Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Defb22'

604262

Institutional Source

Beutler Lab

Gene Symbol

Defb22

Ensembl Gene

ENSMUSG00000027468

Gene Name

defensin beta 22

Synonyms

9230002F21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF029 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

152327586-152332058 bp(-) (GRCm39)

Type of Mutation

small insertion (6 aa in frame mutation)

DNA Base Change (assembly)

GCGGCA to GCGGCAGAGCTGGCCTTTGCGGCA at 152327753 bp (GRCm39)

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: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	GGTGGCCAG	GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG	6: 131,529,858 (GRCm39)		probably benign	Het
Abca17	T	TCCCTC	17: 24,506,701 (GRCm39)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,518,310 (GRCm39)		probably null	Het
Cacna1a	CCA	CCAACA	8: 85,365,353 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 86,922,483 (GRCm39)		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 86,922,495 (GRCm39)		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,821,419 (GRCm39)		probably null	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Exd2	CCACAGC	CC	12: 80,522,720 (GRCm39)		probably null	Het
Fam171b	GCAGC	GCAGCATCAGC	2: 83,643,236 (GRCm39)		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTTCGTGTGCTGGT	5: 110,526,005 (GRCm39)		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)		probably null	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 71,313,665 (GRCm39)		probably benign	Het
Gm47955	G	GTTGTGGCTT	1: 82,938,248 (GRCm39)		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,060,268 (GRCm39)		probably benign	Het
Ifi208	AGATG	AG	1: 173,505,262 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,019,991 (GRCm39)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 181,339,372 (GRCm39)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,339,381 (GRCm39)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,458,075 (GRCm39)		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,458,086 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Polr1has	CG	CCACCACCACCACCCCCCCCAGG	17: 37,275,963 (GRCm39)		probably benign	Het
Rasa2	CGC	CGCAGC	9: 96,513,520 (GRCm39)		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 155,938,015 (GRCm39)		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,684,950 (GRCm39)		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,673,172 (GRCm39)		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 109,682,724 (GRCm39)		probably benign	Het

Other mutations in Defb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Defb22	APN	2	152,327,999 (GRCm39)	missense	possibly damaging	0.93
IGL02040:Defb22	APN	2	152,331,976 (GRCm39)	missense	possibly damaging	0.83
IGL03159:Defb22	APN	2	152,331,995 (GRCm39)	missense	probably benign	0.00
R5153:Defb22	UTSW	2	152,327,722 (GRCm39)	missense	unknown
R5387:Defb22	UTSW	2	152,327,826 (GRCm39)	missense	unknown
R6141:Defb22	UTSW	2	152,327,722 (GRCm39)	missense	unknown
R7153:Defb22	UTSW	2	152,327,840 (GRCm39)	missense	unknown
R7385:Defb22	UTSW	2	152,328,117 (GRCm39)	missense	probably damaging	0.99
R7650:Defb22	UTSW	2	152,328,023 (GRCm39)	missense	probably benign	0.40
R7671:Defb22	UTSW	2	152,327,950 (GRCm39)	missense	unknown
R8242:Defb22	UTSW	2	152,328,007 (GRCm39)	missense	probably damaging	0.99
R8271:Defb22	UTSW	2	152,327,712 (GRCm39)	missense	unknown
R9224:Defb22	UTSW	2	152,327,721 (GRCm39)	missense	unknown
R9706:Defb22	UTSW	2	152,327,820 (GRCm39)	missense	unknown
RF013:Defb22	UTSW	2	152,327,751 (GRCm39)	small insertion	probably benign
RF021:Defb22	UTSW	2	152,327,752 (GRCm39)	small insertion	probably benign
RF025:Defb22	UTSW	2	152,327,744 (GRCm39)	small insertion	probably benign
RF025:Defb22	UTSW	2	152,327,743 (GRCm39)	small insertion	probably benign
RF034:Defb22	UTSW	2	152,327,752 (GRCm39)	small insertion	probably benign
RF041:Defb22	UTSW	2	152,327,743 (GRCm39)	small insertion	probably benign
RF043:Defb22	UTSW	2	152,327,753 (GRCm39)	small insertion	probably benign
RF062:Defb22	UTSW	2	152,327,745 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAATCAACACTGACTTAGGCC -3'
(R):5'- GCGGTGGACAGAATTCAGATAATC -3'

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

Posted On

2019-12-04