Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Atl3'

63267

Institutional Source

Beutler Lab

Gene Symbol

Atl3

Ensembl Gene

ENSMUSG00000024759

Gene Name

atlastin GTPase 3

Synonyms

5730596K20Rik, 4633402C03Rik

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0042 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

7471178-7515974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 7506388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 306 (I306S)

Ref Sequence

ENSEMBL: ENSMUSP00000132619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025668] [ENSMUST00000170373]

AlphaFold

Q91YH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025668
AA Change: I311S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: I311S

Domain	Start	End	E-Value	Type
Pfam:GBP	36	310	7.2e-99	PFAM
Pfam:GBP_C	312	438	1.7e-9	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170373
AA Change: I306S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: I306S

Domain	Start	End	E-Value	Type
Pfam:GBP	31	305	9.1e-98	PFAM
Pfam:GBP_C	307	433	7.4e-10	PFAM
transmembrane domain	439	461	N/A	INTRINSIC
transmembrane domain	463	485	N/A	INTRINSIC

Meta Mutation Damage Score

0.6033

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Acr	T	A	15: 89,458,535 (GRCm39)	H405Q	probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Dym	T	C	18: 75,258,610 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
Or8h7	A	G	2: 86,720,835 (GRCm39)	I228T	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rdh10	T	C	1: 16,178,260 (GRCm39)		probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	probably benign	Het

Other mutations in Atl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02667:Atl3	APN	19	7,486,781 (GRCm39)	missense	possibly damaging	0.72
R0607:Atl3	UTSW	19	7,507,031 (GRCm39)	critical splice donor site	probably null
R0975:Atl3	UTSW	19	7,498,500 (GRCm39)	nonsense	probably null
R1582:Atl3	UTSW	19	7,494,264 (GRCm39)	missense	probably damaging	1.00
R4195:Atl3	UTSW	19	7,495,911 (GRCm39)	missense	possibly damaging	0.59
R4249:Atl3	UTSW	19	7,509,703 (GRCm39)	missense	probably benign	0.06
R4505:Atl3	UTSW	19	7,498,184 (GRCm39)	missense	probably benign	0.00
R4836:Atl3	UTSW	19	7,486,910 (GRCm39)	nonsense	probably null
R5649:Atl3	UTSW	19	7,509,592 (GRCm39)	missense	possibly damaging	0.50
R5721:Atl3	UTSW	19	7,506,376 (GRCm39)	missense	probably benign	0.00
R6459:Atl3	UTSW	19	7,498,163 (GRCm39)	missense	probably benign	0.07
R6530:Atl3	UTSW	19	7,499,499 (GRCm39)	missense	probably benign
R6543:Atl3	UTSW	19	7,487,463 (GRCm39)	missense	probably damaging	1.00
R6550:Atl3	UTSW	19	7,499,503 (GRCm39)	missense	probably benign
R7059:Atl3	UTSW	19	7,511,334 (GRCm39)	missense	probably benign	0.08
R7059:Atl3	UTSW	19	7,511,333 (GRCm39)	missense	probably benign
R7220:Atl3	UTSW	19	7,506,433 (GRCm39)	missense	probably null	0.02
R7666:Atl3	UTSW	19	7,487,405 (GRCm39)	missense	probably benign	0.19
R9143:Atl3	UTSW	19	7,509,408 (GRCm39)	missense	probably benign	0.01
R9206:Atl3	UTSW	19	7,487,447 (GRCm39)	missense	probably benign	0.09
R9208:Atl3	UTSW	19	7,487,447 (GRCm39)	missense	probably benign	0.09
R9631:Atl3	UTSW	19	7,509,553 (GRCm39)	missense	probably benign	0.00
R9709:Atl3	UTSW	19	7,507,921 (GRCm39)	missense	probably benign	0.00
R9733:Atl3	UTSW	19	7,509,705 (GRCm39)	missense	probably damaging	0.99
X0020:Atl3	UTSW	19	7,507,934 (GRCm39)	missense	probably benign	0.00
Z1176:Atl3	UTSW	19	7,487,402 (GRCm39)	missense	probably damaging	1.00
Z1177:Atl3	UTSW	19	7,507,918 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ATCAGGACGGCAGTCTATCAGCAG -3'
(R):5'- TGCACAATGGCCTCACCATGAC -3'

Sequencing Primer
(F):5'- TATCAGCAGCCGGACCTC -3'
(R):5'- GAGAGAGCTGCATCCCATCTATG -3'

Posted On

2013-07-30