Mutagenetix > Incidental Mutations

Incidental Mutation 'R5690:Ak6'

443645

Institutional Source

Beutler Lab

Gene Symbol

Ak6

Ensembl Gene

ENSMUSG00000078941

Gene Name

adenylate kinase 6

Synonyms

2810046E22Rik, 4921516M08Rik

MMRRC Submission

043323-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5690 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

100650979-100666359 bp(+) (GRCm38)

Type of Mutation

splice site (26 bp from exon)

DNA Base Change (assembly)

A to G at 100655621 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139407 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000084721
AA Change: M191V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941
AA Change: M191V

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: M191V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293
AA Change: M191V

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

probably null
Transcript: ENSMUST00000185767

SMART Domains

Protein: ENSMUSP00000140423
Gene: ENSMUSG00000052293

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 null
Transcript: ENSMUST00000187792

SMART Domains

Protein: ENSMUSP00000140051
Gene: ENSMUSG00000052293

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 null
Transcript: ENSMUST00000190165

SMART Domains

Protein: ENSMUSP00000139407
Gene: ENSMUSG00000052293

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: ENSMUST00000190594
AA Change: M191V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293
AA Change: M191V

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: ENSMUST00000190729

Predicted Effect

probably benign
Transcript: ENSMUST00000226050

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008F13Rik	G	A	2: 156,865,314	V58I	probably benign	Het
2810474O19Rik	T	C	6: 149,328,237	L927S	possibly damaging	Het
4930533K18Rik	A	G	10: 70,923,314		probably benign	Het
Acadl	T	C	1: 66,853,286	Y126C	probably damaging	Het
Ap1s1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	5: 137,037,379		probably benign	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Atp6v1e1	A	T	6: 120,808,356		probably null	Het
Axin1	A	G	17: 26,194,937	Y792C	probably damaging	Het
C1s2	T	C	6: 124,631,037	N233S	probably benign	Het
Ccer2	C	A	7: 28,756,204		probably benign	Het
Cfap46	A	G	7: 139,638,353	S1481P	probably benign	Het
Cspg4	A	T	9: 56,898,735	T2277S	probably benign	Het
Ctsl	T	A	13: 64,365,208	N300I	probably damaging	Het
Dnah2	T	C	11: 69,491,544	I1247V	probably benign	Het
Dsg3	A	T	18: 20,522,051	Q135L	probably benign	Het
Efcab14	G	A	4: 115,760,047	V318M	possibly damaging	Het
Etl4	G	A	2: 20,805,836	S910N	probably benign	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Frmd4b	T	C	6: 97,353,203	E133G	possibly damaging	Het
Herc2	T	C	7: 56,157,705	F2514S	probably benign	Het
Il18rap	A	G	1: 40,537,112	D261G	possibly damaging	Het
Klk1b16	A	G	7: 44,140,894		probably null	Het
Lrp1b	A	C	2: 40,750,894		probably null	Het
Mrpl45	C	A	11: 97,321,586		probably benign	Het
Myh13	A	G	11: 67,329,275	E150G	probably damaging	Het
Nbas	T	A	12: 13,336,284	V737D	probably damaging	Het
Ncr1	T	C	7: 4,338,297	Y59H	probably damaging	Het
Nt5c1a	T	A	4: 123,215,939	V277E	probably damaging	Het
Ogfod1	T	A	8: 94,058,141	S343T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Pnpla1	A	T	17: 28,878,372	I171F	probably damaging	Het
Rdh8	A	G	9: 20,825,489	N259S	probably damaging	Het
Slc22a12	A	G	19: 6,536,848	M496T	probably benign	Het
Slc8b1	G	A	5: 120,513,205	W10*	probably null	Het
Smarcc2	G	A	10: 128,484,407	G887S	probably damaging	Het
Smc1b	A	G	15: 85,112,773	S549P	probably damaging	Het
Synj2	A	G	17: 6,035,527	M1181V	probably benign	Het
Tbx15	T	C	3: 99,308,850	S76P	probably damaging	Het
Tbx2	A	T	11: 85,837,053	I271F	probably damaging	Het
Thap4	A	G	1: 93,716,630		probably null	Het
Tmc2	A	G	2: 130,232,386	Y333C	probably damaging	Het
Trcg1	C	T	9: 57,241,811	P222L	probably benign	Het
Tubb3	T	C	8: 123,421,306	V326A	probably benign	Het
Unc80	A	C	1: 66,640,572	I2101L	probably benign	Het
Vmn1r19	T	C	6: 57,404,795	L111S	probably benign	Het
Vps16	C	T	2: 130,439,091	Q226*	probably null	Het
Xpo4	T	C	14: 57,590,989	I805V	probably benign	Het

Other mutations in Ak6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Ak6	APN	13	100664091	missense	probably benign	0.05
PIT4151001:Ak6	UTSW	13	100655095	missense	probably damaging	0.98
R0189:Ak6	UTSW	13	100655142	missense	probably damaging	1.00
R1716:Ak6	UTSW	13	100655669	missense	probably benign
R1736:Ak6	UTSW	13	100655181	splice site	probably null
R4351:Ak6	UTSW	13	100655603	nonsense	probably null
R4625:Ak6	UTSW	13	100655673	missense	probably benign	0.00
R5711:Ak6	UTSW	13	100654214	missense	probably damaging	0.97
R5870:Ak6	UTSW	13	100655424	missense	probably damaging	1.00
R6018:Ak6	UTSW	13	100665951	nonsense	probably null
R6386:Ak6	UTSW	13	100655803	unclassified	probably benign
R7524:Ak6	UTSW	13	100663907	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAACTGCCCCAAACTATAGGC -3'
(R):5'- CAGGTTACATGCATCGTGGC -3'

Sequencing Primer
(F):5'- GTCTTTACAGAAAAAGGCACCTG -3'
(R):5'- TACATGCATCGTGGCTAGAC -3'

Posted On

2016-11-09