Mutagenetix > Incidental Mutation

Incidental Mutation 'R7428:Atl2'

605508

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

Arl6ip2, 2010110I21Rik, Aip-2

MMRRC Submission

045506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80155819-80203552 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 80183227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064758 (fasta)

Gene Model

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

AlphaFold

Q6PA06

Predicted Effect

probably null
Transcript: ENSMUST00000068282

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811

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 benign
Transcript: ENSMUST00000112437

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811

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

probably benign
Transcript: ENSMUST00000222193

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,543 (GRCm39)	Y63F	probably benign	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Cep295	A	G	9: 15,244,794 (GRCm39)	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,770,365 (GRCm39)	S1842G	probably benign	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Creb5	C	A	6: 53,658,143 (GRCm39)	Q158K	unknown	Het
Crtam	G	C	9: 40,892,478 (GRCm39)	A266G	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Ddit4l	A	G	3: 137,331,931 (GRCm39)	E99G	probably damaging	Het
Dmbt1	A	T	7: 130,710,192 (GRCm39)	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Leng8	C	T	7: 4,146,572 (GRCm39)	R395W	probably damaging	Het
Mocs2	A	G	13: 114,957,400 (GRCm39)	I6V	probably benign	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Myh13	A	G	11: 67,223,390 (GRCm39)	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup205	T	A	6: 35,204,494 (GRCm39)	I1460N	probably damaging	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Otof	G	T	5: 30,547,169 (GRCm39)	D383E	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pclo	A	T	5: 14,800,531 (GRCm39)	I1179F		Het
Pde6c	T	C	19: 38,145,984 (GRCm39)		probably null	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Prkg1	T	C	19: 30,556,235 (GRCm39)	I585M	probably damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Ptprd	G	A	4: 76,004,705 (GRCm39)	P17S	probably benign	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Sap30	C	T	8: 57,940,546 (GRCm39)	V19M	possibly damaging	Het
Scrib	G	A	15: 75,933,047 (GRCm39)	T721M	probably damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco4c1	T	C	1: 96,765,245 (GRCm39)	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Taar8c	A	C	10: 23,977,446 (GRCm39)	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965 (GRCm39)	P24S	probably benign	Het
Tex36	T	C	7: 133,196,866 (GRCm39)		probably null	Het
Tmem145	T	C	7: 25,006,590 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Vars2	A	T	17: 35,977,578 (GRCm39)	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,463,022 (GRCm39)	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wnt9b	T	C	11: 103,621,643 (GRCm39)	Q338R	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Zfp541	A	T	7: 15,826,793 (GRCm39)	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,354,760 (GRCm39)	G190S	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably damaging	Het

Other mutations in Atl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Atl2	APN	17	80,167,214 (GRCm39)	critical splice donor site	probably null
IGL02692:Atl2	APN	17	80,172,482 (GRCm39)	missense	probably benign
IGL03127:Atl2	APN	17	80,160,283 (GRCm39)	missense	probably damaging	0.99
IGL03377:Atl2	APN	17	80,172,519 (GRCm39)	missense	probably damaging	1.00
R0164:Atl2	UTSW	17	80,161,260 (GRCm39)	unclassified	probably benign
R1203:Atl2	UTSW	17	80,160,334 (GRCm39)	missense	probably damaging	0.99
R1489:Atl2	UTSW	17	80,160,135 (GRCm39)	missense	probably benign	0.00
R1663:Atl2	UTSW	17	80,172,140 (GRCm39)	missense	probably damaging	1.00
R1977:Atl2	UTSW	17	80,160,019 (GRCm39)	missense	probably damaging	1.00
R2032:Atl2	UTSW	17	80,203,373 (GRCm39)	missense	probably benign
R4063:Atl2	UTSW	17	80,157,588 (GRCm39)	makesense	probably null
R5104:Atl2	UTSW	17	80,160,046 (GRCm39)	missense	probably benign	0.01
R5201:Atl2	UTSW	17	80,172,580 (GRCm39)	missense	probably benign
R5362:Atl2	UTSW	17	80,168,890 (GRCm39)	missense	probably damaging	1.00
R5387:Atl2	UTSW	17	80,160,229 (GRCm39)	missense	probably benign	0.03
R6128:Atl2	UTSW	17	80,172,470 (GRCm39)	critical splice donor site	probably null
R6369:Atl2	UTSW	17	80,161,984 (GRCm39)	missense	probably damaging	0.96
R6416:Atl2	UTSW	17	80,157,652 (GRCm39)	missense	probably benign	0.00
R6597:Atl2	UTSW	17	80,160,195 (GRCm39)	missense	possibly damaging	0.68
R6885:Atl2	UTSW	17	80,159,982 (GRCm39)	missense	probably damaging	1.00
R7587:Atl2	UTSW	17	80,172,496 (GRCm39)	missense	probably benign	0.25
R7646:Atl2	UTSW	17	80,162,036 (GRCm39)	missense	probably damaging	1.00
R7781:Atl2	UTSW	17	80,167,260 (GRCm39)	missense	probably damaging	1.00
R7949:Atl2	UTSW	17	80,167,289 (GRCm39)	missense	probably damaging	1.00
R8170:Atl2	UTSW	17	80,163,690 (GRCm39)	missense	possibly damaging	0.95
R8313:Atl2	UTSW	17	80,160,033 (GRCm39)	nonsense	probably null
R8878:Atl2	UTSW	17	80,160,232 (GRCm39)	missense	probably benign	0.05
R8899:Atl2	UTSW	17	80,183,469 (GRCm39)	missense	probably benign	0.01
R9335:Atl2	UTSW	17	80,160,207 (GRCm39)	missense	probably benign	0.00
X0052:Atl2	UTSW	17	80,160,046 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTCACTCAGCCTAAATGGGAATAG -3'
(R):5'- GTTCTCGCCCATGAAGATGACC -3'

Sequencing Primer
(F):5'- TAACAAAGAGGGATGTGTATGTGTG -3'
(R):5'- GCCCATGAAGATGACCATAACTTTG -3'

Posted On

2019-12-09