Mutagenetix > Incidental Mutation

Incidental Mutation 'R8542:Alkbh1'

659438

Institutional Source

Beutler Lab

Gene Symbol

Alkbh1

Ensembl Gene

ENSMUSG00000079036

Gene Name

alkB homolog 1, histone H2A dioxygenase

Synonyms

Nrp, alkB, Alkbh

MMRRC Submission

068507-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R8542 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87474847-87490609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87478275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 212 (F212S)

Ref Sequence

ENSEMBL: ENSMUSP00000124565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000162986]

AlphaFold

P0CB42

Predicted Effect

probably benign
Transcript: ENSMUST00000159079

SMART Domains

Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160113

SMART Domains

Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000124892
Gene: ENSMUSG00000079036
AA Change: F95S

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	1	180	3.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161712

SMART Domains

Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162247
AA Change: S194P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036
AA Change: S194P

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162961
AA Change: F212S

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

SMART Domains

Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: F212S

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	98	344	6.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162986

SMART Domains

Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show delayed fetal growth, impaired placental development and low birth weight. Mice homozygous for another null allele show sex-ratio distortion, reduced survival, spermatogenic defects and incompletely penetrant eye, neural tube, skeleton and craniofacial defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,634,369 (GRCm39)	T634A	probably benign	Het
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Atp10b	A	G	11: 43,121,208 (GRCm39)	D957G	probably benign	Het
Bag6	G	A	17: 35,363,334 (GRCm39)	G725S	probably damaging	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Cilp	A	T	9: 65,185,405 (GRCm39)	D500V	probably damaging	Het
Col27a1	T	A	4: 63,239,662 (GRCm39)		probably null	Het
Defa3	T	A	8: 21,778,179 (GRCm39)		probably null	Het
Dst	C	T	1: 34,231,688 (GRCm39)	H3272Y	possibly damaging	Het
Egfl8	A	G	17: 34,833,243 (GRCm39)	C168R	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm49368	T	C	7: 127,679,433 (GRCm39)	Y192H	probably damaging	Het
Ier5l	A	G	2: 30,362,948 (GRCm39)	I359T	possibly damaging	Het
Impg1	C	T	9: 80,312,080 (GRCm39)	E168K	probably damaging	Het
Iqcn	C	A	8: 71,166,520 (GRCm39)		probably null	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Klra3	A	T	6: 130,310,096 (GRCm39)		probably null	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Morc3	G	T	16: 93,644,319 (GRCm39)		probably null	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Ncam1	G	T	9: 49,419,898 (GRCm39)	T806K	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Or52m2	A	G	7: 102,263,872 (GRCm39)	V108A	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Pfkp	G	T	13: 6,631,557 (GRCm39)	A166E	possibly damaging	Het
Pnpt1	C	A	11: 29,082,773 (GRCm39)		probably null	Het
Prss40	A	G	1: 34,596,967 (GRCm39)	W76R	probably damaging	Het
Rbms1	A	C	2: 60,612,265 (GRCm39)	V165G	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Sdr42e2	C	A	7: 120,417,137 (GRCm39)	P194Q	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
St6galnac6	T	A	2: 32,509,513 (GRCm39)	I305N	probably damaging	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tdrd6	T	C	17: 43,935,783 (GRCm39)	E1755G	probably damaging	Het
Tenm4	A	T	7: 96,461,139 (GRCm39)	D895V	probably damaging	Het
Tmem190	T	A	7: 4,787,157 (GRCm39)	C120*	probably null	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Usp20	T	G	2: 30,901,636 (GRCm39)	V467G	possibly damaging	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zfp629	C	A	7: 127,210,364 (GRCm39)	E482*	probably null	Het

Other mutations in Alkbh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Alkbh1	APN	12	87,490,467 (GRCm39)	missense	probably damaging	1.00
IGL03111:Alkbh1	APN	12	87,480,907 (GRCm39)	missense	probably damaging	1.00
IGL03264:Alkbh1	APN	12	87,478,197 (GRCm39)	missense	probably damaging	1.00
R1439:Alkbh1	UTSW	12	87,475,915 (GRCm39)	missense	probably damaging	1.00
R2056:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R2058:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R2059:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R4565:Alkbh1	UTSW	12	87,478,236 (GRCm39)	missense	probably damaging	1.00
R5712:Alkbh1	UTSW	12	87,475,883 (GRCm39)	missense	probably benign	0.05
R6291:Alkbh1	UTSW	12	87,475,864 (GRCm39)	missense	possibly damaging	0.67
R7593:Alkbh1	UTSW	12	87,487,095 (GRCm39)	nonsense	probably null
R7776:Alkbh1	UTSW	12	87,478,215 (GRCm39)	missense	probably damaging	1.00
R8723:Alkbh1	UTSW	12	87,485,278 (GRCm39)	missense	probably benign	0.10
R9363:Alkbh1	UTSW	12	87,487,080 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCACGCAGGCTTCATGTTTTAC -3'
(R):5'- AGGTGCCTGTTTGAAAAGTAGTTAG -3'

Sequencing Primer
(F):5'- CAGGCTTCATGTTTTACTCTGTATG -3'
(R):5'- CCTGTTTGAAAAGTAGTTAGTGAGG -3'

Posted On

2021-01-18