Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:Atad5'

365402

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 #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

79980226-80026620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79999405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 895 (V895D)

Ref Sequence

ENSEMBL: ENSMUSP00000103874 (fasta)

Gene Model

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

AlphaFold

Q4QY64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017694
AA Change: V895D

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: V895D

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

possibly damaging
Transcript: ENSMUST00000108239
AA Change: V895D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: V895D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154168

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,446,455 (GRCm39)		probably null	Het
9530068E07Rik	T	C	11: 52,294,362 (GRCm39)	V209A	possibly damaging	Het
Abca3	T	A	17: 24,619,383 (GRCm39)	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,033,382 (GRCm39)	Y90H	probably benign	Het
Aff3	T	C	1: 38,574,737 (GRCm39)	D81G	probably damaging	Het
Amn	G	T	12: 111,240,951 (GRCm39)	V152L	probably damaging	Het
Arhgap44	A	G	11: 64,957,987 (GRCm39)		probably benign	Het
Card9	T	G	2: 26,248,029 (GRCm39)		probably null	Het
Ccer1	T	C	10: 97,529,702 (GRCm39)	S122P	unknown	Het
Ccr2	A	G	9: 123,905,712 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,473,381 (GRCm39)	I818N	possibly damaging	Het
Ear10	G	T	14: 44,160,774 (GRCm39)	L18I	probably damaging	Het
Mertk	A	G	2: 128,619,374 (GRCm39)	Y544C	probably damaging	Het
Miga1	A	T	3: 151,990,978 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,669,061 (GRCm39)	V307A	probably damaging	Het
Or5p64	A	T	7: 107,854,910 (GRCm39)	I145N	possibly damaging	Het
Or7a38	T	A	10: 78,752,773 (GRCm39)	L33H	probably damaging	Het
Pou2f3	T	C	9: 43,036,384 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,423,910 (GRCm39)	E293V	probably benign	Het
Prickle2	A	C	6: 92,353,403 (GRCm39)	S744A	probably benign	Het
Prkcb	T	A	7: 122,024,270 (GRCm39)		probably null	Het
Prkd2	A	G	7: 16,603,757 (GRCm39)	T813A	probably benign	Het
Prkra	G	A	2: 76,463,891 (GRCm39)	T257M	probably damaging	Het
Rbm18	C	T	2: 36,012,886 (GRCm39)	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,167,307 (GRCm39)	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,996,990 (GRCm39)	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,775,928 (GRCm39)	K613I	probably damaging	Het
Serbp1	G	A	6: 67,244,103 (GRCm39)	G8D	probably damaging	Het
Slc6a2	T	A	8: 93,699,390 (GRCm39)	Y139*	probably null	Het
Slc7a2	T	A	8: 41,358,621 (GRCm39)	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,594,279 (GRCm39)	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,790,490 (GRCm39)	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,512,512 (GRCm39)		probably benign	Het
Taar5	C	A	10: 23,846,883 (GRCm39)	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181 (GRCm39)	A353S	probably benign	Het
Trav1	A	G	14: 52,666,099 (GRCm39)	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,259,160 (GRCm39)	V71A	probably benign	Het
Vmn2r50	T	C	7: 9,784,252 (GRCm39)	Y74C	probably damaging	Het
Wars1	A	T	12: 108,841,706 (GRCm39)	M147K	probably damaging	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
IGL02095:Atad5	APN	11	79,985,533 (GRCm39)	missense	probably benign	0.24
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
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

2015-12-18