Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02858:Atad5'

362053

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 #

IGL02858

Quality Score

Status

Chromosome

Chromosomal Location

79980226-80026620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79980601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 2 (V2E)

Ref Sequence

ENSEMBL: ENSMUSP00000103874 (fasta)

Gene Model

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

AlphaFold

Q4QY64

Predicted Effect

probably damaging
Transcript: ENSMUST00000017694
AA Change: V2E

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

SMART Domains

Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: V2E

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 damaging
Transcript: ENSMUST00000108239
AA Change: V2E

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

SMART Domains

Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: V2E

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,596,599 (GRCm39)	V126A	probably damaging	Het
Akap9	T	C	5: 4,119,130 (GRCm39)	Y3546H	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arhgap45	C	A	10: 79,853,768 (GRCm39)	T94N	probably benign	Het
Arid1b	T	C	17: 5,392,166 (GRCm39)	S1899P	possibly damaging	Het
Calr	A	T	8: 85,571,528 (GRCm39)	V155E	probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cetn1	T	C	18: 9,619,422 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,618,949 (GRCm39)	L6F	probably damaging	Het
Chrnb1	C	T	11: 69,675,935 (GRCm39)	V436I	possibly damaging	Het
Col4a4	T	C	1: 82,506,204 (GRCm39)	E292G	unknown	Het
Ddx56	A	G	11: 6,217,667 (GRCm39)	L18P	probably damaging	Het
Dhx36	A	C	3: 62,384,797 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,453,358 (GRCm39)	R4376S	possibly damaging	Het
Dnah6	T	A	6: 73,185,582 (GRCm39)	D113V	probably benign	Het
Dnah7a	A	G	1: 53,512,118 (GRCm39)		probably benign	Het
Dock7	T	A	4: 98,833,442 (GRCm39)	K1920*	probably null	Het
Dysf	A	G	6: 84,076,471 (GRCm39)	D628G	probably benign	Het
Exoc3l2	A	G	7: 19,229,109 (GRCm39)	I176V	probably benign	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Fzd4	C	T	7: 89,057,162 (GRCm39)	T403M	probably damaging	Het
Gpr171	A	T	3: 59,005,288 (GRCm39)	N162K	probably benign	Het
Impdh1	T	A	6: 29,206,924 (GRCm39)	K132*	probably null	Het
Itgb2l	A	T	16: 96,223,850 (GRCm39)	W730R	possibly damaging	Het
Jmjd8	T	C	17: 26,049,134 (GRCm39)	F230S	probably damaging	Het
Krt72	G	A	15: 101,690,556 (GRCm39)	T232M	probably damaging	Het
Lpin3	T	C	2: 160,740,540 (GRCm39)		probably benign	Het
Nup214	A	C	2: 31,900,384 (GRCm39)		probably benign	Het
Or11g7	A	T	14: 50,690,507 (GRCm39)		probably benign	Het
Or7d10	A	G	9: 19,831,747 (GRCm39)	M81V	probably damaging	Het
Or8c20	A	G	9: 38,260,469 (GRCm39)	Q24R	probably benign	Het
Or8g26	A	G	9: 39,095,822 (GRCm39)	Y113C	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Sall3	G	T	18: 81,012,728 (GRCm39)	A1236E	probably damaging	Het
Sipa1	T	C	19: 5,705,736 (GRCm39)	T411A	probably damaging	Het
Thsd7a	T	G	6: 12,500,994 (GRCm39)	D471A	probably benign	Het
Tm2d1	T	A	4: 98,263,192 (GRCm39)	E100D	probably damaging	Het
Tmcc1	A	G	6: 116,110,849 (GRCm39)	V148A	probably damaging	Het
Tubgcp6	A	T	15: 88,986,518 (GRCm39)	Y19*	probably null	Het
Ubr3	A	G	2: 69,783,203 (GRCm39)	Y713C	probably damaging	Het
Uevld	A	G	7: 46,605,377 (GRCm39)	V39A	probably benign	Het
Vmn2r28	A	T	7: 5,484,003 (GRCm39)	H732Q	probably damaging	Het
Zfp629	A	T	7: 127,209,484 (GRCm39)	F775Y	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
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

2015-12-18