Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03162:Ak3'

411468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ak3

Ensembl Gene

ENSMUSG00000024782

Gene Name

adenylate kinase 3

Synonyms

AK-3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL03162

Quality Score

Status

Chromosome

Chromosomal Location

28998233-29025361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29000236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 225 (V225D)

Ref Sequence

ENSEMBL: ENSMUSP00000025696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025696] [ENSMUST00000050148] [ENSMUST00000224511]

AlphaFold

Q9WTP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025696
AA Change: V225D

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025696
Gene: ENSMUSG00000024782
AA Change: V225D

Domain	Start	End	E-Value	Type
Pfam:AAA_17	9	172	2.4e-7	PFAM
Pfam:ADK	12	192	2.6e-52	PFAM
Pfam:ADK_lid	128	163	4.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050148

SMART Domains

Protein: ENSMUSP00000060421
Gene: ENSMUSG00000024780

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
low complexity region	21	40	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
CDC37_M	132	288	7.15e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125587

SMART Domains

Protein: ENSMUSP00000121867
Gene: ENSMUSG00000024782

Domain	Start	End	E-Value	Type
Pfam:ADK_lid	5	40	2.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224511

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Acsl3	T	C	1: 78,676,887 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,271,620 (GRCm39)	T596A	probably benign	Het
Adh6a	T	A	3: 138,034,880 (GRCm39)	Y336*	probably null	Het
Aldh1a7	T	A	19: 20,685,645 (GRCm39)	I302F	probably benign	Het
Amdhd1	T	C	10: 93,367,337 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,491,301 (GRCm39)		probably null	Het
Caap1	A	T	4: 94,389,261 (GRCm39)		probably benign	Het
Cdhr4	G	A	9: 107,875,210 (GRCm39)	G70D	probably damaging	Het
Celsr3	T	C	9: 108,719,757 (GRCm39)	F2445S	probably damaging	Het
Cenpc1	A	G	5: 86,185,764 (GRCm39)	V249A	possibly damaging	Het
Clca3a2	C	A	3: 144,512,177 (GRCm39)	V80F	probably damaging	Het
Col6a1	T	A	10: 76,553,885 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,220,117 (GRCm39)	L198Q	probably damaging	Het
Cyp2d40	A	G	15: 82,644,243 (GRCm39)	L294P	unknown	Het
E2f6	T	A	12: 16,868,909 (GRCm39)	D77E	probably benign	Het
Elf5	T	A	2: 103,260,751 (GRCm39)	H38Q	possibly damaging	Het
Entrep1	T	G	19: 23,965,824 (GRCm39)	H225P	probably damaging	Het
Fcrl6	A	G	1: 172,425,820 (GRCm39)	V227A	probably damaging	Het
Fhip2b	G	T	14: 70,824,994 (GRCm39)	D447E	probably damaging	Het
Gabarapl2	T	A	8: 112,669,168 (GRCm39)	V42D	probably benign	Het
Gm3543	A	G	14: 41,802,022 (GRCm39)	I154T	possibly damaging	Het
Gpr150	T	A	13: 76,204,950 (GRCm39)		probably benign	Het
Gstp3	A	G	19: 4,109,255 (GRCm39)		probably benign	Het
Gzmm	C	T	10: 79,528,790 (GRCm39)	T64I	probably damaging	Het
Hs3st1	T	A	5: 39,771,792 (GRCm39)	K284*	probably null	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,131,055 (GRCm39)	I94N	probably damaging	Het
Kif26b	A	G	1: 178,744,497 (GRCm39)	N1531S	probably benign	Het
Kif27	T	C	13: 58,459,021 (GRCm39)	S937G	probably benign	Het
Klhl2	A	G	8: 65,207,426 (GRCm39)	V311A	probably damaging	Het
Klrb1b	T	A	6: 128,795,892 (GRCm39)	Q109L	probably null	Het
Lrig2	A	G	3: 104,371,613 (GRCm39)	F697L	probably damaging	Het
Lrrc66	T	C	5: 73,764,725 (GRCm39)	R773G	probably benign	Het
Mrgpra2b	C	T	7: 47,113,815 (GRCm39)	V306I	probably benign	Het
Nipbl	T	C	15: 8,368,463 (GRCm39)	H1127R	probably benign	Het
Nr3c2	A	T	8: 77,944,213 (GRCm39)	D816V	probably damaging	Het
Ntmt2	T	A	1: 163,530,783 (GRCm39)	I219L	probably damaging	Het
Or10a3	T	C	7: 108,480,811 (GRCm39)	M1V	probably null	Het
Or5w19	A	C	2: 87,698,484 (GRCm39)	M50L	probably benign	Het
Pdxdc1	A	G	16: 13,675,281 (GRCm39)	L350P	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pnpla7	T	C	2: 24,905,301 (GRCm39)		probably benign	Het
Ppan	T	G	9: 20,802,608 (GRCm39)	L283R	probably damaging	Het
Rbfox3	A	C	11: 118,387,257 (GRCm39)	S286A	probably benign	Het
Rbl2	A	G	8: 91,812,330 (GRCm39)	T273A	probably benign	Het
Recql4	G	T	15: 76,590,296 (GRCm39)		probably null	Het
Slc22a26	T	A	19: 7,779,466 (GRCm39)	M117L	probably benign	Het
Sult2a2	T	A	7: 13,468,822 (GRCm39)	I96K	probably damaging	Het
Tcf15	G	A	2: 151,990,626 (GRCm39)	R175H	probably benign	Het
Uggt1	A	T	1: 36,247,037 (GRCm39)	V320D	probably damaging	Het
Vmn2r102	A	G	17: 19,914,286 (GRCm39)	N617S	probably damaging	Het
Vpreb3	A	G	10: 75,785,133 (GRCm39)	Y77C	probably damaging	Het
Zbbx	A	T	3: 74,978,930 (GRCm39)		probably benign	Het
Zfand6	A	T	7: 84,283,185 (GRCm39)	S57R	probably benign	Het
Zmym2	A	G	14: 57,151,500 (GRCm39)	I462V	probably benign	Het

Other mutations in Ak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4243001:Ak3	UTSW	19	29,015,271 (GRCm39)	critical splice donor site	probably null
PIT4469001:Ak3	UTSW	19	29,025,157 (GRCm39)	missense	probably damaging	0.97
R0277:Ak3	UTSW	19	29,025,192 (GRCm39)	missense	possibly damaging	0.80
R0855:Ak3	UTSW	19	29,000,345 (GRCm39)	missense	probably benign
R1747:Ak3	UTSW	19	29,000,261 (GRCm39)	missense	possibly damaging	0.87
R2141:Ak3	UTSW	19	29,000,247 (GRCm39)	missense	probably benign	0.00
R3979:Ak3	UTSW	19	29,025,118 (GRCm39)	missense	probably damaging	1.00
R4839:Ak3	UTSW	19	29,025,132 (GRCm39)	missense	probably damaging	0.99
R6207:Ak3	UTSW	19	29,000,340 (GRCm39)	missense	probably damaging	0.99
R6702:Ak3	UTSW	19	29,003,627 (GRCm39)	missense	probably damaging	1.00
R8897:Ak3	UTSW	19	29,025,118 (GRCm39)	missense	probably damaging	0.98
R8969:Ak3	UTSW	19	29,025,094 (GRCm39)	missense	probably benign
R9573:Ak3	UTSW	19	29,003,667 (GRCm39)	missense	probably benign

Posted On

2016-08-02