Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Ak1'

671596

Institutional Source

Beutler Lab

Gene Symbol

Ak1

Ensembl Gene

ENSMUSG00000026817

Gene Name

adenylate kinase 1

Synonyms

B430205N08Rik, Ak-1

MMRRC Submission

068640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32511770-32525070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32523490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 186 (V186A)

Ref Sequence

ENSEMBL: ENSMUSP00000068479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068271] [ENSMUST00000113277] [ENSMUST00000113278] [ENSMUST00000156578] [ENSMUST00000195721]

AlphaFold

Q9R0Y5

Predicted Effect

probably benign
Transcript: ENSMUST00000068271
AA Change: V186A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817
AA Change: V186A

Domain	Start	End	E-Value	Type
Pfam:AAA_33	26	173	2.7e-10	PFAM
Pfam:AAA_17	26	194	5.4e-8	PFAM
Pfam:ADK	29	185	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113277
AA Change: V170A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817
AA Change: V170A

Domain	Start	End	E-Value	Type
Pfam:AAA_33	10	159	2.7e-10	PFAM
Pfam:AAA_17	10	171	5.4e-11	PFAM
Pfam:AAA_18	11	149	7.6e-8	PFAM
Pfam:ADK	13	169	7.5e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113278
AA Change: V170A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817
AA Change: V170A

Domain	Start	End	E-Value	Type
Pfam:AAA_33	10	159	2.7e-10	PFAM
Pfam:AAA_17	10	171	5.4e-11	PFAM
Pfam:AAA_18	11	149	7.6e-8	PFAM
Pfam:ADK	13	169	7.5e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156578

SMART Domains

Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817

Domain	Start	End	E-Value	Type
Pfam:AAA_17	10	86	1.5e-10	PFAM
Pfam:ADK	13	89	3.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195721

SMART Domains

Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817

Domain	Start	End	E-Value	Type
Pfam:ADK	13	96	2e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,998,290 (GRCm39)	S431T	probably benign	Het
Acot7	T	G	4: 152,302,272 (GRCm39)	V128G	probably damaging	Het
Actn3	T	C	19: 4,914,691 (GRCm39)	D508G	probably benign	Het
Adam18	T	C	8: 25,137,878 (GRCm39)	I321V	probably benign	Het
Aldh3a2	A	G	11: 61,139,756 (GRCm39)	F459L	probably benign	Het
Atp11a	T	C	8: 12,875,721 (GRCm39)	L256P	probably benign	Het
Bcan	T	C	3: 87,903,999 (GRCm39)	E162G	probably benign	Het
Birc6	A	G	17: 74,959,033 (GRCm39)	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,689,084 (GRCm39)		probably benign	Het
Btla	A	G	16: 45,059,430 (GRCm39)	T45A	probably benign	Het
Cad	T	G	5: 31,226,908 (GRCm39)	S1222A	probably damaging	Het
Cbarp	A	G	10: 79,972,976 (GRCm39)	V39A	possibly damaging	Het
Cct2	A	C	10: 116,894,090 (GRCm39)	D221E	probably benign	Het
Cmya5	T	C	13: 93,177,991 (GRCm39)	D3621G	probably damaging	Het
Col20a1	G	T	2: 180,643,131 (GRCm39)	R867L	possibly damaging	Het
Cops3	A	G	11: 59,718,802 (GRCm39)	V164A	probably benign	Het
Crygf	A	G	1: 65,967,148 (GRCm39)	R91G	probably damaging	Het
Csmd2	T	A	4: 128,440,477 (GRCm39)	S3181T		Het
Cyb5r1	G	T	1: 134,333,696 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,070,383 (GRCm39)	I429F	probably benign	Het
Dock1	A	G	7: 134,475,816 (GRCm39)	T864A	probably benign	Het
Eea1	A	T	10: 95,859,853 (GRCm39)	D713V	probably benign	Het
Fam78b	G	A	1: 166,829,160 (GRCm39)	C9Y	probably damaging	Het
Gga2	A	C	7: 121,597,002 (GRCm39)	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,255,186 (GRCm39)	V2E	unknown	Het
Hectd4	A	T	5: 121,461,994 (GRCm39)	M954L	probably benign	Het
Hmcn1	A	G	1: 150,610,248 (GRCm39)	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Izumo3	T	C	4: 92,033,310 (GRCm39)		probably null	Het
Kremen1	T	C	11: 5,144,981 (GRCm39)	D465G	probably benign	Het
Ksr1	T	C	11: 79,036,882 (GRCm39)	E75G	probably benign	Het
Mmp17	G	T	5: 129,675,773 (GRCm39)	E311*	probably null	Het
Mmrn1	T	A	6: 60,965,271 (GRCm39)	F1101I	probably damaging	Het
Muc13	G	A	16: 33,633,287 (GRCm39)		probably benign	Het
Myl4	T	A	11: 104,475,403 (GRCm39)	M147K	probably damaging	Het
Myo1a	T	A	10: 127,546,856 (GRCm39)	N334K	probably benign	Het
Myo3b	T	C	2: 70,083,338 (GRCm39)	S664P	probably benign	Het
Nptxr	T	C	15: 79,678,655 (GRCm39)	N211D	probably damaging	Het
Ntf5	A	G	7: 45,065,485 (GRCm39)	T206A	probably benign	Het
Obscn	T	A	11: 58,945,229 (GRCm39)	E4596D	probably benign	Het
Or4d10c	T	C	19: 12,065,469 (GRCm39)	E229G	probably benign	Het
Or4f14d	T	C	2: 111,960,427 (GRCm39)	H243R	probably damaging	Het
Or5ak20	T	A	2: 85,184,078 (GRCm39)	Q64L	probably damaging	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5b3	A	T	19: 13,388,037 (GRCm39)	I35F	probably damaging	Het
Or7e169	A	T	9: 19,757,462 (GRCm39)	I151N	possibly damaging	Het
Paip2	A	G	18: 35,749,273 (GRCm39)	N114D	possibly damaging	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,637,870 (GRCm39)	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,818,492 (GRCm39)		probably benign	Het
Ppp1r35	T	A	5: 137,777,731 (GRCm39)	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,320,405 (GRCm39)	V296E	probably benign	Het
Prh1	C	T	6: 132,548,948 (GRCm39)	P152S	unknown	Het
Pygl	T	C	12: 70,242,390 (GRCm39)	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,369,269 (GRCm39)	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,783,842 (GRCm39)	R121L	probably damaging	Het
Scarf2	A	T	16: 17,620,695 (GRCm39)	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,851,821 (GRCm39)	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,163,143 (GRCm39)	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,305,558 (GRCm39)	H278Y	probably damaging	Het
Stambp	C	T	6: 83,524,212 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,311,535 (GRCm39)	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,870,104 (GRCm39)	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,772,816 (GRCm39)	T305A	probably benign	Het
Twf1	T	C	15: 94,479,136 (GRCm39)	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,484,389 (GRCm39)	K212E	probably damaging	Het
Ush2a	A	T	1: 188,676,998 (GRCm39)	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,247,800 (GRCm39)	V1001A	probably benign	Het
Zfp335	C	T	2: 164,751,290 (GRCm39)	R92Q	probably benign	Het

Other mutations in Ak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Ak1	APN	2	32,523,507 (GRCm39)	unclassified	probably benign
R1472:Ak1	UTSW	2	32,520,313 (GRCm39)	missense	probably damaging	1.00
R1476:Ak1	UTSW	2	32,523,478 (GRCm39)	missense	probably benign
R1876:Ak1	UTSW	2	32,520,282 (GRCm39)	missense	probably damaging	0.99
R2004:Ak1	UTSW	2	32,519,622 (GRCm39)	missense	probably benign
R4067:Ak1	UTSW	2	32,519,593 (GRCm39)	missense	probably benign	0.05
R4246:Ak1	UTSW	2	32,523,384 (GRCm39)	missense	possibly damaging	0.54
R4873:Ak1	UTSW	2	32,521,189 (GRCm39)	missense	probably benign	0.28
R4875:Ak1	UTSW	2	32,521,189 (GRCm39)	missense	probably benign	0.28
R5076:Ak1	UTSW	2	32,523,460 (GRCm39)	missense	probably damaging	1.00
R6187:Ak1	UTSW	2	32,523,489 (GRCm39)	missense	probably damaging	0.99
R6458:Ak1	UTSW	2	32,520,385 (GRCm39)	missense	probably damaging	1.00
R6818:Ak1	UTSW	2	32,520,385 (GRCm39)	missense	probably damaging	1.00
R6917:Ak1	UTSW	2	32,521,164 (GRCm39)	missense	possibly damaging	0.86
R6919:Ak1	UTSW	2	32,521,134 (GRCm39)	missense	possibly damaging	0.62
R8238:Ak1	UTSW	2	32,523,681 (GRCm39)	missense	probably damaging	1.00
R9135:Ak1	UTSW	2	32,521,182 (GRCm39)	missense	probably damaging	1.00
R9193:Ak1	UTSW	2	32,520,391 (GRCm39)	missense	probably benign	0.04
R9395:Ak1	UTSW	2	32,523,708 (GRCm39)	missense	probably damaging	1.00
Z1088:Ak1	UTSW	2	32,520,283 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCACCCTACGCAGATTGG -3'
(R):5'- TCAGAGAAGACAGTGTCCACC -3'

Sequencing Primer
(F):5'- TACGCAGATTGGACAGCC -3'
(R):5'- AAGACAGTGTCCACCGTGCC -3'

Posted On

2021-04-30