Mutagenetix > Incidental Mutations

Incidental Mutation 'R6161:Atxn7l1'

489885

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l1

Ensembl Gene

ENSMUSG00000020564

Gene Name

ataxin 7-like 1

Synonyms

Atxn7l4, 2810423G08Rik

MMRRC Submission

044308-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R6161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33147693-33373185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33358663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 275 (S275T)

Ref Sequence

ENSEMBL: ENSMUSP00000088085 (fasta)

Gene Model

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

AlphaFold

Q9CZ05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090597
AA Change: S275T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: S275T

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

probably benign
Transcript: ENSMUST00000125192
AA Change: S371T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: S371T

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: ENSMUST00000126275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138617

Predicted Effect

probably benign
Transcript: ENSMUST00000146040
AA Change: S371T

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: S371T

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: S275T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: S275T

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,540,711	K1533M	probably damaging	Het
Aldh1l2	C	T	10: 83,520,338	V63I	probably benign	Het
Atr	A	G	9: 95,865,319	H218R	probably benign	Het
Cacna1c	T	C	6: 119,057,302	K88R	probably damaging	Het
Ccl7	T	C	11: 82,046,586	Y49H	probably damaging	Het
Cd3eap	G	A	7: 19,357,633	T183I	possibly damaging	Het
Cers5	A	G	15: 99,738,663		probably null	Het
Chuk	T	C	19: 44,082,637	E543G	probably damaging	Het
Dip2c	T	C	13: 9,647,007	V1318A	probably damaging	Het
Ercc5	A	G	1: 44,167,352	H475R	probably benign	Het
Fat3	A	G	9: 16,377,522	L235P	probably damaging	Het
Fbn1	A	T	2: 125,369,801	C892*	probably null	Het
Fbxw8	T	C	5: 118,092,675	T354A	possibly damaging	Het
Fsip2	A	C	2: 82,987,257	T4445P	possibly damaging	Het
Gpld1	A	T	13: 24,971,414	Q344L	probably benign	Het
Hao1	A	T	2: 134,505,625	D253E	probably benign	Het
Hmcn2	A	G	2: 31,356,254	D745G	probably benign	Het
Kcnt1	A	G	2: 25,903,385	T658A	probably benign	Het
Klhl35	A	G	7: 99,473,337		probably benign	Het
Lnx2	C	T	5: 147,042,026		probably null	Het
Map3k5	T	C	10: 20,000,575	V160A	probably damaging	Het
Masp2	A	T	4: 148,614,012	I517F	possibly damaging	Het
Mc4r	A	T	18: 66,859,180	Y287*	probably null	Het
Mthfr	A	G	4: 148,041,754	D94G	probably benign	Het
Muc16	A	G	9: 18,647,818	I2393T	unknown	Het
Mybbp1a	G	T	11: 72,446,012	V557L	probably damaging	Het
Mycbp2	A	T	14: 103,298,747	W256R	probably damaging	Het
Nacad	G	A	11: 6,600,902	S763L	probably benign	Het
Nebl	A	G	2: 17,730,830	V11A	probably benign	Het
Notch1	A	T	2: 26,468,731	C1363S	probably damaging	Het
Nphp3	A	G	9: 104,031,906	N772D	probably benign	Het
Nqo2	G	A	13: 33,979,651	V98M	probably damaging	Het
Pak4	A	G	7: 28,565,267	I70T	possibly damaging	Het
Pbx2	A	G	17: 34,593,600	K2E	probably damaging	Het
Pikfyve	A	G	1: 65,216,043	T352A	probably benign	Het
Pop1	T	C	15: 34,526,310	Y684H	probably damaging	Het
Rpa1	A	G	11: 75,314,895	V212A	probably damaging	Het
Rpap2	A	G	5: 107,620,670	E458G	probably damaging	Het
Sin3a	T	C	9: 57,095,424	V200A	possibly damaging	Het
Sla	T	C	15: 66,782,598	T280A	probably null	Het
Slc22a26	A	T	19: 7,786,447	I406K	possibly damaging	Het
Slc24a1	T	C	9: 64,937,263	N606S	unknown	Het
Slc39a10	G	A	1: 46,827,407	T443M	probably damaging	Het
Smg1	A	T	7: 118,163,330		probably benign	Het
Sra1	G	A	18: 36,670,283	A9V	probably damaging	Het
Stard4	A	G	18: 33,209,056	V47A	probably damaging	Het
Stat4	A	T	1: 52,074,677	D182V	possibly damaging	Het
Syt1	A	G	10: 108,631,807	F210L	probably damaging	Het
Ube2q1	T	A	3: 89,781,360		probably null	Het
Vmn1r159	C	T	7: 22,843,187	C140Y	possibly damaging	Het
Wnt8a	T	C	18: 34,545,546	F138L	possibly damaging	Het
Zfp623	T	A	15: 75,948,621	D475E	probably benign	Het
Zfp646	C	T	7: 127,878,725	R25W	probably damaging	Het

Other mutations in Atxn7l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02130:Atxn7l1	APN	12	33342142	missense	probably damaging	1.00
IGL02146:Atxn7l1	APN	12	33368031	missense	probably benign
IGL02202:Atxn7l1	APN	12	33342078	missense	probably benign	0.05
IGL02804:Atxn7l1	APN	12	33367789	missense	probably damaging	1.00
IGL03344:Atxn7l1	APN	12	33326066	missense	probably damaging	1.00
R0270:Atxn7l1	UTSW	12	33342151	missense	possibly damaging	0.58
R0621:Atxn7l1	UTSW	12	33326100	missense	probably benign	0.15
R1840:Atxn7l1	UTSW	12	33371033	splice site	probably null
R1856:Atxn7l1	UTSW	12	33358770	missense	probably damaging	1.00
R1992:Atxn7l1	UTSW	12	33358744	missense	probably damaging	1.00
R1993:Atxn7l1	UTSW	12	33345977	missense	probably benign
R2249:Atxn7l1	UTSW	12	33358840	missense	probably damaging	1.00
R2369:Atxn7l1	UTSW	12	33358850	critical splice donor site	probably null
R3695:Atxn7l1	UTSW	12	33358697	missense	probably damaging	1.00
R3856:Atxn7l1	UTSW	12	33367600	missense	probably damaging	1.00
R3976:Atxn7l1	UTSW	12	33325955	missense	probably damaging	1.00
R4151:Atxn7l1	UTSW	12	33364482	missense	probably damaging	0.96
R4301:Atxn7l1	UTSW	12	33367238	missense	probably damaging	1.00
R4305:Atxn7l1	UTSW	12	33341992	missense	probably damaging	0.99
R4411:Atxn7l1	UTSW	12	33194887	intron	probably benign
R4763:Atxn7l1	UTSW	12	33358878	intron	probably benign
R5049:Atxn7l1	UTSW	12	33358687	missense	probably benign	0.00
R5090:Atxn7l1	UTSW	12	33326078	missense	probably damaging	1.00
R5134:Atxn7l1	UTSW	12	33372876	missense	probably damaging	1.00
R5425:Atxn7l1	UTSW	12	33367120	missense	probably damaging	1.00
R6813:Atxn7l1	UTSW	12	33367124	missense	probably damaging	0.96
R7248:Atxn7l1	UTSW	12	33367195	missense	probably benign	0.26
R7328:Atxn7l1	UTSW	12	33148503	critical splice donor site	probably null
R8020:Atxn7l1	UTSW	12	33325953	missense	probably benign	0.10
R8057:Atxn7l1	UTSW	12	33326002	missense	probably damaging	0.99
R8353:Atxn7l1	UTSW	12	33147883	missense	probably damaging	0.99
R8523:Atxn7l1	UTSW	12	33346024	missense	probably benign
R9051:Atxn7l1	UTSW	12	33367421	missense	probably benign	0.00
R9350:Atxn7l1	UTSW	12	33367316	missense	probably benign	0.01
Z1176:Atxn7l1	UTSW	12	33367645	missense	probably benign	0.00
Z1176:Atxn7l1	UTSW	12	33368017	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGCCTTGTACTCCAGAGG -3'
(R):5'- GGTGTGTGGAGAACTGACAGTC -3'

Sequencing Primer
(F):5'- CTACTAACAGTAGTGGGTCCCTGAG -3'
(R):5'- GGAGAACTGACAGTCTAACTTCTCG -3'

Posted On

2017-10-10