Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Atad5'

279584

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atad5

Ensembl Gene

ENSMUSG00000017550

Gene Name

ATPase family, AAA domain containing 5

Synonyms

LOC237877, C130052G03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

79980226-80026620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79985533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 207 (S207G)

Ref Sequence

ENSEMBL: ENSMUSP00000103874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017694] [ENSMUST00000108239]

AlphaFold

Q4QY64

Predicted Effect

probably benign
Transcript: ENSMUST00000017694
AA Change: S207G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: S207G

Domain	Start	End	E-Value	Type
low complexity region	298	311	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
coiled coil region	665	697	N/A	INTRINSIC
low complexity region	798	807	N/A	INTRINSIC
AAA	1111	1347	5.14e-5	SMART
Blast:AAA	1409	1526	1e-31	BLAST
low complexity region	1573	1583	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108239
AA Change: S207G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: S207G

Domain	Start	End	E-Value	Type
low complexity region	298	311	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
coiled coil region	665	697	N/A	INTRINSIC
low complexity region	798	807	N/A	INTRINSIC
AAA	1108	1344	5.14e-5	SMART
Blast:AAA	1406	1523	1e-31	BLAST
low complexity region	1570	1580	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for a gene trap allele exhibit genomic instability, premature death, and a wide spectrum of spontaneous tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,583 (GRCm39)	Q794L	probably benign	Het
Acrbp	C	A	6: 125,030,919 (GRCm39)	Y313*	probably null	Het
Adam9	A	G	8: 25,486,745 (GRCm39)	S178P	probably benign	Het
Adgrv1	T	C	13: 81,727,909 (GRCm39)	I244V	possibly damaging	Het
Atp10a	A	G	7: 58,457,141 (GRCm39)	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,309 (GRCm39)	I573T	probably benign	Het
Camsap3	A	G	8: 3,653,845 (GRCm39)	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,232 (GRCm39)	E438G	probably damaging	Het
Cisd2	T	C	3: 135,116,980 (GRCm39)	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,699,157 (GRCm39)	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,761,856 (GRCm39)	G544D	possibly damaging	Het
Dok2	G	T	14: 71,015,301 (GRCm39)	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,359,001 (GRCm39)	N87D	probably damaging	Het
Ehf	T	C	2: 103,097,336 (GRCm39)	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,328,655 (GRCm39)	T569A	probably damaging	Het
Fam151a	T	C	4: 106,605,072 (GRCm39)	V478A	probably damaging	Het
Fam227b	T	A	2: 125,942,924 (GRCm39)	H291L	probably damaging	Het
Fmn2	A	G	1: 174,330,167 (GRCm39)	T186A	unknown	Het
Ggnbp2	T	C	11: 84,723,954 (GRCm39)	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,444,637 (GRCm39)	M318I	probably benign	Het
Gprc5d	A	G	6: 135,093,175 (GRCm39)	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,123,613 (GRCm39)	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,920,892 (GRCm39)	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,557,224 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,497 (GRCm39)	D173G	probably damaging	Het
Lrrc27	C	T	7: 138,810,169 (GRCm39)	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,459,749 (GRCm39)	N125S	probably benign	Het
Mtor	C	T	4: 148,628,998 (GRCm39)	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,322,527 (GRCm39)	R866W	probably damaging	Het
Or10s1	T	A	9: 39,985,967 (GRCm39)	Y125*	probably null	Het
Or4d10b	C	A	19: 12,036,913 (GRCm39)	V68F	probably benign	Het
P2ry6	T	A	7: 100,588,071 (GRCm39)	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,710,605 (GRCm39)	S237T	probably benign	Het
Pck2	G	A	14: 55,779,967 (GRCm39)	R72Q	probably benign	Het
Pik3c2a	C	T	7: 115,945,423 (GRCm39)	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,504,678 (GRCm39)	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,217,832 (GRCm39)	D198E	probably benign	Het
Rasa1	T	A	13: 85,364,274 (GRCm39)	E1022D	probably benign	Het
Rbm25	T	C	12: 83,718,748 (GRCm39)	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,381,696 (GRCm39)	I488K	probably damaging	Het
Ryr2	T	A	13: 11,774,645 (GRCm39)	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,725,656 (GRCm39)	T1198P	probably damaging	Het
Sema3g	C	T	14: 30,949,781 (GRCm39)	T654I	probably benign	Het
Spag9	A	T	11: 93,999,408 (GRCm39)	H1108L	probably damaging	Het
Trgc2	T	A	13: 19,491,580 (GRCm39)		probably benign	Het
Ubap2	T	C	4: 41,229,709 (GRCm39)	N142S	probably benign	Het
Usp33	T	C	3: 152,087,431 (GRCm39)	F699L	possibly damaging	Het
Ythdc2	A	G	18: 45,006,207 (GRCm39)		probably benign	Het

Other mutations in Atad5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Atad5	APN	11	80,023,684 (GRCm39)	missense	probably benign	0.22
IGL00916:Atad5	APN	11	80,009,826 (GRCm39)	missense	probably damaging	1.00
IGL01348:Atad5	APN	11	79,986,390 (GRCm39)	missense	probably benign	0.00
IGL01601:Atad5	APN	11	79,986,343 (GRCm39)	missense	probably benign	0.45
IGL01916:Atad5	APN	11	80,003,665 (GRCm39)	critical splice donor site	probably null
IGL02028:Atad5	APN	11	80,024,936 (GRCm39)	missense	probably benign	0.20
IGL02142:Atad5	APN	11	79,985,023 (GRCm39)	missense	probably benign	0.00
IGL02206:Atad5	APN	11	79,985,009 (GRCm39)	missense	probably damaging	1.00
IGL02385:Atad5	APN	11	79,985,453 (GRCm39)	missense	probably benign	0.04
IGL02858:Atad5	APN	11	79,980,601 (GRCm39)	missense	probably damaging	1.00
IGL02962:Atad5	APN	11	79,999,405 (GRCm39)	missense	possibly damaging	0.86
PIT4362001:Atad5	UTSW	11	80,002,393 (GRCm39)	missense	probably benign	0.04
R0040:Atad5	UTSW	11	79,988,840 (GRCm39)	missense	probably benign
R0157:Atad5	UTSW	11	79,980,643 (GRCm39)	missense	possibly damaging	0.74
R0211:Atad5	UTSW	11	79,986,473 (GRCm39)	missense	probably benign	0.00
R0211:Atad5	UTSW	11	79,986,473 (GRCm39)	missense	probably benign	0.00
R0319:Atad5	UTSW	11	80,011,616 (GRCm39)	splice site	probably benign
R0401:Atad5	UTSW	11	80,011,525 (GRCm39)	missense	probably benign	0.11
R0426:Atad5	UTSW	11	80,003,658 (GRCm39)	missense	probably benign	0.14
R0452:Atad5	UTSW	11	79,997,247 (GRCm39)	missense	probably damaging	0.98
R0496:Atad5	UTSW	11	79,991,182 (GRCm39)	missense	probably benign	0.08
R1691:Atad5	UTSW	11	79,986,358 (GRCm39)	missense	probably benign	0.00
R1812:Atad5	UTSW	11	80,023,873 (GRCm39)	missense	probably damaging	0.98
R2070:Atad5	UTSW	11	79,988,878 (GRCm39)	splice site	probably null
R2071:Atad5	UTSW	11	79,988,878 (GRCm39)	splice site	probably null
R2153:Atad5	UTSW	11	79,997,203 (GRCm39)	missense	probably benign	0.04
R2415:Atad5	UTSW	11	79,985,077 (GRCm39)	missense	probably damaging	1.00
R3917:Atad5	UTSW	11	79,994,120 (GRCm39)	missense	probably null	0.97
R4025:Atad5	UTSW	11	80,011,512 (GRCm39)	missense	probably damaging	1.00
R4464:Atad5	UTSW	11	79,991,137 (GRCm39)	splice site	probably null
R4561:Atad5	UTSW	11	79,986,715 (GRCm39)	missense	probably benign	0.01
R4579:Atad5	UTSW	11	79,986,017 (GRCm39)	missense	probably damaging	1.00
R4844:Atad5	UTSW	11	80,005,137 (GRCm39)	splice site	probably null
R4853:Atad5	UTSW	11	79,986,098 (GRCm39)	missense	probably damaging	1.00
R4873:Atad5	UTSW	11	80,011,515 (GRCm39)	missense	probably damaging	1.00
R4875:Atad5	UTSW	11	80,011,515 (GRCm39)	missense	probably damaging	1.00
R5054:Atad5	UTSW	11	79,985,502 (GRCm39)	missense	probably benign	0.10
R5226:Atad5	UTSW	11	79,985,888 (GRCm39)	missense	probably damaging	0.99
R5397:Atad5	UTSW	11	80,002,319 (GRCm39)	missense	probably damaging	1.00
R5449:Atad5	UTSW	11	80,014,934 (GRCm39)	missense	probably damaging	1.00
R5571:Atad5	UTSW	11	80,002,382 (GRCm39)	missense	probably benign	0.05
R5575:Atad5	UTSW	11	79,991,149 (GRCm39)	missense	probably benign	0.02
R5857:Atad5	UTSW	11	80,022,155 (GRCm39)	missense	probably benign	0.06
R5927:Atad5	UTSW	11	80,018,111 (GRCm39)	missense	probably damaging	1.00
R5928:Atad5	UTSW	11	79,985,003 (GRCm39)	missense	probably damaging	1.00
R5949:Atad5	UTSW	11	79,986,835 (GRCm39)	nonsense	probably null
R6102:Atad5	UTSW	11	80,002,398 (GRCm39)	critical splice donor site	probably null
R6254:Atad5	UTSW	11	80,018,215 (GRCm39)	missense	probably damaging	0.96
R6562:Atad5	UTSW	11	80,024,032 (GRCm39)	missense	probably benign	0.26
R6744:Atad5	UTSW	11	80,024,858 (GRCm39)	missense	probably benign	0.00
R7092:Atad5	UTSW	11	80,011,546 (GRCm39)	missense	possibly damaging	0.68
R7202:Atad5	UTSW	11	79,980,601 (GRCm39)	missense	probably damaging	1.00
R7345:Atad5	UTSW	11	79,986,832 (GRCm39)	missense	probably damaging	1.00
R7352:Atad5	UTSW	11	79,994,169 (GRCm39)	critical splice donor site	probably null
R7358:Atad5	UTSW	11	80,023,862 (GRCm39)	missense	probably benign	0.32
R7420:Atad5	UTSW	11	79,986,688 (GRCm39)	missense	probably benign	0.06
R7453:Atad5	UTSW	11	80,009,969 (GRCm39)	critical splice donor site	probably null
R7990:Atad5	UTSW	11	80,024,079 (GRCm39)	nonsense	probably null
R8012:Atad5	UTSW	11	79,985,066 (GRCm39)	missense	probably damaging	1.00
R8152:Atad5	UTSW	11	79,985,996 (GRCm39)	missense	possibly damaging	0.59
R8421:Atad5	UTSW	11	79,985,384 (GRCm39)	missense	probably damaging	0.98
R8842:Atad5	UTSW	11	80,000,910 (GRCm39)	missense	possibly damaging	0.87
R8918:Atad5	UTSW	11	79,986,473 (GRCm39)	missense	probably benign	0.02
R8943:Atad5	UTSW	11	79,986,524 (GRCm39)	missense	possibly damaging	0.86
R8944:Atad5	UTSW	11	79,986,524 (GRCm39)	missense	possibly damaging	0.86
R9134:Atad5	UTSW	11	80,023,931 (GRCm39)	missense	probably benign	0.00
R9137:Atad5	UTSW	11	79,986,481 (GRCm39)	missense	probably damaging	1.00
R9301:Atad5	UTSW	11	79,986,845 (GRCm39)	missense	probably damaging	1.00
R9372:Atad5	UTSW	11	79,985,094 (GRCm39)	missense	possibly damaging	0.68
R9404:Atad5	UTSW	11	80,005,064 (GRCm39)	missense	probably damaging	1.00
R9443:Atad5	UTSW	11	80,023,388 (GRCm39)	missense	probably benign	0.01
R9471:Atad5	UTSW	11	80,023,524 (GRCm39)	missense	possibly damaging	0.65
R9577:Atad5	UTSW	11	80,004,996 (GRCm39)	missense	probably damaging	1.00
R9656:Atad5	UTSW	11	79,980,542 (GRCm39)	start gained	probably benign
R9659:Atad5	UTSW	11	79,980,542 (GRCm39)	start gained	probably benign
R9661:Atad5	UTSW	11	79,980,542 (GRCm39)	start gained	probably benign
RF003:Atad5	UTSW	11	80,002,386 (GRCm39)	missense	probably damaging	0.99
X0024:Atad5	UTSW	11	80,023,609 (GRCm39)	missense	probably benign	0.02
Z1176:Atad5	UTSW	11	79,985,722 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16