Mutagenetix > Incidental Mutation

Incidental Mutation 'R0189:Atxn7l3b'

23123

Institutional Source

Beutler Lab

Gene Symbol

Atxn7l3b

Ensembl Gene

ENSMUSG00000074748

Gene Name

ataxin 7-like 3B

Synonyms

ENSMUSG00000074747, 4921506J03Rik, 6230409E21Rik

MMRRC Submission

038450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R0189 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

112761335-112764906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112764485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 48 (L48Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099276]

AlphaFold

Q3UD01

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082773

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099276
AA Change: L48Q

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180464

SMART Domains

Protein: ENSMUSP00000137774
Gene: ENSMUSG00000097185

Domain	Start	End	E-Value	Type
low complexity region	37	69	N/A	INTRINSIC
low complexity region	135	148	N/A	INTRINSIC

Meta Mutation Damage Score

0.4043

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.1%

Validation Efficiency

98% (96/98)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 109,999,479 (GRCm39)	W1459R	probably damaging	Het
Abca9	A	T	11: 110,032,488 (GRCm39)		probably benign	Het
Adam25	T	A	8: 41,208,467 (GRCm39)	C578S	probably damaging	Het
Adam32	T	A	8: 25,412,353 (GRCm39)		probably null	Het
Add1	T	C	5: 34,773,992 (GRCm39)	V67A	probably benign	Het
Aggf1	A	T	13: 95,492,988 (GRCm39)		probably benign	Het
Ahcyl2	A	T	6: 29,891,242 (GRCm39)	I449F	probably benign	Het
Ak6	A	G	13: 100,791,650 (GRCm39)	Y31C	probably damaging	Het
Akap6	T	C	12: 53,188,037 (GRCm39)	V1817A	probably benign	Het
Arhgef17	G	T	7: 100,578,057 (GRCm39)	P964T	probably damaging	Het
Bbs10	T	G	10: 111,136,926 (GRCm39)	S680A	probably damaging	Het
Bcl7c	G	A	7: 127,304,936 (GRCm39)	T164I	probably damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Ccdc110	T	A	8: 46,388,119 (GRCm39)	D25E	probably damaging	Het
Ccdc83	T	A	7: 89,875,891 (GRCm39)	T327S	possibly damaging	Het
Coro1b	T	C	19: 4,203,250 (GRCm39)	Y364H	probably damaging	Het
Cstf3	A	G	2: 104,482,791 (GRCm39)	D313G	probably damaging	Het
Dlgap5	T	A	14: 47,650,432 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,547 (GRCm39)	I83N	probably damaging	Het
Eea1	A	T	10: 95,831,444 (GRCm39)	K178N	possibly damaging	Het
Efr3b	T	A	12: 4,032,925 (GRCm39)	D144V	probably damaging	Het
Gfus	C	A	15: 75,798,827 (GRCm39)	D127Y	probably damaging	Het
Gm1110	T	A	9: 26,794,514 (GRCm39)	E504V	probably null	Het
Got2	T	C	8: 96,614,881 (GRCm39)	H18R	probably benign	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Has2	A	T	15: 56,531,831 (GRCm39)	F295I	probably damaging	Het
Hcn3	T	C	3: 89,056,107 (GRCm39)	D519G	probably damaging	Het
Ino80	T	A	2: 119,210,160 (GRCm39)	D1377V	probably benign	Het
Iqsec3	A	T	6: 121,390,521 (GRCm39)		probably benign	Het
Kif3c	T	A	12: 3,415,989 (GRCm39)	S3R	probably benign	Het
Krt17	A	G	11: 100,151,445 (GRCm39)	I116T	possibly damaging	Het
Lrba	T	C	3: 86,275,816 (GRCm39)	V1728A	probably damaging	Het
Map3k6	G	T	4: 132,974,252 (GRCm39)	V550L	possibly damaging	Het
Mcph1	T	C	8: 18,838,487 (GRCm39)	V803A	probably damaging	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Ms4a20	A	G	19: 11,074,311 (GRCm39)	V207A	possibly damaging	Het
Msh5	T	C	17: 35,248,630 (GRCm39)	E772G	probably null	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndfip2	T	C	14: 105,542,174 (GRCm39)	L308P	probably damaging	Het
Ndufb10	T	C	17: 24,943,209 (GRCm39)	T34A	probably benign	Het
Nipal3	A	T	4: 135,195,829 (GRCm39)	I258N	possibly damaging	Het
Nup54	A	G	5: 92,570,423 (GRCm39)	V328A	probably damaging	Het
Oprm1	T	C	10: 6,739,071 (GRCm39)	V66A	possibly damaging	Het
Or10p21	T	A	10: 128,847,191 (GRCm39)	F12L	possibly damaging	Het
Or51ah3	G	T	7: 103,210,289 (GRCm39)	V202F	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8b56	T	A	9: 38,739,111 (GRCm39)	Y41*	probably null	Het
Or9s14	T	C	1: 92,535,615 (GRCm39)	F19L	probably damaging	Het
Peg12	G	A	7: 62,113,296 (GRCm39)	T267I	unknown	Het
Phf20	A	G	2: 156,145,061 (GRCm39)	S890G	probably benign	Het
Plk2	C	T	13: 110,535,997 (GRCm39)	T567M	probably damaging	Het
Pola2	A	T	19: 5,992,370 (GRCm39)		probably benign	Het
Ppp1r12b	A	G	1: 134,793,514 (GRCm39)		probably null	Het
Prickle1	A	T	15: 93,400,900 (GRCm39)	L528*	probably null	Het
Prpf6	T	A	2: 181,297,250 (GRCm39)	N903K	probably benign	Het
Ptprc	G	A	1: 138,010,453 (GRCm39)	A601V	probably benign	Het
Ranbp1	A	T	16: 18,059,607 (GRCm39)		probably null	Het
Rapgef6	C	T	11: 54,582,075 (GRCm39)	S1334L	probably benign	Het
Rgs2	T	C	1: 143,878,022 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,129,125 (GRCm39)		probably null	Het
Rnf17	A	G	14: 56,719,650 (GRCm39)	S967G	probably null	Het
Rock2	T	A	12: 17,009,517 (GRCm39)		probably benign	Het
Rpusd3	C	T	6: 113,392,514 (GRCm39)		probably null	Het
Scgb1b20	G	T	7: 33,072,935 (GRCm39)	V48L	probably benign	Het
Sec16a	T	A	2: 26,314,426 (GRCm39)		probably null	Het
Serpina5	T	A	12: 104,069,589 (GRCm39)	L267H	probably damaging	Het
Slc12a3	C	T	8: 95,082,986 (GRCm39)	H875Y	probably benign	Het
Slc45a4	A	G	15: 73,453,763 (GRCm39)	S745P	probably benign	Het
Sucla2	T	C	14: 73,830,088 (GRCm39)	V375A	probably damaging	Het
Sun2	C	A	15: 79,621,277 (GRCm39)	V213F	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	C	T	6: 7,562,424 (GRCm39)	R129C	probably damaging	Het
Taf6	T	C	5: 138,180,975 (GRCm39)	E202G	probably benign	Het
Tex21	T	A	12: 76,286,307 (GRCm39)	H64L	probably benign	Het
Tgs1	A	G	4: 3,593,620 (GRCm39)	S503G	probably benign	Het
Tmem184c	C	T	8: 78,324,441 (GRCm39)	V350I	possibly damaging	Het
Tnks1bp1	A	G	2: 84,901,273 (GRCm39)	S960G	possibly damaging	Het
Trbc2	T	C	6: 41,525,083 (GRCm39)		probably benign	Het
Tubgcp2	A	T	7: 139,581,518 (GRCm39)		probably benign	Het
Vmn1r39	T	A	6: 66,782,181 (GRCm39)	T46S	probably benign	Het
Vmn1r61	T	C	7: 5,613,699 (GRCm39)	H205R	probably benign	Het
Zdhhc14	T	C	17: 5,775,539 (GRCm39)	S264P	possibly damaging	Het
Zfp101	T	A	17: 33,601,213 (GRCm39)	H181L	possibly damaging	Het

Other mutations in Atxn7l3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03284:Atxn7l3b	APN	10	112,764,431 (GRCm39)	missense	probably benign	0.20
R1902:Atxn7l3b	UTSW	10	112,764,578 (GRCm39)	missense	probably benign	0.36
R4193:Atxn7l3b	UTSW	10	112,764,610 (GRCm39)	missense	probably damaging	0.99
R4956:Atxn7l3b	UTSW	10	112,764,501 (GRCm39)	missense	probably damaging	0.97
R4989:Atxn7l3b	UTSW	10	112,764,649 (GRCm39)	utr 5 prime	probably benign
R8344:Atxn7l3b	UTSW	10	112,764,567 (GRCm39)	missense	possibly damaging	0.92
Z1177:Atxn7l3b	UTSW	10	112,764,384 (GRCm39)	missense	probably damaging	1.00
Z1177:Atxn7l3b	UTSW	10	112,764,359 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTATTCCTCCAAAGCCACGGGGAC -3'
(R):5'- AGTGTGCCGTGAGTAAAGCCAG -3'

Sequencing Primer
(F):5'- CACGGGGACCAGTCTCTATTATTG -3'
(R):5'- TGAGTAAAGCCAGCGCCC -3'

Posted On

2013-04-16