Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Defb22'

590732

Institutional Source

Beutler Lab

Gene Symbol

Defb22

Ensembl Gene

ENSMUSG00000027468

Gene Name

defensin beta 22

Synonyms

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152485663-152490138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152486103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 54 (I54K)

Ref Sequence

ENSEMBL: ENSMUSP00000028966 (fasta)

Gene Model

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

AlphaFold

Q8BVC1

Predicted Effect

probably benign
Transcript: ENSMUST00000028966
AA Change: I54K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468
AA Change: I54K

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,699,789 (GRCm38)	V3I	probably benign	Het
Adam33	T	C	2: 131,061,147 (GRCm38)	E59G	probably damaging	Het
Akap13	T	A	7: 75,643,454 (GRCm38)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,045,533 (GRCm38)	S28P	probably benign	Het
Btnl2	T	C	17: 34,358,129 (GRCm38)	L86P	probably damaging	Het
Carm1	G	A	9: 21,580,372 (GRCm38)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,354,116 (GRCm38)	D283N	probably benign	Het
Cfap58	C	A	19: 47,986,528 (GRCm38)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,314,453 (GRCm38)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,838,344 (GRCm38)	D220G	probably benign	Het
Ddias	C	T	7: 92,858,935 (GRCm38)	G591R	probably benign	Het
Dennd4b	G	A	3: 90,268,749 (GRCm38)	W202*	probably null	Het
F2	T	C	2: 91,628,396 (GRCm38)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,939,907 (GRCm38)	Y2819H	unknown	Het
Fanca	A	T	8: 123,268,564 (GRCm38)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,413,418 (GRCm38)	N1418S	probably damaging	Het
Gak	A	G	5: 108,584,295 (GRCm38)	S776P	probably benign	Het
Gbf1	A	G	19: 46,272,539 (GRCm38)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,437,098 (GRCm38)	E294K	probably benign	Het
Gje1	G	A	10: 14,716,424 (GRCm38)	R205*	probably null	Het
Gm12569	G	A	11: 51,234,786 (GRCm38)	E179K	possibly damaging	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,861,843 (GRCm38)		probably benign	Het
Gxylt1	C	T	15: 93,245,658 (GRCm38)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,383,899 (GRCm38)	M396L	probably benign	Het
Ice1	T	A	13: 70,605,483 (GRCm38)	Q828L	probably damaging	Het
Ice1	A	G	13: 70,589,797 (GRCm38)	V2177A	possibly damaging	Het
Il10	A	T	1: 131,021,455 (GRCm38)	T118S	probably benign	Het
Itpr2	C	T	6: 146,233,994 (GRCm38)	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,618,548 (GRCm38)	Q100L	probably damaging	Het
Kin	A	G	2: 10,092,168 (GRCm38)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,346,943 (GRCm38)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,850,870 (GRCm38)	A2858T	unknown	Het
Krt8	G	A	15: 102,004,163 (GRCm38)	T26M	probably benign	Het
Lama3	T	A	18: 12,537,838 (GRCm38)	M827K	probably benign	Het
Lingo3	T	C	10: 80,835,763 (GRCm38)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999 (GRCm38)		probably benign	Het
Metap1	A	G	3: 138,466,367 (GRCm38)	V263A	probably damaging	Het
Muc5ac	A	G	7: 141,809,422 (GRCm38)	T2157A	unknown	Het
Myo1d	G	T	11: 80,601,684 (GRCm38)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,817,839 (GRCm38)	N419K	probably benign	Het
Nol10	T	C	12: 17,362,682 (GRCm38)		probably null	Het
Nrcam	T	C	12: 44,547,322 (GRCm38)	L284P	probably damaging	Het
Nrp1	T	A	8: 128,498,014 (GRCm38)	W753R	possibly damaging	Het
Obscn	A	G	11: 59,060,994 (GRCm38)	S3978P	probably benign	Het
Olfr181	T	A	16: 58,926,053 (GRCm38)	R173*	probably null	Het
Olfr968	A	T	9: 39,771,873 (GRCm38)	F309Y	probably benign	Het
Opa3	C	A	7: 19,244,971 (GRCm38)	N120K	probably benign	Het
Pabpc1l	T	C	2: 164,049,590 (GRCm38)	L576S	probably benign	Het
Panx3	A	G	9: 37,661,405 (GRCm38)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,309,614 (GRCm38)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,699,107 (GRCm38)		probably null	Het
Pkd1l3	T	C	8: 109,672,585 (GRCm38)	V2200A	probably benign	Het
Pkp3	G	A	7: 141,082,370 (GRCm38)	M112I	probably benign	Het
Prex2	T	C	1: 11,149,854 (GRCm38)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,726,759 (GRCm38)	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,906,951 (GRCm38)	V56A	possibly damaging	Het
Pus7	G	T	5: 23,760,246 (GRCm38)	T304K	probably damaging	Het
Rab38	T	C	7: 88,430,429 (GRCm38)	Y10H	possibly damaging	Het
Ros1	C	T	10: 52,046,209 (GRCm38)	G2277D	probably benign	Het
Rpain	A	T	11: 70,970,445 (GRCm38)		probably benign	Het
Shh	C	A	5: 28,458,306 (GRCm38)	S288I	probably benign	Het
Slc26a5	C	T	5: 21,834,330 (GRCm38)	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,629,924 (GRCm38)	N771I	probably damaging	Het
Stim1	T	A	7: 102,428,827 (GRCm38)	S179T		Het
Syk	A	G	13: 52,611,095 (GRCm38)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,787,010 (GRCm38)	S727A	probably benign	Het
Trim42	T	A	9: 97,363,148 (GRCm38)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,876,013 (GRCm38)	D1799V	possibly damaging	Het
Ttc26	T	A	6: 38,395,040 (GRCm38)	N188K	probably benign	Het
Ube4a	A	T	9: 44,933,436 (GRCm38)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,080,972 (GRCm38)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,390,924 (GRCm38)	Q290L	possibly damaging	Het
Vcl	T	A	14: 20,995,046 (GRCm38)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,871,939 (GRCm38)	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,793,650 (GRCm38)	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,883,753 (GRCm38)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,569,692 (GRCm38)	V100L	probably damaging	Het
Zfp942	A	T	17: 21,928,837 (GRCm38)	S270R	probably benign	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
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
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'- GGTATTGCCAGCCATTGTGG -3'
(R):5'- TGCCTTGGCATGGTTTCAGC -3'

Sequencing Primer
(F):5'- CATTGTGGCAGCGCTGG -3'
(R):5'- GCTATCTGCTCAGTACCTGGG -3'

Posted On

2019-10-24