Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00916:Atad5'

28515

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 #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

79980226-80026620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80009826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1199 (P1199S)

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: P1202S

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

SMART Domains

Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: P1202S

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: P1199S

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

SMART Domains

Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: P1199S

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,851 (GRCm39)	Q762L	probably benign	Het
Aldh1a1	T	C	19: 20,597,361 (GRCm39)	V114A	probably benign	Het
Ano4	T	C	10: 88,833,960 (GRCm39)	I459V	probably benign	Het
Bmp10	T	C	6: 87,406,142 (GRCm39)	F43S	possibly damaging	Het
Cd96	T	C	16: 45,861,675 (GRCm39)	E505G	probably benign	Het
Eapp	T	C	12: 54,739,593 (GRCm39)	T75A	possibly damaging	Het
Emilin1	T	C	5: 31,071,246 (GRCm39)	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,284,612 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,113,923 (GRCm39)	I1089V	possibly damaging	Het
H6pd	C	A	4: 150,078,925 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,238,548 (GRCm39)	F544L	probably damaging	Het
Il23r	T	C	6: 67,450,915 (GRCm39)	Y188C	probably damaging	Het
Ilrun	A	G	17: 27,986,893 (GRCm39)	Y278H	probably damaging	Het
Inpp5j	T	C	11: 3,452,389 (GRCm39)	E287G	probably damaging	Het
Lrp6	T	C	6: 134,461,252 (GRCm39)	D735G	probably damaging	Het
Mast2	A	T	4: 116,184,830 (GRCm39)	M240K	possibly damaging	Het
Mreg	T	A	1: 72,203,291 (GRCm39)	T96S	probably benign	Het
Mta2	A	T	19: 8,924,465 (GRCm39)	M220L	probably benign	Het
Mycbp2	A	G	14: 103,528,719 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,297,939 (GRCm39)	N699I	probably damaging	Het
Ncapg	T	G	5: 45,828,534 (GRCm39)	I95S	probably benign	Het
Ndufa13	A	G	8: 70,347,069 (GRCm39)		probably benign	Het
Nol10	T	A	12: 17,411,130 (GRCm39)		probably benign	Het
Parp8	T	A	13: 117,063,859 (GRCm39)	I85F	probably damaging	Het
Rgs2	T	A	1: 143,877,967 (GRCm39)	I78F	probably damaging	Het
Rpia	C	T	6: 70,752,086 (GRCm39)		probably benign	Het
Sec63	T	C	10: 42,688,453 (GRCm39)	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,418,559 (GRCm39)	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,419,983 (GRCm39)	I705R	probably damaging	Het
Ttf1	A	G	2: 28,960,054 (GRCm39)	N554S	probably benign	Het
Ulk1	A	G	5: 110,940,877 (GRCm39)	S351P	probably damaging	Het
Zp2	T	A	7: 119,737,397 (GRCm39)	N264Y	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
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
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

2013-04-17