Mutagenetix > Incidental Mutations

Incidental Mutation 'RF034:Defb22'

604477

Institutional Source

Beutler Lab

Gene Symbol

Defb22

Ensembl Gene

ENSMUSG00000027468

Gene Name

defensin beta 22

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF034 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

152485663-152490138 bp(-) (GRCm38)

Type of Mutation

small insertion (6 aa in frame mutation)

DNA Base Change (assembly)

TGCGGCA to TGCGGCAGGGCTGGCCTTTGCGGCA at 152485832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028966]

AlphaFold

Q8BVC1

Predicted Effect

probably benign
Transcript: ENSMUST00000028966

SMART Domains

Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Defensin_beta_2	26	59	4e-11	PFAM
low complexity region	89	150	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	TTATTATGATTATTAC	3: 37,050,760		probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCGGTGGCTGC	1: 82,913,580		probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTACATCCTGGGCTGCT	4: 155,905,092		probably benign	Het
Alpk3	GAGAAGGCAC	G	7: 81,092,414		probably benign	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,502,722		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	CCCAGGGATGTGACAGACACACTG	CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG	9: 87,040,417		probably benign	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGTA	9: 87,040,447		probably null	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT	9: 20,910,120		probably null	Het
Fam71e1	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,500,523		probably null	Het
Fbrsl1	GTG	GTGCGTGTGCTGTTG	5: 110,378,149		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gabre	GCTC	GCTCTGTCTC	X: 72,270,762		probably benign	Het
Gm15155	CAA	CAACAACAAA	X: 156,345,640		probably null	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTAGAGATGGAGC	7: 68,226,176		probably benign	Het
Krtap28-10	CACCACAGC	CACCACAGCCACAGCGACCACAGC	1: 83,042,282		probably benign	Het
Mamld1	AGC	AGCGGC	X: 71,118,835		probably benign	Het
Map1a	CCAGCTCCAGCTCCA	CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA	2: 121,306,304		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Neu1	TCTTCTA	T	17: 34,932,558		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,081,371		probably benign	Het
Olfr850	G	T	9: 19,477,632	A206E	possibly damaging	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374		probably null	Het
Rassf6	CACTCATGGTCCTGTAGAGCAATGGGGATTC	CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,912		probably benign	Het
Rassf6	ATGGTCCTGTAGAGCAATGGGGATTC	ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,917		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,608,923		probably benign	Het
Rpgrip1	AGAGGAGGA	AGA	14: 52,149,526		probably benign	Het
Rprd2	AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC	AGAGGCTGTGGTGCTC	3: 95,766,320		probably benign	Het
Rsf1	CG	CGAGG	7: 97,579,908		probably benign	Het
Rtbdn	GCGGC	GCGGCATCGGC	8: 84,956,175		probably benign	Het
Smarca2	CA	CACCAAGA	19: 26,631,011		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,097		probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098		probably null	Het
Tmed6	AGC	AGCTGGC	8: 107,061,596		probably null	Het
Tomm5	TCTTCCGC	TCTTCCGCAGCTTCCGC	4: 45,107,976		probably benign	Het
Trappc9	TG	TGATGCTGCTGCTGCGG	15: 72,801,298		probably benign	Het

Other mutations in Defb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Defb22	APN	2	152486079	missense	possibly damaging	0.93
IGL02040:Defb22	APN	2	152490056	missense	possibly damaging	0.83
IGL03159:Defb22	APN	2	152490075	missense	probably benign	0.00
R5153:Defb22	UTSW	2	152485802	missense	unknown
R5387:Defb22	UTSW	2	152485906	missense	unknown
R6141:Defb22	UTSW	2	152485802	missense	unknown
R7153:Defb22	UTSW	2	152485920	missense	unknown
R7385:Defb22	UTSW	2	152486197	missense	probably damaging	0.99
R7650:Defb22	UTSW	2	152486103	missense	probably benign	0.40
R7671:Defb22	UTSW	2	152486030	missense	unknown
R8242:Defb22	UTSW	2	152486087	missense	probably damaging	0.99
R8271:Defb22	UTSW	2	152485792	missense	unknown
R9224:Defb22	UTSW	2	152485801	missense	unknown
RF013:Defb22	UTSW	2	152485831	small insertion	probably benign
RF021:Defb22	UTSW	2	152485832	small insertion	probably benign
RF025:Defb22	UTSW	2	152485823	small insertion	probably benign
RF025:Defb22	UTSW	2	152485824	small insertion	probably benign
RF029:Defb22	UTSW	2	152485833	small insertion	probably benign
RF041:Defb22	UTSW	2	152485823	small insertion	probably benign
RF043:Defb22	UTSW	2	152485833	small insertion	probably benign
RF062:Defb22	UTSW	2	152485825	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTGACTTAGGCCTCTTGG -3'
(R):5'- TCAAAATTAGTGGTCACTGTGGG -3'

Sequencing Primer
(F):5'- CTTGGCTTTAATCAACCAGGG -3'
(R):5'- TCAGATAATCTTGTCACAGCAGG -3'

Posted On

2019-12-04