Het
Pik3r1	A	G	13: 101,894,062 (GRCm39)	S36P	probably benign	Het
Pomt2	G	T	12: 87,156,790 (GRCm39)	T782K	probably benign	Het
Ppfibp2	A	G	7: 107,285,063 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,765,019 (GRCm39)	H587R	probably damaging	Het
Prp2	A	G	6: 132,576,932 (GRCm39)	Q73R	unknown	Het
Psmb4	T	C	3: 94,793,435 (GRCm39)	N149D	probably benign	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rasal3	A	G	17: 32,611,736 (GRCm39)	F797S	possibly damaging	Het
Rsrp1	T	A	4: 134,652,610 (GRCm39)	M188K	probably damaging	Het
Senp8	A	G	9: 59,644,499 (GRCm39)	I219T	probably damaging	Het
Serpinb10	A	T	1: 107,468,630 (GRCm39)	N91I	probably damaging	Het
Skint4	C	T	4: 111,975,264 (GRCm39)	R75C	probably damaging	Het
Slc25a48	C	A	13: 56,612,825 (GRCm39)	A241E	probably damaging	Het
Slc39a6	C	A	18: 24,736,811 (GRCm39)		probably benign	Het
Smarcc1	G	A	9: 110,002,972 (GRCm39)	R354H	probably damaging	Het
Spata21	G	C	4: 140,838,755 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,796,724 (GRCm39)	E1774G	possibly damaging	Het
Tep1	A	T	14: 51,082,894 (GRCm39)	F1038Y	possibly damaging	Het
Thbs2	T	A	17: 14,899,963 (GRCm39)	D638V	probably benign	Het
Tmem161a	G	T	8: 70,627,047 (GRCm39)	C33F	probably damaging	Het
Trim47	T	C	11: 116,000,926 (GRCm39)	S41G	probably benign	Het
Trim56	T	A	5: 137,143,429 (GRCm39)	H29L	probably benign	Het
Ugt2b35	T	A	5: 87,156,064 (GRCm39)	H385Q	probably damaging	Het
Ugt2b37	T	A	5: 87,390,243 (GRCm39)	H401L	probably benign	Het
Usp44	A	C	10: 93,682,365 (GRCm39)	T272P	probably damaging	Het
Usp46	C	T	5: 74,189,897 (GRCm39)	E156K	probably benign	Het
Vmn1r232	T	C	17: 21,134,109 (GRCm39)	K164E	probably benign	Het
Zan	T	A	5: 137,385,217 (GRCm39)	N5072I	unknown	Het
Zfp318	T	C	17: 46,723,576 (GRCm39)	S1860P	probably benign	Het
Zfp616	C	T	11: 73,975,710 (GRCm39)	R660W	probably benign	Het
Zfp870	C	T	17: 33,102,679 (GRCm39)	V217I	possibly 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
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'- TGCATGCTGAATCTTTGGAAG -3'
(R):5'- TCGTGGTTGGTGAACAGCAG -3'

Sequencing Primer
(F):5'- CATGCTGAATCTTTGGAAGCTTGG -3'
(R):5'- AAGTGAGCATTGAGGTGCCCC -3'

Posted On

2021-04-30