Mutagenetix > Incidental Mutation

Incidental Mutation 'R0975:Atl3'

81115

Institutional Source

Beutler Lab

Gene Symbol

Atl3

Ensembl Gene

ENSMUSG00000024759

Gene Name

atlastin GTPase 3

Synonyms

5730596K20Rik, 4633402C03Rik

MMRRC Submission

039104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7471178-7515974 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 7498500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 210 (W210*)

Ref Sequence

ENSEMBL: ENSMUSP00000132619 (fasta)

Gene Model

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

AlphaFold

Q91YH5

Predicted Effect

probably null
Transcript: ENSMUST00000025668
AA Change: W215*

SMART Domains

Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: W215*

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 null
Transcript: ENSMUST00000170373
AA Change: W210*

SMART Domains

Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: W210*

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

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,078,155 (GRCm39)	F690L	probably benign	Het
Ampd2	T	C	3: 107,984,437 (GRCm39)	Y464C	probably damaging	Het
Arap2	A	T	5: 62,888,229 (GRCm39)		probably benign	Het
Arhgap5	T	G	12: 52,563,927 (GRCm39)	N299K	possibly damaging	Het
Bag1	T	C	4: 40,937,152 (GRCm39)	N320D	probably benign	Het
Ccdc39	T	C	3: 33,898,274 (GRCm39)	N24D	probably damaging	Het
Ccdc88b	G	A	19: 6,823,993 (GRCm39)	P1420L	probably damaging	Het
Cdr2	G	A	7: 120,557,614 (GRCm39)	P304S	probably benign	Het
Col20a1	A	T	2: 180,648,619 (GRCm39)	I969F	possibly damaging	Het
Coro1c	C	G	5: 114,020,182 (GRCm39)	R11P	probably damaging	Het
Cracd	T	C	5: 77,004,165 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cyp2c67	T	G	19: 39,597,622 (GRCm39)	K459Q	possibly damaging	Het
Cyp2c68	T	C	19: 39,691,802 (GRCm39)	T374A	possibly damaging	Het
Efcab6	T	A	15: 83,857,532 (GRCm39)	N289I	probably benign	Het
Elmo1	T	A	13: 20,435,307 (GRCm39)	I126N	probably damaging	Het
Esr2	C	T	12: 76,192,082 (GRCm39)	M315I	possibly damaging	Het
Fbxw14	T	A	9: 109,100,307 (GRCm39)	N449I	probably benign	Het
Frmpd1	C	T	4: 45,279,000 (GRCm39)	T575I	probably benign	Het
Gm14403	T	G	2: 177,201,217 (GRCm39)	N145K	probably damaging	Het
Gnl2	A	G	4: 124,942,171 (GRCm39)	D392G	probably damaging	Het
Hmcn1	A	C	1: 150,453,128 (GRCm39)	S5396A	probably benign	Het
Hoxd12	G	T	2: 74,506,278 (GRCm39)	R230L	probably damaging	Het
Khsrp	T	A	17: 57,334,066 (GRCm39)	D154V	possibly damaging	Het
Klhl28	C	T	12: 64,998,462 (GRCm39)	R344H	possibly damaging	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Larp1b	A	G	3: 40,924,925 (GRCm39)	E134G	probably damaging	Het
Mcm9	G	A	10: 53,414,742 (GRCm39)	Q113*	probably null	Het
Mug1	A	T	6: 121,855,498 (GRCm39)	D944V	probably damaging	Het
Myh6	A	G	14: 55,190,826 (GRCm39)	S950P	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Or1n1b	C	A	2: 36,780,562 (GRCm39)	M99I	possibly damaging	Het
Or5k14	T	A	16: 58,693,513 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,829,832 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,143,907 (GRCm39)		probably null	Het
Prpf8	T	C	11: 75,399,500 (GRCm39)		probably benign	Het
Rad9b	C	T	5: 122,472,320 (GRCm39)		probably null	Het
Recql5	A	C	11: 115,814,082 (GRCm39)	D240E	probably damaging	Het
Sec31a	A	C	5: 100,543,763 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,241 (GRCm39)	V265A	probably benign	Het
Snx29	A	T	16: 11,165,735 (GRCm39)	D7V	possibly damaging	Het
Stk31	C	G	6: 49,400,343 (GRCm39)	D389E	probably damaging	Het
Tmeff2	T	C	1: 50,977,364 (GRCm39)		probably benign	Het
Tmem131	C	T	1: 36,893,966 (GRCm39)	A146T	probably damaging	Het
Tmem63c	T	A	12: 87,121,843 (GRCm39)		probably benign	Het
Tonsl	T	A	15: 76,523,132 (GRCm39)	D119V	probably damaging	Het
Trmt10a	G	A	3: 137,862,570 (GRCm39)	E287K	probably benign	Het
Vmn1r192	T	A	13: 22,371,633 (GRCm39)	M196L	probably damaging	Het
Vmn2r9	T	G	5: 108,991,169 (GRCm39)	T731P	probably damaging	Het
Wfdc6b	G	A	2: 164,455,705 (GRCm39)	M11I	probably damaging	Het
Ypel1	T	A	16: 16,925,077 (GRCm39)	T32S	probably benign	Het
Zfp827	A	G	8: 79,787,814 (GRCm39)	T327A	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
R0042:Atl3	UTSW	19	7,506,388 (GRCm39)	missense	probably damaging	1.00
R0607:Atl3	UTSW	19	7,507,031 (GRCm39)	critical splice donor site	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'- GCCGCCTGGCAATGGATGA -3'
(R):5'- TCTCCTCTTTCTCTAGCACAACACAAGT -3'

Sequencing Primer
(F):5'- CTACAGGGttgtttgtttgttttttg -3'
(R):5'- TTTCTCTAGCACAACACAAGTAATAC -3'

Posted On

2013-11-07