Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Defb22'

603865

Institutional Source

Beutler Lab

Gene Symbol

Defb22

Ensembl Gene

ENSMUSG00000027468

Gene Name

defensin beta 22

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF021 (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 TGCGGCAGAGCTGGGCGTTGCGGCA 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: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748 (GRCm38)		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569 (GRCm38)		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234 (GRCm38)		probably benign	Het
Ankrd44	T	C	1: 54,778,312 (GRCm38)	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629 (GRCm38)	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473 (GRCm38)	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338 (GRCm38)	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360 (GRCm38)	F402S	possibly damaging	Het
Diexf	A	G	1: 193,120,666 (GRCm38)	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907 (GRCm38)	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573 (GRCm38)		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773 (GRCm38)		probably benign	Het
Fam131a	A	C	16: 20,694,940 (GRCm38)		probably benign	Het
Gm6614	A	T	6: 142,008,714 (GRCm38)	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324 (GRCm38)		probably benign	Het
Gna13	T	C	11: 109,392,392 (GRCm38)	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688 (GRCm38)	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507 (GRCm38)	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865 (GRCm38)	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239 (GRCm38)	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830 (GRCm38)	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357 (GRCm38)		probably benign	Het
Lats1	A	G	10: 7,710,608 (GRCm38)	T912A	probably damaging	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295 (GRCm38)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269 (GRCm38)		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676 (GRCm38)		probably null	Het
Med12l	T	C	3: 59,073,290 (GRCm38)	F359S	probably benign	Het
Mut	A	G	17: 40,951,758 (GRCm38)	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109 (GRCm38)		probably benign	Het
Ngp	A	G	9: 110,421,756 (GRCm38)	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888 (GRCm38)	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309 (GRCm38)	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045 (GRCm38)	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342 (GRCm38)	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756 (GRCm38)	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106 (GRCm38)		probably benign	Het
Sema3g	C	T	14: 31,227,841 (GRCm38)	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997 (GRCm38)		probably benign	Het
Stpg2	A	T	3: 139,212,250 (GRCm38)		probably null	Het
Taar7f	C	T	10: 24,050,423 (GRCm38)	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346 (GRCm38)	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203 (GRCm38)	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890 (GRCm38)	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234 (GRCm38)	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203 (GRCm38)	V115A		Het
Ttbk2	A	G	2: 120,748,634 (GRCm38)	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316 (GRCm38)		probably benign	Het
Vps16	A	G	2: 130,438,209 (GRCm38)	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587 (GRCm38)	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236 (GRCm38)	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652 (GRCm38)	N63K	possibly damaging	Het

Other mutations in Defb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Defb22	APN	2	152,486,079 (GRCm38)	missense	possibly damaging	0.93
IGL02040:Defb22	APN	2	152,490,056 (GRCm38)	missense	possibly damaging	0.83
IGL03159:Defb22	APN	2	152,490,075 (GRCm38)	missense	probably benign	0.00
R5153:Defb22	UTSW	2	152,485,802 (GRCm38)	missense	unknown
R5387:Defb22	UTSW	2	152,485,906 (GRCm38)	missense	unknown
R6141:Defb22	UTSW	2	152,485,802 (GRCm38)	missense	unknown
R7153:Defb22	UTSW	2	152,485,920 (GRCm38)	missense	unknown
R7385:Defb22	UTSW	2	152,486,197 (GRCm38)	missense	probably damaging	0.99
R7650:Defb22	UTSW	2	152,486,103 (GRCm38)	missense	probably benign	0.40
R7671:Defb22	UTSW	2	152,486,030 (GRCm38)	missense	unknown
R8242:Defb22	UTSW	2	152,486,087 (GRCm38)	missense	probably damaging	0.99
R8271:Defb22	UTSW	2	152,485,792 (GRCm38)	missense	unknown
R9224:Defb22	UTSW	2	152,485,801 (GRCm38)	missense	unknown
R9706:Defb22	UTSW	2	152,485,900 (GRCm38)	missense	unknown
RF013:Defb22	UTSW	2	152,485,831 (GRCm38)	small insertion	probably benign
RF025:Defb22	UTSW	2	152,485,824 (GRCm38)	small insertion	probably benign
RF025:Defb22	UTSW	2	152,485,823 (GRCm38)	small insertion	probably benign
RF029:Defb22	UTSW	2	152,485,833 (GRCm38)	small insertion	probably benign
RF034:Defb22	UTSW	2	152,485,832 (GRCm38)	small insertion	probably benign
RF041:Defb22	UTSW	2	152,485,823 (GRCm38)	small insertion	probably benign
RF043:Defb22	UTSW	2	152,485,833 (GRCm38)	small insertion	probably benign
RF062:Defb22	UTSW	2	152,485,825 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AACACTGACTTAGGCCTCTTGG -3'
(R):5'- TCAAAATTAGTGGTCACTGTGGGG -3'

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

Posted On

2019-12-04