Mutagenetix > Incidental Mutation

Incidental Mutation 'R2429:Batf2'

250359

Institutional Source

Beutler Lab

Gene Symbol

Batf2

Ensembl Gene

ENSMUSG00000039699

Gene Name

basic leucine zipper transcription factor, ATF-like 2

Synonyms

4933430F08Rik

MMRRC Submission

040391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2429 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6214424-6222506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6221538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 116 (Y116C)

Ref Sequence

ENSEMBL: ENSMUSP00000045744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045042]

AlphaFold

Q8R1H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000045042
AA Change: Y116C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045744
Gene: ENSMUSG00000039699
AA Change: Y116C

Domain	Start	End	E-Value	Type
BRLZ	16	80	6.76e-12	SMART
low complexity region	147	158	N/A	INTRINSIC
low complexity region	168	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141858

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (34/34)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to parasitic infection induced morbidity/mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	A	T	2: 170,421,745 (GRCm39)	M45K	unknown	Het
Abcd3	A	G	3: 121,586,512 (GRCm39)	F63L	probably damaging	Het
Acsm3	A	T	7: 119,367,223 (GRCm39)	M19L	probably benign	Het
Actn4	T	C	7: 28,597,496 (GRCm39)	K41E	probably benign	Het
Atp8b3	T	A	10: 80,362,728 (GRCm39)	I677L	probably benign	Het
Auh	C	T	13: 53,073,052 (GRCm39)	G110R	probably damaging	Het
Cntn6	T	C	6: 104,627,526 (GRCm39)	Y120H	possibly damaging	Het
Gnpat	T	C	8: 125,603,758 (GRCm39)	F212S	probably damaging	Het
Gpd1	A	G	15: 99,618,488 (GRCm39)	M181V	probably benign	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Kif21a	G	A	15: 90,882,208 (GRCm39)	T32M	probably damaging	Het
Macf1	A	G	4: 123,326,377 (GRCm39)	V3477A	probably damaging	Het
Mettl13	A	T	1: 162,373,894 (GRCm39)	L119*	probably null	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Myh8	A	G	11: 67,194,723 (GRCm39)	N1645D	probably benign	Het
Myo6	T	C	9: 80,210,583 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,731,006 (GRCm39)	Y312F	probably damaging	Het
Pla2r1	C	A	2: 60,345,312 (GRCm39)	C348F	probably damaging	Het
Plcb1	A	G	2: 135,179,362 (GRCm39)	N590S	probably damaging	Het
Prpsap1	G	A	11: 116,363,061 (GRCm39)	T314M	probably damaging	Het
Prss35	T	C	9: 86,637,398 (GRCm39)	V56A	probably benign	Het
Setx	T	C	2: 29,069,910 (GRCm39)	S2572P	probably benign	Het
Sf3b1	T	C	1: 55,055,960 (GRCm39)	D93G	possibly damaging	Het
Slc26a7	C	A	4: 14,506,399 (GRCm39)		probably benign	Het
Slc39a12	T	G	2: 14,409,897 (GRCm39)	S298A	probably benign	Het
Sorl1	G	T	9: 41,948,366 (GRCm39)	D806E	probably damaging	Het
Syt1	T	C	10: 108,526,781 (GRCm39)	K43E	possibly damaging	Het
Trmt1l	T	A	1: 151,309,581 (GRCm39)	L88Q	probably damaging	Het
Zfp334	G	A	2: 165,222,432 (GRCm39)	T537I	probably damaging	Het
Zfp574	T	A	7: 24,779,482 (GRCm39)	L168*	probably null	Het

Other mutations in Batf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Batf2	APN	19	6,221,991 (GRCm39)	missense	probably damaging	1.00
IGL02552:Batf2	APN	19	6,221,537 (GRCm39)	missense	probably benign	0.43
IGL02966:Batf2	APN	19	6,221,819 (GRCm39)	missense	probably damaging	0.96
R4008:Batf2	UTSW	19	6,221,378 (GRCm39)	missense	probably damaging	1.00
R4712:Batf2	UTSW	19	6,221,357 (GRCm39)	missense	probably benign	0.24
R7082:Batf2	UTSW	19	6,221,405 (GRCm39)	missense	possibly damaging	0.78
R7267:Batf2	UTSW	19	6,221,396 (GRCm39)	missense	probably benign
R7400:Batf2	UTSW	19	6,221,538 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTTGGAGAAACAGAACCACG -3'
(R):5'- CTTAGAGAAAGACCCCAGCAGG -3'

Sequencing Primer
(F):5'- GAACCACGCCCTTCGGAAG -3'
(R):5'- CAGCAGGCTGGAACCAG -3'

Posted On

2014-11-12