Mutagenetix > Incidental Mutation

Incidental Mutation 'R4411:Atxn7l1'

327929

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l1

Ensembl Gene

ENSMUSG00000020564

Gene Name

ataxin 7-like 1

Synonyms

2810423G08Rik, Atxn7l4

MMRRC Submission

041693-MU

Accession Numbers

Essential gene?

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

Stock #

R4411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33197692-33423184 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 33244886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122156 (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 benign
Transcript: ENSMUST00000110824

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000130740

Predicted Effect

probably benign
Transcript: ENSMUST00000136644

Predicted Effect

probably benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155877

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,781 (GRCm39)	I423V	probably benign	Het
Abl2	T	C	1: 156,457,652 (GRCm39)	V306A	possibly damaging	Het
Adcy4	T	C	14: 56,006,900 (GRCm39)	Y1006C	probably damaging	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Arid5b	T	C	10: 67,932,519 (GRCm39)	R885G	probably damaging	Het
Atp9a	A	T	2: 168,503,853 (GRCm39)	V613E	probably damaging	Het
Brd8	C	A	18: 34,756,497 (GRCm39)		probably benign	Het
Bsnd	C	T	4: 106,343,868 (GRCm39)	R146H	probably benign	Het
C4b	C	T	17: 34,947,838 (GRCm39)	R1659H	probably damaging	Het
Duox1	G	A	2: 122,168,115 (GRCm39)	R1080H	probably benign	Het
Eml2	T	C	7: 18,916,326 (GRCm39)		probably null	Het
Fbxo44	G	A	4: 148,238,065 (GRCm39)	R221C	probably damaging	Het
Frem1	T	C	4: 82,881,481 (GRCm39)	D166G	probably damaging	Het
Galnt5	T	C	2: 57,889,207 (GRCm39)	L269P	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Gpc6	T	C	14: 118,188,590 (GRCm39)	V408A	probably benign	Het
Hspg2	A	G	4: 137,289,535 (GRCm39)	T3832A	probably benign	Het
Ift88	A	G	14: 57,715,436 (GRCm39)	N493S	probably damaging	Het
Ighv1-76	A	T	12: 115,811,731 (GRCm39)	C41S	probably damaging	Het
Igkv12-46	G	A	6: 69,741,930 (GRCm39)	T16I	probably benign	Het
Igkv3-9	G	T	6: 70,565,547 (GRCm39)	V49F	probably damaging	Het
Isoc2b	A	T	7: 4,852,433 (GRCm39)		probably benign	Het
Lcp2	T	A	11: 34,037,173 (GRCm39)		probably benign	Het
Lmntd1	A	G	6: 145,373,003 (GRCm39)		probably null	Het
Mdm2	A	T	10: 117,545,694 (GRCm39)		probably null	Het
Mrgprx3-ps	T	C	7: 46,959,746 (GRCm39)		noncoding transcript	Het
Msh2	T	C	17: 88,025,032 (GRCm39)	S637P	probably damaging	Het
Myo5b	T	C	18: 74,831,345 (GRCm39)	F765S	possibly damaging	Het
Nav2	T	A	7: 49,047,857 (GRCm39)	N91K	probably benign	Het
Ndor1	G	A	2: 25,138,492 (GRCm39)	P363S	probably benign	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Pcdhb5	T	C	18: 37,455,050 (GRCm39)	S477P	possibly damaging	Het
Pde3b	GTGATGATGATGATGATGATGATGATG	GTGATGATGATGATGATGATGATG	7: 114,133,984 (GRCm39)		probably benign	Het
Pnpla7	G	A	2: 24,941,716 (GRCm39)	W13*	probably null	Het
Pnpla8	T	C	12: 44,330,225 (GRCm39)	V41A	probably benign	Het
Prdm2	A	T	4: 142,860,240 (GRCm39)	S1017T	probably benign	Het
Prdm5	T	A	6: 65,878,771 (GRCm39)	Y108*	probably null	Het
Rab34	T	A	11: 78,079,592 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,275,623 (GRCm39)	E410G	possibly damaging	Het
Smpd5	G	T	15: 76,179,112 (GRCm39)	R160L	possibly damaging	Het
Spmip10	A	G	18: 56,727,720 (GRCm39)	T65A	probably benign	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Taf5	T	A	19: 47,059,453 (GRCm39)	V199D	probably damaging	Het
Tas2r114	C	T	6: 131,666,585 (GRCm39)	V148I	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tnfrsf25	G	A	4: 152,202,843 (GRCm39)		probably benign	Het
Tpd52l1	T	C	10: 31,255,315 (GRCm39)	T11A	possibly damaging	Het
Trmt1l	G	A	1: 151,327,905 (GRCm39)	E472K	probably benign	Het
Ttc17	T	C	2: 94,173,098 (GRCm39)	K766E	probably damaging	Het
Ttn	C	T	2: 76,560,633 (GRCm39)	R29256Q	probably damaging	Het
Ttn	T	C	2: 76,572,414 (GRCm39)	I26160V	probably damaging	Het
Ubxn6	A	T	17: 56,376,303 (GRCm39)	V311E	probably damaging	Het
Usp2	T	C	9: 44,002,360 (GRCm39)	S351P	probably damaging	Het
Usp7	C	A	16: 8,526,778 (GRCm39)	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,511,360 (GRCm39)	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Zfp455	A	T	13: 67,355,389 (GRCm39)	N219I	probably damaging	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
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
R7328:Atxn7l1	UTSW	12	33,198,502 (GRCm39)	critical splice donor site	probably null
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'- GACTTGTTCATCTGGGATCCC -3'
(R):5'- AAAGCGGTGTACATGTCTGTG -3'

Sequencing Primer
(F):5'- AGATCCTTCTTTTCTTGGATTGTAAG -3'
(R):5'- CTCATAATTCACTGAGGCAGGGTC -3'

Posted On

2015-07-07