Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Ak6'

199741

Institutional Source

Beutler Lab

Gene Symbol

Ak6

Ensembl Gene

ENSMUSG00000078941

Gene Name

adenylate kinase 6

Synonyms

2810046E22Rik, 4921516M08Rik

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100787851-100802923 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 100791689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136292 (fasta)

Gene Model

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

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 null
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

probably benign
Transcript: ENSMUST00000084721
AA Change: F44Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941
AA Change: F44Y

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

probably benign
Transcript: ENSMUST00000167256
AA Change: F44Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293
AA Change: F44Y

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 null
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

probably benign
Transcript: ENSMUST00000185767
AA Change: F44Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140423
Gene: ENSMUSG00000052293
AA Change: F44Y

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

probably benign
Transcript: ENSMUST00000187792
AA Change: F44Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140051
Gene: ENSMUSG00000052293
AA Change: F44Y

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 benign
Transcript: ENSMUST00000190594
AA Change: F44Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293
AA Change: F44Y

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

probably benign
Transcript: ENSMUST00000190165
AA Change: F44Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139407
Gene: ENSMUSG00000052293
AA Change: F44Y

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

noncoding transcript
Transcript: ENSMUST00000190210

Predicted Effect

probably benign
Transcript: ENSMUST00000190729

Predicted Effect

probably benign
Transcript: ENSMUST00000226050

Meta Mutation Damage Score

0.1731

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	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
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
R5870:Ak6	UTSW	13	100,791,932 (GRCm39)	missense	probably damaging	1.00
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'- TCAGGAAGGACAGGTTACTGTGAACTC -3'
(R):5'- CAGGTGGCAATCTAGGACCTGAATATG -3'

Sequencing Primer
(F):5'- GCCCAGACTCATTGCATATAAAGTG -3'
(R):5'- CAATCTAGGACCTGAATATGGCTTG -3'

Posted On

2014-05-23