Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU18:Defb21'

262525

Institutional Source

Beutler Lab

Gene Symbol

Defb21

Ensembl Gene

ENSMUSG00000056544

Gene Name

defensin beta 21

Synonyms

4930525K10Rik, LOC228782

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

ANU18

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152414664-152416864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152416671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 49 (E49G)

Ref Sequence

ENSEMBL: ENSMUSP00000065102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053180] [ENSMUST00000070722]

AlphaFold

Q8C5Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000053180

SMART Domains

Protein: ENSMUSP00000059585
Gene: ENSMUSG00000050645

Domain	Start	End	E-Value	Type
Pfam:Defensin_big	2	60	3.4e-9	PFAM
Pfam:Defensin_beta_2	26	55	5.1e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070722
AA Change: E49G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544
AA Change: E49G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Defensin_beta_2	33	62	1.4e-9	PFAM
low complexity region	76	86	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
D630003M21Rik	A	G	2: 158,059,568 (GRCm39)	S111P	probably benign	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Filip1	T	C	9: 79,726,462 (GRCm39)	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lct	T	A	1: 128,235,784 (GRCm39)	R408*	probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,886,899 (GRCm39)	S551P	probably benign	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Rab40b	C	G	11: 121,248,788 (GRCm39)	V156L	probably benign	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Trpm2	A	G	10: 77,759,818 (GRCm39)	L1106P	probably damaging	Het
Tshz1	A	G	18: 84,032,786 (GRCm39)	Y541H	probably damaging	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp365	A	G	10: 67,745,184 (GRCm39)	V198A	probably damaging	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	probably damaging	Het

Other mutations in Defb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Defb21	APN	2	152,416,712 (GRCm39)	missense	probably benign	0.33
IGL00795:Defb21	APN	2	152,416,665 (GRCm39)	missense	probably benign	0.00
IGL01301:Defb21	APN	2	152,416,671 (GRCm39)	missense	possibly damaging	0.85
IGL01686:Defb21	APN	2	152,416,821 (GRCm39)	unclassified	probably benign
R2305:Defb21	UTSW	2	152,416,791 (GRCm39)	missense	possibly damaging	0.96
R2438:Defb21	UTSW	2	152,416,695 (GRCm39)	missense	possibly damaging	0.71
R6805:Defb21	UTSW	2	152,416,789 (GRCm39)	missense	probably benign	0.01
R8924:Defb21	UTSW	2	152,416,704 (GRCm39)	missense	possibly damaging	0.51
X0063:Defb21	UTSW	2	152,415,752 (GRCm39)	unclassified	probably benign
Z1176:Defb21	UTSW	2	152,415,753 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGGAGCAGCTATTTGGAGATGCG -3'
(R):5'- CAGGAGCTGTCAGAAACTTCAGGG -3'

Sequencing Primer
(F):5'- TGGAGATGCGTGGTATTATCAAAC -3'
(R):5'- CTGTCAGAAACTTCAGGGACAGG -3'

Posted On

2015-02-04