Mutagenetix > Incidental Mutation

Incidental Mutation 'R9350:Atxn7l1'

708030

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l1

Ensembl Gene

ENSMUSG00000020564

Gene Name

ataxin 7-like 1

Synonyms

2810423G08Rik, Atxn7l4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33197692-33423184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33417315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 492 (T492I)

Ref Sequence

ENSEMBL: ENSMUSP00000088085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090597] [ENSMUST00000125192] [ENSMUST00000146040] [ENSMUST00000154742]

AlphaFold

Q9CZ05

Predicted Effect

probably benign
Transcript: ENSMUST00000090597
AA Change: T492I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: T492I

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	95	110	N/A	INTRINSIC
Pfam:SCA7	143	220	2.5e-31	PFAM
low complexity region	274	288	N/A	INTRINSIC
low complexity region	380	392	N/A	INTRINSIC
low complexity region	471	501	N/A	INTRINSIC
low complexity region	519	538	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: T588I

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

SMART Domains

Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: T690I

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

probably benign
Transcript: ENSMUST00000154742
AA Change: T492I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: T492I

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	95	110	N/A	INTRINSIC
Pfam:SCA7	150	218	1.3e-31	PFAM
low complexity region	274	288	N/A	INTRINSIC
low complexity region	380	392	N/A	INTRINSIC
low complexity region	471	501	N/A	INTRINSIC
low complexity region	519	538	N/A	INTRINSIC
low complexity region	696	714	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,022,669 (GRCm39)	M274L	probably benign	Het
Adarb1	T	A	10: 77,158,267 (GRCm39)	N60I	possibly damaging	Het
Adgrv1	T	A	13: 81,654,274 (GRCm39)	N2919I	probably damaging	Het
Adora3	C	T	3: 105,814,613 (GRCm39)	T121M	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,260 (GRCm39)	N423Y	probably damaging	Het
Arhgap19	A	T	19: 41,761,566 (GRCm39)	F466Y	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
B3galnt2	T	C	13: 14,170,393 (GRCm39)	S248P	probably damaging	Het
Casp2	T	C	6: 42,246,332 (GRCm39)	V230A	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctnnbl1	G	A	2: 157,651,445 (GRCm39)	G240E	possibly damaging	Het
Dennd2c	T	C	3: 103,039,308 (GRCm39)	L152P	possibly damaging	Het
Dhx16	T	A	17: 36,200,203 (GRCm39)	F874Y	probably damaging	Het
Dnah14	A	T	1: 181,562,369 (GRCm39)	Y2643F	possibly damaging	Het
Dnah2	C	A	11: 69,384,073 (GRCm39)	V1048L	probably benign	Het
Dnah7a	T	C	1: 53,436,307 (GRCm39)	I4012V	probably benign	Het
Duox2	G	A	2: 122,115,729 (GRCm39)	R1002*	probably null	Het
Ears2	T	A	7: 121,643,786 (GRCm39)	K391*	probably null	Het
Eif4e	T	C	3: 138,259,470 (GRCm39)	V176A	probably benign	Het
Erbb4	T	A	1: 68,329,638 (GRCm39)	I626L	probably benign	Het
Fam171a1	C	T	2: 3,226,037 (GRCm39)	T390I	probably benign	Het
Fam187b	A	G	7: 30,677,037 (GRCm39)	E182G	possibly damaging	Het
Fam204a	A	G	19: 60,209,685 (GRCm39)	V15A	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Fzd6	A	G	15: 38,895,043 (GRCm39)	D403G	probably damaging	Het
Gars1	G	A	6: 55,029,249 (GRCm39)	A210T	probably null	Het
Gmcl1	A	T	6: 86,677,569 (GRCm39)	I428N	probably damaging	Het
Gmip	T	A	8: 70,263,832 (GRCm39)	I92N	probably damaging	Het
Il17rc	G	A	6: 113,456,048 (GRCm39)	V298I	probably damaging	Het
Kifap3	A	G	1: 163,610,630 (GRCm39)	I37V	probably benign	Het
Marf1	T	C	16: 13,963,789 (GRCm39)	K505E	probably damaging	Het
Masp2	A	T	4: 148,692,396 (GRCm39)		probably null	Het
Mmp15	G	A	8: 96,093,002 (GRCm39)	R127H	probably damaging	Het
Nrdc	A	G	4: 108,889,658 (GRCm39)	T402A	possibly damaging	Het
Or10d1c	A	T	9: 38,894,081 (GRCm39)	N86K	probably benign	Het
Or4k6	T	A	14: 50,475,407 (GRCm39)	I312L	probably benign	Het
Papln	A	T	12: 83,833,638 (GRCm39)	I1185F	probably damaging	Het
Pcdhgb1	A	G	18: 37,814,705 (GRCm39)	N399D	probably benign	Het
Pcdhgb6	T	A	18: 37,876,872 (GRCm39)	S527T	probably benign	Het
Phkb	T	A	8: 86,743,493 (GRCm39)	Y530*	probably null	Het
Pira2	A	G	7: 3,844,030 (GRCm39)	S581P	probably benign	Het
Pou4f3	A	T	18: 42,528,329 (GRCm39)	T91S	probably benign	Het
Prpf38a	A	G	4: 108,424,112 (GRCm39)	S296P	unknown	Het
Rnf213	T	C	11: 119,332,975 (GRCm39)	V2729A		Het
Rtl1	G	A	12: 109,557,226 (GRCm39)	Q1538*	probably null	Het
Sars2	T	C	7: 28,447,273 (GRCm39)	S224P	probably damaging	Het
Senp8	A	G	9: 59,645,105 (GRCm39)	V17A	probably benign	Het
Serpinb13	T	A	1: 106,923,562 (GRCm39)	L89*	probably null	Het
Sh3bp2	T	A	5: 34,718,453 (GRCm39)		probably null	Het
Shank2	A	G	7: 143,960,945 (GRCm39)	T254A	probably benign	Het
Smdt1	A	T	15: 82,231,504 (GRCm39)	E12D	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar2	A	G	10: 23,817,345 (GRCm39)	N295S	probably damaging	Het
Trim24	A	G	6: 37,892,208 (GRCm39)	Q247R	probably damaging	Het
Trpc4	T	A	3: 54,209,610 (GRCm39)	N658K	probably damaging	Het
Ube2e1	T	C	14: 18,284,348 (GRCm38)	D137G	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Vmn1r235	A	G	17: 21,482,190 (GRCm39)	T172A	probably benign	Het
Vps13d	A	G	4: 144,882,333 (GRCm39)	F1087L		Het
Xirp2	T	C	2: 67,349,653 (GRCm39)	S3283P	probably damaging	Het
Zeb2	C	A	2: 44,887,158 (GRCm39)	S633I	possibly 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
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
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
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'- CTCAGACGCAGCTTTTGTG -3'
(R):5'- TTGAGTTGTGCACAGACAGAC -3'

Sequencing Primer
(F):5'- ACGCAGCTTTTGTGGCATC -3'
(R):5'- CTGCCTGATAGGAGTTCAAAGC -3'

Posted On

2022-04-18