Mutagenetix > Incidental Mutation

Incidental Mutation 'R0410:Alkbh6'

36584

Institutional Source

Beutler Lab

Gene Symbol

Alkbh6

Ensembl Gene

ENSMUSG00000042831

Gene Name

alkB homolog 6

Synonyms

Abh6

MMRRC Submission

038612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R0410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30008178-30013728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30012031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 104 (P104S)

Ref Sequence

ENSEMBL: ENSMUSP00000121953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014065] [ENSMUST00000054594] [ENSMUST00000060834] [ENSMUST00000136887] [ENSMUST00000176504] [ENSMUST00000137550] [ENSMUST00000176304] [ENSMUST00000177078] [ENSMUST00000176789]

AlphaFold

Q8K2U2

Predicted Effect

probably benign
Transcript: ENSMUST00000014065

SMART Domains

Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921

Domain	Start	End	E-Value	Type
low complexity region	6	33	N/A	INTRINSIC
ANK	117	155	1.04e2	SMART
ANK	160	191	3.74e0	SMART
ANK	197	226	3.54e-1	SMART
CAP_GLY	296	361	2.16e-33	SMART
low complexity region	367	379	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
CAP_GLY	418	483	1.4e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054594

SMART Domains

Protein: ENSMUSP00000055874
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	198	2e-34	BLAST
low complexity region	222	234	N/A	INTRINSIC
low complexity region	290	315	N/A	INTRINSIC
KASH	335	388	2.85e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000060834
AA Change: P118S

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

SMART Domains

Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831
AA Change: P118S

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	23	224	3.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135882

Predicted Effect

probably damaging
Transcript: ENSMUST00000136887
AA Change: P104S

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

SMART Domains

Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831
AA Change: P104S

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	3	210	2.1e-16	PFAM
Pfam:2OG-FeII_Oxy	82	213	1.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137870

Predicted Effect

probably benign
Transcript: ENSMUST00000176504

SMART Domains

Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	92	170	2e-33	BLAST
low complexity region	194	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176232

Predicted Effect

probably benign
Transcript: ENSMUST00000176304

SMART Domains

Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	196	3e-34	BLAST
low complexity region	197	232	N/A	INTRINSIC
KASH	252	305	2.85e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176987

Predicted Effect

probably benign
Transcript: ENSMUST00000177078

SMART Domains

Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	88	150	4e-24	BLAST
low complexity region	174	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177257

Predicted Effect

probably benign
Transcript: ENSMUST00000176571

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,268 (GRCm39)	D170G	probably benign	Het
Actrt3	C	T	3: 30,652,273 (GRCm39)	G274S	probably benign	Het
Adamts18	G	T	8: 114,440,990 (GRCm39)	C889*	probably null	Het
Alms1	A	T	6: 85,564,785 (GRCm39)	E53V	unknown	Het
Ap3s1	T	C	18: 46,912,279 (GRCm39)	C100R	probably benign	Het
Apbb2	G	T	5: 66,609,149 (GRCm39)	A166E	possibly damaging	Het
Asph	A	G	4: 9,595,415 (GRCm39)	V174A	probably damaging	Het
Cacna2d2	T	C	9: 107,401,819 (GRCm39)	L758P	probably damaging	Het
Cacng5	A	G	11: 107,768,195 (GRCm39)	S271P	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Chn1	A	T	2: 73,462,094 (GRCm39)	C236*	probably null	Het
Coro1b	T	C	19: 4,199,362 (GRCm39)	V7A	probably damaging	Het
Dhx16	A	G	17: 36,201,859 (GRCm39)	Y962C	probably damaging	Het
Dixdc1	T	C	9: 50,596,153 (GRCm39)	D152G	probably damaging	Het
Dmrt1	T	C	19: 25,483,467 (GRCm39)	S84P	probably damaging	Het
Dnah10	A	G	5: 124,832,799 (GRCm39)	D844G	probably benign	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Efcab7	T	C	4: 99,735,487 (GRCm39)		probably null	Het
Fam83g	A	G	11: 61,594,218 (GRCm39)	D584G	probably damaging	Het
Fbxo7	T	A	10: 85,865,102 (GRCm39)		probably null	Het
Ffar1	T	C	7: 30,560,055 (GRCm39)	T281A	probably benign	Het
Fntb	T	C	12: 76,934,826 (GRCm39)	V201A	probably benign	Het
Gart	C	A	16: 91,438,215 (GRCm39)	A101S	probably damaging	Het
Gbp9	T	C	5: 105,232,939 (GRCm39)	T238A	probably benign	Het
Hectd4	T	C	5: 121,424,329 (GRCm39)	L663S	possibly damaging	Het
Helz2	A	T	2: 180,872,386 (GRCm39)	V2512E	probably damaging	Het
Hip1	A	C	5: 135,487,009 (GRCm39)	L66R	probably damaging	Het
Iigp1	T	A	18: 60,523,375 (GRCm39)	D164E	probably benign	Het
Kcnip3	A	G	2: 127,301,986 (GRCm39)	S193P	probably damaging	Het
Klra9	T	A	6: 130,165,707 (GRCm39)	T103S	probably benign	Het
Meis2	T	C	2: 115,694,709 (GRCm39)	*471W	probably null	Het
Minar1	T	G	9: 89,484,256 (GRCm39)	E380D	probably damaging	Het
Mrpl21	T	C	19: 3,334,792 (GRCm39)	S45P	possibly damaging	Het
Mterf1b	A	G	5: 4,246,488 (GRCm39)	E43G	probably benign	Het
Mycbp2	G	T	14: 103,372,569 (GRCm39)	S4092R	probably damaging	Het
Nfatc3	A	T	8: 106,822,828 (GRCm39)	N538I	probably damaging	Het
Nphp4	T	C	4: 152,641,503 (GRCm39)	C1095R	probably benign	Het
Npm2	T	A	14: 70,889,993 (GRCm39)	T13S	probably benign	Het
Or1m1	C	A	9: 18,666,137 (GRCm39)	V265F	probably damaging	Het
Or7e176	T	A	9: 20,171,797 (GRCm39)	F220L	probably benign	Het
Plcg2	A	T	8: 118,342,112 (GRCm39)	I1158F	probably damaging	Het
Popdc3	T	C	10: 45,193,829 (GRCm39)	V210A	possibly damaging	Het
Postn	T	C	3: 54,292,698 (GRCm39)	L755S	possibly damaging	Het
Prdx6b	T	C	2: 80,123,373 (GRCm39)	F61L	probably damaging	Het
Rars1	C	T	11: 35,716,847 (GRCm39)	R223H	probably damaging	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Scaf4	A	G	16: 90,057,058 (GRCm39)	Y98H	unknown	Het
Scn4a	A	G	11: 106,214,775 (GRCm39)	I1274T	probably damaging	Het
Senp2	G	T	16: 21,828,444 (GRCm39)	R18L	probably damaging	Het
Six5	T	A	7: 18,830,381 (GRCm39)	V336D	probably damaging	Het
Slc31a2	G	A	4: 62,210,890 (GRCm39)	E8K	probably benign	Het
Slc4a7	A	T	14: 14,738,299 (GRCm38)	T184S	probably damaging	Het
Slco2a1	T	A	9: 102,950,513 (GRCm39)		probably null	Het
Smr3a	T	G	5: 88,156,070 (GRCm39)		probably benign	Het
Sqor	T	C	2: 122,629,442 (GRCm39)	V100A	probably benign	Het
Srarp	T	C	4: 141,160,459 (GRCm39)	N125D	possibly damaging	Het
Stam	T	C	2: 14,143,802 (GRCm39)	V364A	probably benign	Het
Tgm5	T	C	2: 120,908,039 (GRCm39)	I46V	possibly damaging	Het
Tie1	A	T	4: 118,337,766 (GRCm39)	V443E	probably damaging	Het
Tipin	T	C	9: 64,195,397 (GRCm39)	M1T	probably null	Het
Tnc	T	C	4: 63,925,931 (GRCm39)	T950A	probably benign	Het
Tns3	T	C	11: 8,385,852 (GRCm39)	D1382G	probably benign	Het
Tor1aip1	A	G	1: 155,911,686 (GRCm39)	V99A	possibly damaging	Het
Trim16	C	T	11: 62,711,297 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,618,701 (GRCm39)	N14448K	possibly damaging	Het
Ttn	C	T	2: 76,717,204 (GRCm39)		probably benign	Het
Tut4	A	G	4: 108,343,752 (GRCm39)	R255G	probably benign	Het
Vmn1r23	A	G	6: 57,903,175 (GRCm39)	I201T	probably benign	Het
Vmn2r13	T	A	5: 109,321,679 (GRCm39)	K339N	probably benign	Het
Yap1	A	G	9: 8,001,468 (GRCm39)	Y173H	probably damaging	Het

Other mutations in Alkbh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:Alkbh6	APN	7	30,013,536 (GRCm39)	missense	probably damaging	1.00
R0284:Alkbh6	UTSW	7	30,013,413 (GRCm39)	missense	probably benign
R1879:Alkbh6	UTSW	7	30,011,320 (GRCm39)	missense	probably damaging	1.00
R2231:Alkbh6	UTSW	7	30,012,015 (GRCm39)	critical splice acceptor site	probably null
R5961:Alkbh6	UTSW	7	30,013,617 (GRCm39)	splice site	probably null
R9663:Alkbh6	UTSW	7	30,013,371 (GRCm39)	missense	probably damaging	0.99
Z1186:Alkbh6	UTSW	7	30,011,719 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGCTAACCATGTCCTTGTGAACC -3'
(R):5'- TGGGATGTCAGACGCTAGAATGCC -3'

Sequencing Primer
(F):5'- TGTGAACCAGTATCTGCCTG -3'
(R):5'- CGCTAGAATGCCCCCAAATG -3'

Posted On

2013-05-09