Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Defb30'

535831

Institutional Source

Beutler Lab

Gene Symbol

Defb30

Ensembl Gene

ENSMUSG00000075571

Gene Name

defensin beta 30

Synonyms

4930449O14Rik, 2410125J01Rik

MMRRC Submission

044964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63271536-63275313 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 63273552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100490] [ENSMUST00000111207] [ENSMUST00000111208] [ENSMUST00000111209]

AlphaFold

Q30KN4

Predicted Effect

probably null
Transcript: ENSMUST00000100490

SMART Domains

Protein: ENSMUSP00000098059
Gene: ENSMUSG00000075571

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta_2	34	63	1.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111207

SMART Domains

Protein: ENSMUSP00000106838
Gene: ENSMUSG00000075571

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta_2	34	63	1.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111208

SMART Domains

Protein: ENSMUSP00000106839
Gene: ENSMUSG00000075571

Domain	Start	End	E-Value	Type
Pfam:Defensin_beta_2	35	64	1.8e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111209

SMART Domains

Protein: ENSMUSP00000106840
Gene: ENSMUSG00000075571

Domain	Start	End	E-Value	Type
Pfam:Defensin_beta_2	35	64	1.8e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Anln	A	T	9: 22,293,545 (GRCm39)	S33T	probably benign	Het
Anxa6	T	C	11: 54,877,011 (GRCm39)	T541A	probably benign	Het
Atxn2	C	T	5: 121,917,557 (GRCm39)	R334W	probably damaging	Het
AU040320	T	A	4: 126,741,612 (GRCm39)	V940D	probably damaging	Het
Bcl2	A	T	1: 106,471,011 (GRCm39)	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,781,855 (GRCm39)	V3A	probably benign	Het
Calr	A	T	8: 85,571,557 (GRCm39)	H145Q	probably damaging	Het
Camta2	T	A	11: 70,562,792 (GRCm39)	T976S	probably benign	Het
Ccnk	G	A	12: 108,168,473 (GRCm39)		probably benign	Het
Cntln	T	C	4: 85,015,029 (GRCm39)	S1107P	probably damaging	Het
Cradd	T	C	10: 95,011,789 (GRCm39)	D117G	probably damaging	Het
Dcaf7	C	T	11: 105,937,647 (GRCm39)	T90I	probably damaging	Het
Dock4	T	A	12: 40,795,745 (GRCm39)	I854N	probably damaging	Het
Dym	T	A	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Eef1a2	T	C	2: 180,791,477 (GRCm39)	T341A	probably benign	Het
Eml2	T	C	7: 18,930,206 (GRCm39)	V309A	probably damaging	Het
Flnb	C	T	14: 7,905,640 (GRCm38)	P1130L	possibly damaging	Het
Hivep3	C	A	4: 119,952,085 (GRCm39)	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,757,011 (GRCm39)	K242*	probably null	Het
Kel	A	G	6: 41,680,694 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,904,546 (GRCm39)	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,354,795 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,343,313 (GRCm39)	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,230,542 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mylk	C	A	16: 34,694,520 (GRCm39)	P193Q	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or2y16	G	T	11: 49,334,767 (GRCm39)	A30S	probably benign	Het
Or2y17	A	T	11: 49,231,580 (GRCm39)	T74S	probably damaging	Het
Or4d10b	A	T	19: 12,036,777 (GRCm39)	F113Y	probably damaging	Het
Or4f52	C	T	2: 111,061,542 (GRCm39)	V199I	probably benign	Het
Otogl	C	T	10: 107,663,667 (GRCm39)	S968N	probably damaging	Het
Oxr1	T	G	15: 41,686,783 (GRCm39)	V555G	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Peg3	T	C	7: 6,715,761 (GRCm39)	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Prkacb	T	C	3: 146,451,133 (GRCm39)	Y204C	probably damaging	Het
Prkch	A	G	12: 73,806,391 (GRCm39)	E546G	probably damaging	Het
Prss12	C	A	3: 123,241,033 (GRCm39)	H76N	probably benign	Het
Rai14	G	T	15: 10,633,254 (GRCm39)	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750 (GRCm39)	D837V	probably benign	Het
Slc22a6	G	T	19: 8,595,805 (GRCm39)	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,775,874 (GRCm39)	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,556,310 (GRCm39)	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,606,149 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,115 (GRCm39)	F525I	probably damaging	Het
Tktl2	T	C	8: 66,964,991 (GRCm39)	I183T	probably damaging	Het
Tmem175	A	C	5: 108,793,845 (GRCm39)	H325P	probably damaging	Het
Tns3	A	G	11: 8,443,196 (GRCm39)	V389A	probably damaging	Het
Trappc9	A	T	15: 72,809,011 (GRCm39)		probably null	Het
Trim28	T	A	7: 12,763,385 (GRCm39)	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,713 (GRCm39)	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,756,117 (GRCm39)	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,267,940 (GRCm39)	L492P	probably damaging	Het
Zfp831	C	A	2: 174,488,533 (GRCm39)	N1069K	possibly damaging	Het
Zfp943	T	A	17: 22,211,593 (GRCm39)	H226Q	probably damaging	Het

Other mutations in Defb30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0620:Defb30	UTSW	14	63,287,212 (GRCm39)	unclassified	probably benign
R1242:Defb30	UTSW	14	63,273,455 (GRCm39)	missense	probably damaging	0.97
R3980:Defb30	UTSW	14	63,273,421 (GRCm39)	missense	probably damaging	1.00
R4537:Defb30	UTSW	14	63,273,525 (GRCm39)	missense	probably damaging	1.00
R5046:Defb30	UTSW	14	63,273,463 (GRCm39)	missense	probably benign	0.00
R5396:Defb30	UTSW	14	63,273,559 (GRCm39)	splice site	probably null
R6388:Defb30	UTSW	14	63,287,213 (GRCm39)	unclassified	probably benign
R8059:Defb30	UTSW	14	63,273,383 (GRCm39)	makesense	probably null
R8236:Defb30	UTSW	14	63,287,216 (GRCm39)	missense	unknown
R9383:Defb30	UTSW	14	63,273,463 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTTCACGAAGAGAACGGGC -3'
(R):5'- TGCAGATAAATGATCAGTGGCTC -3'

Sequencing Primer
(F):5'- CTTCACGAAGAGAACGGGCATTTC -3'
(R):5'- GCTAATGGCTCCTAATAAGTCCATGG -3'

Posted On

2018-10-18