Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Atxn7l1'

569066

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l1

Ensembl Gene

ENSMUSG00000020564

Gene Name

ataxin 7-like 1

Synonyms

2810423G08Rik, Atxn7l4

MMRRC Submission

045421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33197692-33423184 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 33198502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077456] [ENSMUST00000110824] [ENSMUST00000125192] [ENSMUST00000136644] [ENSMUST00000146040]

AlphaFold

Q9CZ05

Predicted Effect

probably benign
Transcript: ENSMUST00000077456

Predicted Effect

probably null
Transcript: ENSMUST00000110824

Predicted Effect

probably null
Transcript: ENSMUST00000125192

SMART Domains

Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564

Domain	Start	End	E-Value	Type
low complexity region	95	114	N/A	INTRINSIC
low complexity region	191	206	N/A	INTRINSIC
Pfam:SCA7	246	314	2e-28	PFAM
low complexity region	370	384	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
low complexity region	567	597	N/A	INTRINSIC
low complexity region	615	634	N/A	INTRINSIC
low complexity region	792	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136644

Predicted Effect

probably null
Transcript: ENSMUST00000146040

SMART Domains

Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564

Domain	Start	End	E-Value	Type
low complexity region	95	114	N/A	INTRINSIC
low complexity region	191	206	N/A	INTRINSIC
Pfam:SCA7	246	314	2.3e-28	PFAM
low complexity region	370	384	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	578	590	N/A	INTRINSIC
low complexity region	669	699	N/A	INTRINSIC
low complexity region	717	736	N/A	INTRINSIC
low complexity region	894	912	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Inha	T	C	1: 75,486,760 (GRCm39)	Y352H	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ae2	T	C	7: 84,506,507 (GRCm39)	I312T	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Phldb2	T	A	16: 45,578,572 (GRCm39)		probably null	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Rdh19	T	C	10: 127,692,896 (GRCm39)	S188P	probably damaging	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Taf15	C	T	11: 83,375,658 (GRCm39)	T41M	possibly damaging	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	probably benign	Het

Other mutations in Atxn7l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02130:Atxn7l1	APN	12	33,392,141 (GRCm39)	missense	probably damaging	1.00
IGL02146:Atxn7l1	APN	12	33,418,030 (GRCm39)	missense	probably benign
IGL02202:Atxn7l1	APN	12	33,392,077 (GRCm39)	missense	probably benign	0.05
IGL02804:Atxn7l1	APN	12	33,417,788 (GRCm39)	missense	probably damaging	1.00
IGL03344:Atxn7l1	APN	12	33,376,065 (GRCm39)	missense	probably damaging	1.00
R0270:Atxn7l1	UTSW	12	33,392,150 (GRCm39)	missense	possibly damaging	0.58
R0621:Atxn7l1	UTSW	12	33,376,099 (GRCm39)	missense	probably benign	0.15
R1840:Atxn7l1	UTSW	12	33,421,032 (GRCm39)	splice site	probably null
R1856:Atxn7l1	UTSW	12	33,408,769 (GRCm39)	missense	probably damaging	1.00
R1992:Atxn7l1	UTSW	12	33,408,743 (GRCm39)	missense	probably damaging	1.00
R1993:Atxn7l1	UTSW	12	33,395,976 (GRCm39)	missense	probably benign
R2249:Atxn7l1	UTSW	12	33,408,839 (GRCm39)	missense	probably damaging	1.00
R2369:Atxn7l1	UTSW	12	33,408,849 (GRCm39)	critical splice donor site	probably null
R3695:Atxn7l1	UTSW	12	33,408,696 (GRCm39)	missense	probably damaging	1.00
R3856:Atxn7l1	UTSW	12	33,417,599 (GRCm39)	missense	probably damaging	1.00
R3976:Atxn7l1	UTSW	12	33,375,954 (GRCm39)	missense	probably damaging	1.00
R4151:Atxn7l1	UTSW	12	33,414,481 (GRCm39)	missense	probably damaging	0.96
R4301:Atxn7l1	UTSW	12	33,417,237 (GRCm39)	missense	probably damaging	1.00
R4305:Atxn7l1	UTSW	12	33,391,991 (GRCm39)	missense	probably damaging	0.99
R4411:Atxn7l1	UTSW	12	33,244,886 (GRCm39)	intron	probably benign
R4763:Atxn7l1	UTSW	12	33,408,877 (GRCm39)	intron	probably benign
R5049:Atxn7l1	UTSW	12	33,408,686 (GRCm39)	missense	probably benign	0.00
R5090:Atxn7l1	UTSW	12	33,376,077 (GRCm39)	missense	probably damaging	1.00
R5134:Atxn7l1	UTSW	12	33,422,875 (GRCm39)	missense	probably damaging	1.00
R5425:Atxn7l1	UTSW	12	33,417,119 (GRCm39)	missense	probably damaging	1.00
R6161:Atxn7l1	UTSW	12	33,408,662 (GRCm39)	missense	possibly damaging	0.62
R6813:Atxn7l1	UTSW	12	33,417,123 (GRCm39)	missense	probably damaging	0.96
R7248:Atxn7l1	UTSW	12	33,417,194 (GRCm39)	missense	probably benign	0.26
R8020:Atxn7l1	UTSW	12	33,375,952 (GRCm39)	missense	probably benign	0.10
R8057:Atxn7l1	UTSW	12	33,376,001 (GRCm39)	missense	probably damaging	0.99
R8353:Atxn7l1	UTSW	12	33,197,882 (GRCm39)	missense	probably damaging	0.99
R8523:Atxn7l1	UTSW	12	33,396,023 (GRCm39)	missense	probably benign
R9051:Atxn7l1	UTSW	12	33,417,420 (GRCm39)	missense	probably benign	0.00
R9350:Atxn7l1	UTSW	12	33,417,315 (GRCm39)	missense	probably benign	0.01
R9789:Atxn7l1	UTSW	12	33,396,062 (GRCm39)	missense	probably damaging	1.00
Z1176:Atxn7l1	UTSW	12	33,418,016 (GRCm39)	missense	probably benign	0.00
Z1176:Atxn7l1	UTSW	12	33,417,644 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGGGAGAAAATGTTGCATTG -3'
(R):5'- AAACTTCTGCCTTCCACAGC -3'

Sequencing Primer
(F):5'- TGTTGCATTGTCAAATTTTGCAAG -3'
(R):5'- CCCCAAGTTGTATTTATACTTCGAAG -3'

Posted On

2019-09-13