Mutagenetix > Incidental Mutation

Incidental Mutation 'R3547:Atxn1l'

268262

Institutional Source

Beutler Lab

Gene Symbol

Atxn1l

Ensembl Gene

ENSMUSG00000069895

Gene Name

ataxin 1-like

Synonyms

Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895

MMRRC Submission

040666-MU

Accession Numbers

Essential gene?

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

Stock #

R3547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110453083-110464371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110458981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 427 (L427P)

Ref Sequence

ENSEMBL: ENSMUSP00000148324 (fasta)

Gene Model

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

AlphaFold

P0C7T6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093162
AA Change: L427P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: L427P

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

possibly damaging
Transcript: ENSMUST00000212605
AA Change: L427P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000212726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212894

Meta Mutation Damage Score

0.2054

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg5	A	G	3: 54,656,736 (GRCm39)	R316G	probably benign	Het
Anapc1	T	C	2: 128,484,602 (GRCm39)	N1121D	possibly damaging	Het
Antxr2	A	T	5: 98,125,516 (GRCm39)	I247N	probably benign	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl9	A	G	5: 77,158,326 (GRCm39)	D136G	probably benign	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Clec4a3	A	G	6: 122,941,239 (GRCm39)	E78G	probably damaging	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Col12a1	T	G	9: 79,540,698 (GRCm39)	K2429T	probably damaging	Het
Col20a1	G	T	2: 180,636,704 (GRCm39)	E228D	probably damaging	Het
Cx3cl1	A	C	8: 95,504,752 (GRCm39)	E56A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Gdi1	T	A	X: 73,351,414 (GRCm39)	F175L	possibly damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Gpr149	A	T	3: 62,502,549 (GRCm39)	C436S	probably benign	Het
Grid2	T	C	6: 64,297,005 (GRCm39)	V456A	probably damaging	Het
Gstcd	G	T	3: 132,790,599 (GRCm39)	T56K	possibly damaging	Het
Hydin	G	A	8: 111,308,699 (GRCm39)	G3995D	possibly damaging	Het
Igkv4-50	G	A	6: 69,677,765 (GRCm39)	T113I	probably benign	Het
Igkv5-43	A	G	6: 69,753,240 (GRCm39)		probably benign	Het
Igsf10	G	A	3: 59,237,962 (GRCm39)	H740Y	probably benign	Het
Igsf10	C	A	3: 59,243,935 (GRCm39)	R133L	probably damaging	Het
Lcmt1	A	G	7: 122,999,702 (GRCm39)	E94G	probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Ly6m	C	A	15: 74,753,463 (GRCm39)	A18S	probably null	Het
Map3k3	C	T	11: 106,033,379 (GRCm39)	Q211*	probably null	Het
Map4	T	A	9: 109,881,266 (GRCm39)	F43L	possibly damaging	Het
Mcf2	T	C	X: 59,180,806 (GRCm39)	K74R	probably damaging	Het
Mylk	G	A	16: 34,700,538 (GRCm39)	V460I	possibly damaging	Het
Nat1	A	G	8: 67,943,684 (GRCm39)	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Ncf1	T	A	5: 134,255,463 (GRCm39)	K143*	probably null	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or52b3	A	G	7: 102,203,677 (GRCm39)	Y62C	probably damaging	Het
Pi4k2a	C	T	19: 42,078,987 (GRCm39)	P16L	probably benign	Het
Pitx3	T	A	19: 46,124,548 (GRCm39)	Q273L	possibly damaging	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Prickle2	T	C	6: 92,388,118 (GRCm39)	Y428C	probably damaging	Het
Prkcq	A	G	2: 11,288,627 (GRCm39)	K527E	probably benign	Het
Prune2	T	A	19: 17,101,712 (GRCm39)	S2405R	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rnf167	T	C	11: 70,540,507 (GRCm39)	I129T	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfxn2	T	C	19: 46,578,635 (GRCm39)	S217P	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Slc22a17	A	G	14: 55,144,694 (GRCm39)	L573P	probably damaging	Het
Slc25a45	T	C	19: 5,934,574 (GRCm39)	Y181H	probably damaging	Het
Slc6a20a	A	G	9: 123,489,567 (GRCm39)	S159P	probably damaging	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,217,438 (GRCm39)	D397E	probably benign	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ube4b	T	C	4: 149,419,573 (GRCm39)	D1045G	probably damaging	Het
Ugt8a	A	T	3: 125,661,031 (GRCm39)	L487*	probably null	Het
Uprt	T	A	X: 103,526,934 (GRCm39)	L123H	probably damaging	Het
Usp9x	T	C	X: 12,994,629 (GRCm39)	L940P	probably benign	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Uty	A	C	Y: 1,158,512 (GRCm39)	D463E	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het
Vps13d	T	G	4: 144,801,545 (GRCm39)	T3558P	probably damaging	Het
Zfp319	A	G	8: 96,055,445 (GRCm39)	S253P	probably damaging	Het
Zfp831	A	G	2: 174,499,476 (GRCm39)	S1265G	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
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
R9545:Atxn1l	UTSW	8	110,458,688 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAATCCTGGGTCTGGAGGTCC -3'
(R):5'- ATGAGCCCAGCCCTCTTAAC -3'

Sequencing Primer
(F):5'- CTGGGTCTGGAGGTCCTCTAC -3'
(R):5'- TCCCATCATAACCTTGACCATCAGG -3'

Posted On

2015-02-19