Mutagenetix > Incidental Mutation

Incidental Mutation 'R8057:Ak4'

619433

Institutional Source

Beutler Lab

Gene Symbol

Ak4

Ensembl Gene

ENSMUSG00000028527

Gene Name

adenylate kinase 4

Synonyms

D4Ertd274e, Ak-4, Ak3l1, Ak-3

MMRRC Submission

067494-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R8057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101276474-101324192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101317850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 140 (F140S)

Ref Sequence

ENSEMBL: ENSMUSP00000102558 (fasta)

Gene Model

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

AlphaFold

Q9WUR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102780
AA Change: F140S

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

SMART Domains

Protein: ENSMUSP00000099841
Gene: ENSMUSG00000028527
AA Change: F140S

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: F140S

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

SMART Domains

Protein: ENSMUSP00000102558
Gene: ENSMUSG00000028527
AA Change: F140S

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: F140S

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

SMART Domains

Protein: ENSMUSP00000102559
Gene: ENSMUSG00000028527
AA Change: F140S

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 benign
Transcript: ENSMUST00000131397

SMART Domains

Protein: ENSMUSP00000115456
Gene: ENSMUSG00000028527

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

possibly damaging
Transcript: ENSMUST00000133055
AA Change: F100S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115454
Gene: ENSMUSG00000028527
AA Change: F100S

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

SMART Domains

Protein: ENSMUSP00000121112
Gene: ENSMUSG00000028527
AA Change: F70S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,826 (GRCm39)	L32P	probably damaging	Het
4930563M21Rik	T	C	9: 55,916,564 (GRCm39)	T38A	unknown	Het
Abcb6	T	C	1: 75,151,002 (GRCm39)	N563D	probably damaging	Het
Arhgap27	T	A	11: 103,229,519 (GRCm39)	R296S	probably damaging	Het
Atxn7l1	A	C	12: 33,376,001 (GRCm39)	K98N	probably damaging	Het
Bex6	G	T	16: 32,005,224 (GRCm39)	D11Y	probably damaging	Het
Camta1	T	C	4: 151,228,489 (GRCm39)	D781G	probably damaging	Het
Capn7	A	G	14: 31,092,936 (GRCm39)	D800G	probably benign	Het
Carmil2	G	A	8: 106,419,008 (GRCm39)	V716I	probably benign	Het
Cdk5	C	A	5: 24,625,782 (GRCm39)	D144Y	probably damaging	Het
Cep85	T	C	4: 133,880,925 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,450,829 (GRCm39)	L651Q	probably damaging	Het
Cimap1d	T	A	10: 79,475,835 (GRCm39)	H243L	probably damaging	Het
Clcn7	C	T	17: 25,368,233 (GRCm39)	Q261*	probably null	Het
Cntnap2	T	A	6: 46,324,079 (GRCm39)	F576Y	probably damaging	Het
Col11a1	G	A	3: 113,925,263 (GRCm39)	G815D	unknown	Het
Col4a4	T	A	1: 82,501,591 (GRCm39)	R387S	unknown	Het
Cse1l	T	A	2: 166,781,845 (GRCm39)	V663D	probably damaging	Het
Csf2rb2	G	T	15: 78,169,206 (GRCm39)	Q650K	probably damaging	Het
Ctnnd2	A	G	15: 30,847,497 (GRCm39)	D696G	possibly damaging	Het
Dnah7c	T	A	1: 46,728,112 (GRCm39)	C2937S	possibly damaging	Het
Epha10	A	T	4: 124,796,476 (GRCm39)	Q395L		Het
Fam167a	T	A	14: 63,689,769 (GRCm39)	V22E	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gabra4	A	G	5: 71,781,295 (GRCm39)	I372T	probably benign	Het
Gpt	A	G	15: 76,580,972 (GRCm39)		probably benign	Het
H2-K2	C	T	17: 34,215,833 (GRCm39)	G336D	possibly damaging	Het
Hapstr1	C	T	16: 8,648,232 (GRCm39)		probably benign	Het
Hoxd8	T	C	2: 74,535,070 (GRCm39)		probably null	Het
Ilrun	C	T	17: 27,986,863 (GRCm39)	A288T	unknown	Het
Kdm5d	T	G	Y: 927,355 (GRCm39)	D658E	possibly damaging	Het
Krt25	G	A	11: 99,208,169 (GRCm39)	T353M	probably benign	Het
Lonp2	T	C	8: 87,440,717 (GRCm39)	L778P	probably damaging	Het
Lrrc66	G	A	5: 73,764,875 (GRCm39)	Q723*	probably null	Het
Mak	T	A	13: 41,202,813 (GRCm39)	I212F	probably damaging	Het
Mastl	T	A	2: 23,023,566 (GRCm39)	R386W	possibly damaging	Het
Mis18bp1	A	G	12: 65,195,673 (GRCm39)	I697T	possibly damaging	Het
Nek5	G	A	8: 22,578,922 (GRCm39)	T415I	probably benign	Het
Neu3	T	A	7: 99,463,435 (GRCm39)	N96I	probably benign	Het
Nxph2	T	C	2: 23,290,107 (GRCm39)	V153A	possibly damaging	Het
Or10a3	A	T	7: 108,480,571 (GRCm39)	F81I	probably damaging	Het
Or5b102	G	A	19: 13,040,638 (GRCm39)		probably benign	Het
Or8b4	A	G	9: 37,830,460 (GRCm39)	D169G	probably benign	Het
Otogl	T	C	10: 107,644,476 (GRCm39)	T1257A	probably benign	Het
Pcdh10	G	A	3: 45,333,694 (GRCm39)	V3M	probably benign	Het
Pitpnm1	G	A	19: 4,162,145 (GRCm39)	R1017Q	probably null	Het
Plcb3	A	C	19: 6,932,463 (GRCm39)	H1065Q	probably benign	Het
Plcb3	A	T	19: 6,936,267 (GRCm39)	M752K	probably damaging	Het
Plch1	T	C	3: 63,605,557 (GRCm39)	E1449G	probably benign	Het
Plekha4	T	A	7: 45,198,695 (GRCm39)	C573S	probably benign	Het
Plin2	T	C	4: 86,575,638 (GRCm39)	I304V	possibly damaging	Het
Pnp2	G	A	14: 51,201,838 (GRCm39)	V275I	probably benign	Het
Polr1a	G	A	6: 71,908,644 (GRCm39)	A490T	possibly damaging	Het
Ppp1r12b	A	G	1: 134,883,354 (GRCm39)	F56S	probably damaging	Het
Ptk2	GA	G	15: 73,170,048 (GRCm39)		probably null	Het
Rb1cc1	C	A	1: 6,315,443 (GRCm39)	R473S	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rdx	T	C	9: 51,976,946 (GRCm39)	V65A	probably damaging	Het
Rpl27rt	T	C	18: 34,870,582 (GRCm39)	F39L	probably damaging	Het
Rps6ka5	A	G	12: 100,540,055 (GRCm39)		probably null	Het
Samd5	C	T	10: 9,550,641 (GRCm39)	V23M	probably damaging	Het
Scn9a	T	G	2: 66,345,774 (GRCm39)	R1117S	probably benign	Het
Scrn1	T	A	6: 54,497,758 (GRCm39)	I278L	probably benign	Het
Sec31b	G	T	19: 44,507,804 (GRCm39)	P747T	probably damaging	Het
Sipa1l2	A	T	8: 126,195,269 (GRCm39)	V823E	probably damaging	Het
Slc2a13	T	C	15: 91,400,619 (GRCm39)	N201S	probably damaging	Het
Slc30a3	C	A	5: 31,247,395 (GRCm39)		probably benign	Het
Snx31	C	A	15: 36,523,606 (GRCm39)	V359F	probably damaging	Het
Sstr2	A	G	11: 113,515,099 (GRCm39)	E6G	probably benign	Het
Stc2	C	A	11: 31,317,806 (GRCm39)	E72*	probably null	Het
Tead1	C	T	7: 112,358,721 (GRCm39)	P11L	probably benign	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tmem63c	A	T	12: 87,118,972 (GRCm39)	K301*	probably null	Het
Tns3	G	C	11: 8,442,773 (GRCm39)	A530G	probably benign	Het
Trat1	T	C	16: 48,562,600 (GRCm39)	D70G	probably damaging	Het
Trex1	T	A	9: 108,887,397 (GRCm39)	E198V	probably damaging	Het
Ttn	T	G	2: 76,570,072 (GRCm39)	R26940S	probably damaging	Het
Uba2	T	C	7: 33,867,835 (GRCm39)	K34R	possibly damaging	Het
Vps13d	A	C	4: 144,701,753 (GRCm39)	M4376R		Het
Zfp157	C	A	5: 138,454,336 (GRCm39)	T178K	probably damaging	Het
Zfp318	T	A	17: 46,710,692 (GRCm39)	V805D	possibly damaging	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
R5423:Ak4	UTSW	4	101,317,760 (GRCm39)	missense	probably damaging	1.00
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
R8314:Ak4	UTSW	4	101,320,782 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TACAGAGGTAGTTACAGAGTCCC -3'
(R):5'- AGCAATGCCCTGTCTTGTTAAG -3'

Sequencing Primer
(F):5'- CAGAGTCCCTATTAAATCCTTTTGG -3'
(R):5'- GTCTTGTTAAGCTTTCTAGTCCTAGC -3'

Posted On

2020-01-23