Mutagenetix > Incidental Mutation

Incidental Mutation 'R1977:Atl2'

221920

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

Arl6ip2, 2010110I21Rik, Aip-2

MMRRC Submission

039990-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80155819-80203552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80160019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 56 (Y56H)

Ref Sequence

ENSEMBL: ENSMUSP00000152866 (fasta)

Gene Model

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

AlphaFold

Q6PA06

Predicted Effect

probably damaging
Transcript: ENSMUST00000068282
AA Change: Y523H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: Y523H

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: Y352H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: Y352H

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 damaging
Transcript: ENSMUST00000222415
AA Change: Y56H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223273

Meta Mutation Damage Score

0.2317

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 123,508,272 (GRCm39)	C256F	probably damaging	Het
Adgra2	T	A	8: 27,605,789 (GRCm39)	V647D	possibly damaging	Het
AI593442	A	T	9: 52,589,492 (GRCm39)	S28R	probably damaging	Het
Akr1c21	G	C	13: 4,624,211 (GRCm39)	G22R	probably damaging	Het
Ampd3	T	C	7: 110,402,369 (GRCm39)	W458R	probably damaging	Het
Arhgap23	G	T	11: 97,342,273 (GRCm39)	R185L	possibly damaging	Het
Arhgap45	A	T	10: 79,856,652 (GRCm39)	I67F	probably damaging	Het
Asah1	A	G	8: 41,796,554 (GRCm39)		probably null	Het
Carf	A	T	1: 60,185,295 (GRCm39)	I447F	probably damaging	Het
Crmp1	A	G	5: 37,433,627 (GRCm39)	N162S	probably damaging	Het
Cyp2a5	A	G	7: 26,535,347 (GRCm39)	E103G	probably benign	Het
Cyp2c40	T	C	19: 39,766,485 (GRCm39)	D370G	probably damaging	Het
Dhrs2	T	A	14: 55,472,112 (GRCm39)	M1K	probably null	Het
Dnah17	T	C	11: 118,003,417 (GRCm39)	E810G	possibly damaging	Het
E2f5	T	A	3: 14,652,416 (GRCm39)	I84N	probably damaging	Het
Eif2ak4	A	T	2: 118,292,238 (GRCm39)	K1185*	probably null	Het
Eif4ebp1	T	A	8: 27,765,129 (GRCm39)	M115K	probably damaging	Het
Evi5	A	T	5: 107,947,005 (GRCm39)	L505*	probably null	Het
Fbxw25	T	A	9: 109,481,924 (GRCm39)	Y254F	possibly damaging	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gps1	A	G	11: 120,676,652 (GRCm39)	T124A	probably damaging	Het
Hopx	T	C	5: 77,265,463 (GRCm39)		probably benign	Het
Hoxd3	A	G	2: 74,574,620 (GRCm39)	S89G	possibly damaging	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Izumo4	A	G	10: 80,538,955 (GRCm39)	Y106C	probably damaging	Het
Lama2	A	T	10: 26,866,796 (GRCm39)		probably null	Het
Lcorl	A	C	5: 45,932,762 (GRCm39)	S123R	probably null	Het
Lgr4	A	T	2: 109,842,273 (GRCm39)	I729F	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Matn3	T	A	12: 9,011,110 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,161,822 (GRCm39)	S912T	probably benign	Het
Mgam	G	A	6: 40,641,814 (GRCm39)	V556I	probably benign	Het
Myom2	A	T	8: 15,135,263 (GRCm39)	I489F	possibly damaging	Het
Nfatc2	G	A	2: 168,346,379 (GRCm39)	T905I	possibly damaging	Het
Nme6	G	A	9: 109,664,409 (GRCm39)	R6Q	probably damaging	Het
Nr1h5	A	G	3: 102,855,133 (GRCm39)	S323P	probably damaging	Het
Nr4a3	C	A	4: 48,056,539 (GRCm39)	R364S	probably damaging	Het
Obox7	A	T	7: 14,398,323 (GRCm39)	D79V	probably damaging	Het
Or1ab2	G	A	8: 72,863,698 (GRCm39)	G96D	probably benign	Het
Or2a51	T	A	6: 43,178,914 (GRCm39)	V112D	possibly damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Parp8	T	A	13: 117,047,449 (GRCm39)	I208F	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Polk	T	C	13: 96,625,736 (GRCm39)	E436G	probably damaging	Het
Pramel7	A	G	2: 87,321,465 (GRCm39)	V190A	probably benign	Het
Rplp2	T	C	7: 141,028,694 (GRCm39)		probably benign	Het
Sec23ip	T	A	7: 128,367,997 (GRCm39)	S670T	probably damaging	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sh2d2a	C	T	3: 87,759,123 (GRCm39)	Q242*	probably null	Het
Sh3pxd2b	A	C	11: 32,372,138 (GRCm39)	N435T	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Stx17	G	A	4: 48,181,553 (GRCm39)	V241M	probably benign	Het
Taok3	A	T	5: 117,403,989 (GRCm39)	K721N	probably damaging	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Tmem87a	G	A	2: 120,204,985 (GRCm39)	A377V	probably benign	Het
Topaz1	C	T	9: 122,576,427 (GRCm39)	T6M	unknown	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Vmn2r125	A	G	4: 156,707,162 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Wdr59	A	T	8: 112,185,270 (GRCm39)	C888S	probably benign	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
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
R7428:Atl2	UTSW	17	80,183,227 (GRCm39)	splice site	probably null
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'- CCAAACCCCATCCTCATGTG -3'
(R):5'- AGCTGAAATCGAAGAAACCTATGC -3'

Sequencing Primer
(F):5'- ACCCCATCCTCATGTGAAAAAG -3'
(R):5'- GCACAATGATGGCAAAAATATCTTC -3'

Posted On

2014-08-25