Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Ak6'

455149

Institutional Source

Beutler Lab

Gene Symbol

Ak6

Ensembl Gene

ENSMUSG00000078941

Gene Name

adenylate kinase 6

Synonyms

2810046E22Rik, 4921516M08Rik

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5870 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

100787851-100802923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100791932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 125 (P125Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022135] [ENSMUST00000022136] [ENSMUST00000084721] [ENSMUST00000167256] [ENSMUST00000177848] [ENSMUST00000185767] [ENSMUST00000187792] [ENSMUST00000190165] [ENSMUST00000190594] [ENSMUST00000226050] [ENSMUST00000190729]

AlphaFold

Q8VCP8

Predicted Effect

probably benign
Transcript: ENSMUST00000022135

SMART Domains

Protein: ENSMUSP00000022135
Gene: ENSMUSG00000078941

Domain	Start	End	E-Value	Type
Pfam:AAA_17	5	113	1.1e-13	PFAM
Pfam:AAA	6	45	3.6e-6	PFAM
Pfam:AAA_18	6	126	2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022136

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084721
AA Change: P125Q

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941
AA Change: P125Q

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	7.3e-65	PFAM
Pfam:Histone	12	78	2.7e-7	PFAM
Pfam:CENP-S	16	80	7.6e-10	PFAM
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167256
AA Change: P125Q

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293
AA Change: P125Q

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	9	129	1.4e-52	PFAM
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177848

SMART Domains

Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185767
AA Change: P125Q

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140423
Gene: ENSMUSG00000052293
AA Change: P125Q

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	2.2e-62	PFAM
Pfam:Bromo_TP	12	77	7.6e-5	PFAM
Pfam:CENP-S	15	80	5.7e-7	PFAM
Pfam:Histone	16	78	1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185901

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187792
AA Change: P125Q

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140051
Gene: ENSMUSG00000052293
AA Change: P125Q

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	3e-62	PFAM
Pfam:CENP-S	15	80	6.9e-7	PFAM
Pfam:Histone	16	78	1.3e-4	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190165
AA Change: P125Q

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

SMART Domains

Protein: ENSMUSP00000139407
Gene: ENSMUSG00000052293
AA Change: P125Q

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	3.8e-62	PFAM
Pfam:CENP-S	15	80	7.9e-7	PFAM
Pfam:Histone	16	78	1.4e-4	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190594
AA Change: P125Q

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293
AA Change: P125Q

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	7.3e-65	PFAM
Pfam:Histone	12	78	2.7e-7	PFAM
Pfam:CENP-S	16	80	7.6e-10	PFAM
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190210

Predicted Effect

probably benign
Transcript: ENSMUST00000226050

Predicted Effect

probably benign
Transcript: ENSMUST00000190729

Meta Mutation Damage Score

0.2743

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,441,394 (GRCm39)	Q625*	probably null	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Cts7	A	T	13: 61,503,545 (GRCm39)	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med27	A	G	2: 29,279,823 (GRCm39)		probably null	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Pot1a	G	A	6: 25,778,950 (GRCm39)	T48I	possibly damaging	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Surf1	G	T	2: 26,806,271 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,160,110 (GRCm39)	L42R	probably benign	Het

Other mutations in Ak6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Ak6	APN	13	100,800,599 (GRCm39)	missense	probably benign	0.05
PIT4151001:Ak6	UTSW	13	100,791,603 (GRCm39)	missense	probably damaging	0.98
R0189:Ak6	UTSW	13	100,791,650 (GRCm39)	missense	probably damaging	1.00
R1716:Ak6	UTSW	13	100,792,177 (GRCm39)	missense	probably benign
R1736:Ak6	UTSW	13	100,791,689 (GRCm39)	splice site	probably null
R4351:Ak6	UTSW	13	100,792,111 (GRCm39)	nonsense	probably null
R4625:Ak6	UTSW	13	100,792,181 (GRCm39)	missense	probably benign	0.00
R5690:Ak6	UTSW	13	100,792,129 (GRCm39)	splice site	probably null
R5711:Ak6	UTSW	13	100,790,722 (GRCm39)	missense	probably damaging	0.97
R6018:Ak6	UTSW	13	100,802,459 (GRCm39)	nonsense	probably null
R6386:Ak6	UTSW	13	100,792,311 (GRCm39)	unclassified	probably benign
R7524:Ak6	UTSW	13	100,800,415 (GRCm39)	missense	probably benign
R8690:Ak6	UTSW	13	100,791,857 (GRCm39)	missense	possibly damaging	0.92
R9408:Ak6	UTSW	13	100,792,003 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GATGACGTACGACTGGCAATC -3'
(R):5'- CTGTTGATGTTGCAGGTATAGAAGC -3'

Sequencing Primer
(F):5'- AATCCAGTGCCGTGCTGAC -3'
(R):5'- AGGCATCTGTACTGTAAACCTCTG -3'

Posted On

2017-02-10