Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Atl2'

512877

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

2010110I21Rik, Aip-2, Arl6ip2

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79848390-79896123 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79854555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 205 (Q205R)

Ref Sequence

ENSEMBL: ENSMUSP00000108056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193] [ENSMUST00000222415]

AlphaFold

Q6PA06

Predicted Effect

probably damaging
Transcript: ENSMUST00000068282
AA Change: Q376R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: Q376R

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
Pfam:GBP	70	341	3.9e-105	PFAM
low complexity region	377	390	N/A	INTRINSIC
Blast:HAMP	495	545	4e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000112437
AA Change: Q205R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: Q205R

Domain	Start	End	E-Value	Type
Pfam:GBP	1	170	6.6e-69	PFAM
Pfam:GBP_C	172	302	2.7e-8	PFAM
Blast:HAMP	324	374	3e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221666

Predicted Effect

probably benign
Transcript: ENSMUST00000222193

Predicted Effect

probably benign
Transcript: ENSMUST00000222415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223273

Meta Mutation Damage Score

0.1505

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343 (GRCm38)	R571*	probably null	Het
Asb18	A	T	1: 90,014,471 (GRCm38)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985 (GRCm38)	G779S	probably damaging	Het
Axdnd1	A	G	1: 156,392,745 (GRCm38)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701 (GRCm38)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485 (GRCm38)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176 (GRCm38)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984 (GRCm38)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555 (GRCm38)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462 (GRCm38)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004 (GRCm38)		probably benign	Het
Ctnna2	A	G	6: 76,980,695 (GRCm38)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568 (GRCm38)		probably null	Het
Ero1l	T	C	14: 45,299,958 (GRCm38)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331 (GRCm38)	M344T	unknown	Het
Frem1	A	T	4: 82,913,792 (GRCm38)		probably null	Het
Gjb5	G	T	4: 127,355,930 (GRCm38)	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555 (GRCm38)	R100C	unknown	Het
Hk2	G	T	6: 82,736,753 (GRCm38)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601 (GRCm38)	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660 (GRCm38)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694 (GRCm38)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562 (GRCm38)	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559 (GRCm38)	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187 (GRCm38)	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076 (GRCm38)	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222 (GRCm38)	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496 (GRCm38)	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028 (GRCm38)	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734 (GRCm38)		probably null	Het
Pnpla1	T	A	17: 28,878,481 (GRCm38)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542 (GRCm38)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412 (GRCm38)		probably null	Het
Rad52	A	G	6: 119,914,207 (GRCm38)	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189 (GRCm38)		probably null	Het
Rasgrf2	T	C	13: 92,131,446 (GRCm38)	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313 (GRCm38)	M411T	unknown	Het
Reln	A	G	5: 22,051,361 (GRCm38)	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942 (GRCm38)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702 (GRCm38)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962 (GRCm38)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753 (GRCm38)	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293 (GRCm38)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370 (GRCm38)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984 (GRCm38)	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604 (GRCm38)	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590 (GRCm38)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm38)	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743 (GRCm38)	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285 (GRCm38)		probably null	Het
Uox	C	T	3: 146,624,577 (GRCm38)	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602 (GRCm38)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444 (GRCm38)	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897 (GRCm38)	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968 (GRCm38)	R189H	possibly damaging	Homo

Other mutations in Atl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Atl2	APN	17	79,859,785 (GRCm38)	critical splice donor site	probably null
IGL02692:Atl2	APN	17	79,865,053 (GRCm38)	missense	probably benign
IGL03127:Atl2	APN	17	79,852,854 (GRCm38)	missense	probably damaging	0.99
IGL03377:Atl2	APN	17	79,865,090 (GRCm38)	missense	probably damaging	1.00
R0164:Atl2	UTSW	17	79,853,831 (GRCm38)	unclassified	probably benign
R1203:Atl2	UTSW	17	79,852,905 (GRCm38)	missense	probably damaging	0.99
R1489:Atl2	UTSW	17	79,852,706 (GRCm38)	missense	probably benign	0.00
R1663:Atl2	UTSW	17	79,864,711 (GRCm38)	missense	probably damaging	1.00
R1977:Atl2	UTSW	17	79,852,590 (GRCm38)	missense	probably damaging	1.00
R2032:Atl2	UTSW	17	79,895,944 (GRCm38)	missense	probably benign
R4063:Atl2	UTSW	17	79,850,159 (GRCm38)	makesense	probably null
R5104:Atl2	UTSW	17	79,852,617 (GRCm38)	missense	probably benign	0.01
R5201:Atl2	UTSW	17	79,865,151 (GRCm38)	missense	probably benign
R5362:Atl2	UTSW	17	79,861,461 (GRCm38)	missense	probably damaging	1.00
R5387:Atl2	UTSW	17	79,852,800 (GRCm38)	missense	probably benign	0.03
R6128:Atl2	UTSW	17	79,865,041 (GRCm38)	critical splice donor site	probably null
R6416:Atl2	UTSW	17	79,850,223 (GRCm38)	missense	probably benign	0.00
R6597:Atl2	UTSW	17	79,852,766 (GRCm38)	missense	possibly damaging	0.68
R6885:Atl2	UTSW	17	79,852,553 (GRCm38)	missense	probably damaging	1.00
R7428:Atl2	UTSW	17	79,875,798 (GRCm38)	splice site	probably null
R7587:Atl2	UTSW	17	79,865,067 (GRCm38)	missense	probably benign	0.25
R7646:Atl2	UTSW	17	79,854,607 (GRCm38)	missense	probably damaging	1.00
R7781:Atl2	UTSW	17	79,859,831 (GRCm38)	missense	probably damaging	1.00
R7949:Atl2	UTSW	17	79,859,860 (GRCm38)	missense	probably damaging	1.00
R8170:Atl2	UTSW	17	79,856,261 (GRCm38)	missense	possibly damaging	0.95
R8313:Atl2	UTSW	17	79,852,604 (GRCm38)	nonsense	probably null
R8878:Atl2	UTSW	17	79,852,803 (GRCm38)	missense	probably benign	0.05
R8899:Atl2	UTSW	17	79,876,040 (GRCm38)	missense	probably benign	0.01
R9335:Atl2	UTSW	17	79,852,778 (GRCm38)	missense	probably benign	0.00
X0052:Atl2	UTSW	17	79,852,617 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGAGGAATTGCCCAAAGTGG -3'
(R):5'- TGAGTTTTAAGGCCTAGAACTTCG -3'

Sequencing Primer
(F):5'- ATCCAGAGGCAGCTTGTTAC -3'
(R):5'- AAGGCCTAGAACTTCGTTTTTG -3'

Posted On

2018-04-27