Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Defb22'

604903

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 #

RF043 (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: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,162,573 (GRCm39)		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,693,970 (GRCm39)		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,814,752 (GRCm39)		probably benign	Het
Cpne1	TCCAC	TC	2: 155,915,430 (GRCm39)		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,464 (GRCm39)		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 86,922,484 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,465,750 (GRCm39)		probably benign	Het
Emid1	G	T	11: 5,094,322 (GRCm39)	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 71,313,654 (GRCm39)		probably benign	Het
Gar1	AACTGCC	A	3: 129,624,337 (GRCm39)		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,000,755 (GRCm39)		probably null	Het
Hic1	GGGA	G	11: 75,060,281 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,447,812 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,525,547 (GRCm39)		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,530,521 (GRCm39)		probably null	Het
Lrch1	TGGTGGTG	T	14: 75,185,015 (GRCm39)		probably null	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,281,069 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCTGC	X: 70,162,441 (GRCm39)		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 47,671,257 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,891,016 (GRCm39)		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,458,073 (GRCm39)		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,001,076 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,891,411 (GRCm39)		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,756,791 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,982 (GRCm39)		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,364,013 (GRCm39)		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,386,852 (GRCm39)		probably benign	Het
Sgpp1	ACACAC	A	12: 75,769,399 (GRCm39)		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,499,070 (GRCm39)		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846 (GRCm39)		probably benign	Het
Stard8	GGA	GGATGA	X: 98,110,126 (GRCm39)		probably benign	Het
Stard8	GA	GAGCA	X: 98,110,133 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,788,228 (GRCm39)		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,154 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	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
RF029:Defb22	UTSW	2	152,327,753 (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
RF062:Defb22	UTSW	2	152,327,745 (GRCm39)	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