Mutagenetix > Incidental Mutation

Incidental Mutation 'R6459:Atl3'

517542

Institutional Source

Beutler Lab

Gene Symbol

Atl3

Ensembl Gene

ENSMUSG00000024759

Gene Name

atlastin GTPase 3

Synonyms

5730596K20Rik, 4633402C03Rik

MMRRC Submission

044594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6459 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

7471178-7515974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7498163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 186 (E186D)

Ref Sequence

ENSEMBL: ENSMUSP00000132619 (fasta)

Gene Model

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

AlphaFold

Q91YH5

Predicted Effect

probably benign
Transcript: ENSMUST00000025668
AA Change: E191D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: E191D

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 benign
Transcript: ENSMUST00000170373
AA Change: E186D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: E186D

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	C	A	11: 76,315,815 (GRCm39)	R583L	probably damaging	Het
Acss1	A	G	2: 150,509,840 (GRCm39)	I93T	probably damaging	Het
Ank3	C	T	10: 69,827,577 (GRCm39)		probably benign	Het
Aoah	A	G	13: 21,184,112 (GRCm39)	Y392C	probably damaging	Het
Atp4a	A	G	7: 30,411,887 (GRCm39)	K41E	probably benign	Het
Atp9a	G	A	2: 168,509,933 (GRCm39)	P500L	probably damaging	Het
Ccdc88b	A	T	19: 6,832,246 (GRCm39)	V363D	possibly damaging	Het
Cftr	T	C	6: 18,258,235 (GRCm39)	V532A	probably damaging	Het
Cldn13	T	C	5: 134,943,769 (GRCm39)	T139A	possibly damaging	Het
Cnksr3	T	C	10: 7,076,820 (GRCm39)	Y124C	probably benign	Het
Cyb5r2	T	C	7: 107,352,462 (GRCm39)	K161E	possibly damaging	Het
Epop	T	C	11: 97,519,333 (GRCm39)	S259G	possibly damaging	Het
Fhl2	G	A	1: 43,162,813 (GRCm39)	T234I	possibly damaging	Het
Fnip2	T	C	3: 79,388,941 (GRCm39)	T567A	possibly damaging	Het
Frmd4b	A	G	6: 97,464,601 (GRCm39)	C39R	probably damaging	Het
Grhl3	T	C	4: 135,284,744 (GRCm39)	N116S	possibly damaging	Het
Igkv14-111	A	T	6: 68,233,725 (GRCm39)	R75S	probably benign	Het
Il16	A	T	7: 83,371,529 (GRCm39)	D92E	probably damaging	Het
Il16	C	A	7: 83,371,536 (GRCm39)	G90V	probably damaging	Het
Ipo11	T	C	13: 107,002,277 (GRCm39)		probably null	Het
Kng2	A	G	16: 22,830,865 (GRCm39)	I148T	probably damaging	Het
Lrrc41	T	C	4: 115,945,977 (GRCm39)	S231P	possibly damaging	Het
Maneal	C	T	4: 124,750,635 (GRCm39)	V374I	possibly damaging	Het
Mgat4c	T	A	10: 102,220,988 (GRCm39)	L90Q	probably damaging	Het
Mrps28	A	G	3: 8,965,040 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 26,963,051 (GRCm39)	D452G	probably benign	Het
Nefh	T	C	11: 4,889,551 (GRCm39)	T1023A	unknown	Het
Nipa1	A	G	7: 55,629,354 (GRCm39)	V253A	probably benign	Het
Or5ac17	C	T	16: 59,036,383 (GRCm39)	V198M	probably benign	Het
Or5b97	G	T	19: 12,878,369 (GRCm39)	F258L	possibly damaging	Het
Or5m11	G	T	2: 85,781,862 (GRCm39)	G152C	probably damaging	Het
Or8d23	A	G	9: 38,841,961 (GRCm39)	S165G	probably benign	Het
Or8k41	T	A	2: 86,313,573 (GRCm39)	H171L	probably benign	Het
Pak1	A	G	7: 97,557,088 (GRCm39)	D495G	probably benign	Het
Pcm1	G	A	8: 41,714,073 (GRCm39)	R213H	probably damaging	Het
Prg4	T	C	1: 150,330,052 (GRCm39)		probably benign	Het
Proser1	C	T	3: 53,385,750 (GRCm39)	T544M	possibly damaging	Het
Rftn1	T	C	17: 50,354,334 (GRCm39)	M343V	probably benign	Het
Ryr1	T	C	7: 28,715,079 (GRCm39)	I4656V	probably benign	Het
Scg2	T	A	1: 79,414,007 (GRCm39)	N239Y	probably damaging	Het
Sec16a	C	A	2: 26,313,512 (GRCm39)	M1949I	probably benign	Het
Sipa1l2	A	G	8: 126,171,223 (GRCm39)		probably null	Het
Slc10a2	A	C	8: 5,148,581 (GRCm39)		probably null	Het
Slc25a16	C	T	10: 62,773,256 (GRCm39)	Q164*	probably null	Het
Specc1l	T	C	10: 75,082,001 (GRCm39)	Y483H	probably damaging	Het
Ston1	T	C	17: 88,943,896 (GRCm39)	V434A	probably benign	Het
Tarbp2	A	G	15: 102,426,914 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,969,925 (GRCm39)	V1022M	probably benign	Het
Tsen54	T	C	11: 115,712,506 (GRCm39)	V269A	probably damaging	Het
Vps13a	A	T	19: 16,641,382 (GRCm39)	M78K	possibly damaging	Het
Vwa5b2	A	G	16: 20,413,429 (GRCm39)	T215A	probably damaging	Het
Zc3h7a	A	G	16: 10,971,025 (GRCm39)	Y335H	probably damaging	Het
Zfp994	T	A	17: 22,419,527 (GRCm39)	Q474L	possibly damaging	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
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
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'- TTCAACTGAATGTATAAATGTGCCT -3'
(R):5'- TTTCTGCTAATCTTTTCAAAGGGG -3'

Sequencing Primer
(F):5'- GGAACTGGAATTTGTGACCCTCC -3'
(R):5'- CTGCTAATCTTTTCAAAGGGGGCAAG -3'

Posted On

2018-05-21