Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Ak4'

426692

Institutional Source

Beutler Lab

Gene Symbol

Ak4

Ensembl Gene

ENSMUSG00000028527

Gene Name

adenylate kinase 4

Synonyms

D4Ertd274e, Ak-4, Ak3l1, Ak-3

MMRRC Submission

042989-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101276474-101324192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101317760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 110 (I110S)

Ref Sequence

ENSEMBL: ENSMUSP00000115456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102780] [ENSMUST00000106945] [ENSMUST00000106946] [ENSMUST00000131397] [ENSMUST00000133055]

AlphaFold

Q9WUR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102780
AA Change: I110S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099841
Gene: ENSMUSG00000028527
AA Change: I110S

Domain	Start	End	E-Value	Type
Pfam:AAA_17	7	193	3.2e-12	PFAM
Pfam:AAA_18	9	133	8.7e-11	PFAM
Pfam:ADK	10	190	2e-50	PFAM
Pfam:ADK_lid	126	161	3.3e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106945
AA Change: I110S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102558
Gene: ENSMUSG00000028527
AA Change: I110S

Domain	Start	End	E-Value	Type
Pfam:AAA_17	7	193	3.2e-12	PFAM
Pfam:AAA_18	9	133	8.7e-11	PFAM
Pfam:ADK	10	190	2e-50	PFAM
Pfam:ADK_lid	126	161	3.3e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106946
AA Change: I110S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102559
Gene: ENSMUSG00000028527
AA Change: I110S

Domain	Start	End	E-Value	Type
Pfam:AAA_17	7	179	1.1e-7	PFAM
Pfam:Cytidylate_kin	8	55	3.5e-7	PFAM
Pfam:AAA_18	9	134	4.5e-11	PFAM
Pfam:ADK	10	190	1.8e-50	PFAM
Pfam:ADK_lid	126	161	1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131397
AA Change: I110S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115456
Gene: ENSMUSG00000028527
AA Change: I110S

Domain	Start	End	E-Value	Type
Pfam:AAA_17	7	115	1.1e-11	PFAM
Pfam:AAA_18	9	115	3.6e-8	PFAM
Pfam:ADK	10	115	1.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133055
AA Change: I70S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115454
Gene: ENSMUSG00000028527
AA Change: I70S

Domain	Start	End	E-Value	Type
Pfam:AAA_17	7	111	2.2e-10	PFAM
Pfam:ADK	10	48	2.9e-16	PFAM
Pfam:ADK	47	122	5.8e-9	PFAM
Pfam:ADK_lid	86	121	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151561

Predicted Effect

unknown
Transcript: ENSMUST00000155749
AA Change: I40S

SMART Domains

Protein: ENSMUSP00000121112
Gene: ENSMUSG00000028527
AA Change: I40S

Domain	Start	End	E-Value	Type
Pfam:ADK	1	108	2.1e-20	PFAM
Pfam:ADK_lid	57	82	9.3e-6	PFAM

Meta Mutation Damage Score

0.9199

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	Het

Other mutations in Ak4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Ak4	APN	4	101,304,386 (GRCm39)	nonsense	probably null
IGL03077:Ak4	APN	4	101,277,148 (GRCm39)	missense	probably damaging	0.98
R1903:Ak4	UTSW	4	101,320,833 (GRCm39)	missense	possibly damaging	0.47
R6309:Ak4	UTSW	4	101,320,859 (GRCm39)	missense	probably benign
R6936:Ak4	UTSW	4	101,304,456 (GRCm39)	missense	probably benign	0.00
R7571:Ak4	UTSW	4	101,317,739 (GRCm39)	missense	probably benign	0.32
R8057:Ak4	UTSW	4	101,317,850 (GRCm39)	missense	probably damaging	1.00
R8314:Ak4	UTSW	4	101,320,782 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TTAGACCAAGCATAGAAGCTGG -3'
(R):5'- TCCTATGCTGTTTGGCCAATG -3'

Sequencing Primer
(F):5'- AGCTGGGCTATAAAAGAGTATACAG -3'
(R):5'- TCTTACCTGCACTTGAGG -3'

Posted On

2016-09-01