Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Defb22'

603313

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 #

RF013 (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)

TTGCGGCA to TTGCGGCAGAGCTGGCCTGTGCGGCA at 152485831 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: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096 (GRCm38)		probably benign	Het
Adamts9	A	G	6: 92,943,145 (GRCm38)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232 (GRCm38)		probably benign	Het
Alk	A	G	17: 71,895,936 (GRCm38)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926 (GRCm38)		probably benign	Het
Ano3	A	C	2: 110,697,036 (GRCm38)	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830 (GRCm38)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757 (GRCm38)		probably benign	Het
Card6	T	C	15: 5,100,142 (GRCm38)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,450,071 (GRCm38)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,220,716 (GRCm38)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744 (GRCm38)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597 (GRCm38)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432 (GRCm38)		probably benign	Het
Cyp8b1	A	T	9: 121,915,495 (GRCm38)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985 (GRCm38)	H408Q	possibly damaging	Het
Ercc6l2	A	T	13: 63,853,017 (GRCm38)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932 (GRCm38)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895 (GRCm38)		probably benign	Het
Flvcr2	T	A	12: 85,747,186 (GRCm38)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175 (GRCm38)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416 (GRCm38)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520 (GRCm38)		probably null	Het
Gm4884	C	A	7: 41,040,809 (GRCm38)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,780 (GRCm38)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm38)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343 (GRCm38)		probably benign	Het
Kif18b	T	C	11: 102,912,366 (GRCm38)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135 (GRCm38)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274 (GRCm38)		probably benign	Het
Lama1	C	A	17: 67,781,062 (GRCm38)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836 (GRCm38)		probably null	Het
Lmna	A	G	3: 88,484,054 (GRCm38)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260 (GRCm38)		probably null	Het
Mboat7	T	A	7: 3,691,857 (GRCm38)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966 (GRCm38)		probably benign	Het
Morc2a	T	A	11: 3,676,191 (GRCm38)	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592 (GRCm38)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641 (GRCm38)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898 (GRCm38)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,799,479 (GRCm38)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408 (GRCm38)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680 (GRCm38)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032 (GRCm38)		probably benign	Het
Numa1	T	C	7: 101,999,780 (GRCm38)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,071,012 (GRCm38)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,212,894 (GRCm38)	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666 (GRCm38)	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813 (GRCm38)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170 (GRCm38)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941 (GRCm38)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180 (GRCm38)		probably benign	Het
Rsrp1	T	A	4: 134,923,955 (GRCm38)	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388 (GRCm38)		probably null	Het
Six4	TG	T	12: 73,103,582 (GRCm38)		probably null	Het
Slc6a15	T	A	10: 103,400,216 (GRCm38)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211 (GRCm38)		probably benign	Het
Sost	A	T	11: 101,964,132 (GRCm38)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,789,294 (GRCm38)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774 (GRCm38)		probably null	Het
Tcaf1	C	T	6: 42,679,173 (GRCm38)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743 (GRCm38)		probably benign	Het
Tex55	T	C	16: 38,828,001 (GRCm38)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm38)	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561 (GRCm38)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444 (GRCm38)	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753 (GRCm38)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464 (GRCm38)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338 (GRCm38)	V220A	probably benign	Het
Zan	T	A	5: 137,391,720 (GRCm38)	Q4830L	unknown	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
RF021:Defb22	UTSW	2	152,485,832 (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'- AATCAACACTGACTTAGGCCTC -3'
(R):5'- GCGGTGGACAGAATTCAGATAATC -3'

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

Posted On

2019-12-04