Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Atl3'

698558

Institutional Source

Beutler Lab

Gene Symbol

Atl3

Ensembl Gene

ENSMUSG00000024759

Gene Name

atlastin GTPase 3

Synonyms

5730596K20Rik, 4633402C03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7471178-7515974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7487447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 121 (I121V)

Ref Sequence

ENSEMBL: ENSMUSP00000025668 (fasta)

Gene Model

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

AlphaFold

Q91YH5

Predicted Effect

probably benign
Transcript: ENSMUST00000025668
AA Change: I121V

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: I121V

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: I116V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: I116V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,820,330 (GRCm39)	D248G	probably benign	Het
Abcc5	C	A	16: 20,208,139 (GRCm39)	V605F	probably benign	Het
Als2	A	G	1: 59,224,406 (GRCm39)	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Apex1	T	G	14: 51,163,125 (GRCm39)	D69E	possibly damaging	Het
Atg13	A	T	2: 91,512,406 (GRCm39)	F288I	probably benign	Het
Atoh1	A	G	6: 64,706,713 (GRCm39)	E136G	probably benign	Het
Ccr7	T	C	11: 99,039,895 (GRCm39)	N9S	probably benign	Het
Cdhr1	A	C	14: 36,802,505 (GRCm39)	W653G	probably damaging	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Crnn	A	C	3: 93,054,251 (GRCm39)	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,589,583 (GRCm39)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,943,932 (GRCm39)	I443V	probably benign	Het
Dnah7a	G	T	1: 53,540,757 (GRCm39)	T2539N	probably benign	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fat4	G	C	3: 39,063,390 (GRCm39)	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,015,191 (GRCm39)	L964S	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm973	A	T	1: 59,591,585 (GRCm39)	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Iars2	A	T	1: 185,050,146 (GRCm39)	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,607,947 (GRCm39)	S545P	probably damaging	Het
Kif1a	G	T	1: 92,979,202 (GRCm39)	D928E	probably damaging	Het
Kif26a	C	T	12: 112,144,480 (GRCm39)	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,079,227 (GRCm39)		probably null	Het
Klhl31	T	A	9: 77,558,389 (GRCm39)	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,126,197 (GRCm39)	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,022,350 (GRCm39)	C924S	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,257,656 (GRCm39)	L425M	possibly damaging	Het
Nop9	T	A	14: 55,987,592 (GRCm39)		probably null	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,874,793 (GRCm39)	M1I	probably null	Het
Or4f61	A	G	2: 111,922,410 (GRCm39)	F212S	probably benign	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,447,163 (GRCm39)	Y469*	probably null	Het
Rbm33	A	G	5: 28,557,584 (GRCm39)	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Rcor3	A	T	1: 191,785,895 (GRCm39)	*448R	probably null	Het
Scn10a	T	C	9: 119,445,827 (GRCm39)	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,548,131 (GRCm39)	I1108F	probably damaging	Het
Scrn2	T	C	11: 96,922,962 (GRCm39)	I135T	probably damaging	Het
Sptan1	A	T	2: 29,920,724 (GRCm39)	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,825,442 (GRCm39)	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Tor4a	A	T	2: 25,084,975 (GRCm39)	N309K	probably damaging	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Tvp23b	T	C	11: 62,772,842 (GRCm39)	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,467,032 (GRCm39)	I156F	probably damaging	Het
Wnk4	T	C	11: 101,164,882 (GRCm39)	I737T	probably damaging	Het
Zfp329	A	T	7: 12,545,085 (GRCm39)	D146E	probably benign	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp804b	T	C	5: 6,822,154 (GRCm39)	N303S	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
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
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'- TGCTGCGATACTTATATTCTCAGG -3'
(R):5'- CAGGCTTCGTCATGTGACTCC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- AGCCTAGTGTTACCTACCGAG -3'

Posted On

2022-02-07