Mutagenetix > Incidental Mutation

Incidental Mutation 'R8059:Defb30'

619618

Institutional Source

Beutler Lab

Gene Symbol

Defb30

Ensembl Gene

ENSMUSG00000075571

Gene Name

defensin beta 30

Synonyms

4930449O14Rik, 2410125J01Rik

MMRRC Submission

067894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63271536-63275313 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 63273383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 77 (*77Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106839 (fasta)

Gene Model

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

AlphaFold

Q30KN4

Predicted Effect

probably null
Transcript: ENSMUST00000100490
AA Change: *76Q

SMART Domains

Protein: ENSMUSP00000098059
Gene: ENSMUSG00000075571
AA Change: *76Q

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
AA Change: *76Q

SMART Domains

Protein: ENSMUSP00000106838
Gene: ENSMUSG00000075571
AA Change: *76Q

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
AA Change: *77Q

SMART Domains

Protein: ENSMUSP00000106839
Gene: ENSMUSG00000075571
AA Change: *77Q

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

Predicted Effect

probably null
Transcript: ENSMUST00000111209
AA Change: *77Q

SMART Domains

Protein: ENSMUSP00000106840
Gene: ENSMUSG00000075571
AA Change: *77Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,279 (GRCm39)	M3372K	probably benign	Het
Abcg3	A	T	5: 105,100,948 (GRCm39)		probably null	Het
Adam19	G	A	11: 46,027,293 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,344,794 (GRCm39)	T53K	probably damaging	Het
Ccdc141	A	C	2: 76,875,095 (GRCm39)	L705R	probably damaging	Het
Cep78	A	T	19: 15,958,876 (GRCm39)	V156E	probably benign	Het
Cers2	A	G	3: 95,229,982 (GRCm39)	D342G	probably damaging	Het
Chl1	T	A	6: 103,651,948 (GRCm39)	I272N	probably damaging	Het
Dnai3	C	G	3: 145,752,428 (GRCm39)	R749S	possibly damaging	Het
Dnm3	A	G	1: 161,911,708 (GRCm39)	V63A	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Entpd2	G	T	2: 25,288,096 (GRCm39)	V107L	probably damaging	Het
Hectd1	T	A	12: 51,837,161 (GRCm39)	H799L	possibly damaging	Het
Hira	T	C	16: 18,730,901 (GRCm39)	V200A	probably damaging	Het
Hspd1	T	C	1: 55,120,883 (GRCm39)	K269E	possibly damaging	Het
Kcnj4	T	C	15: 79,369,003 (GRCm39)	S326G	probably benign	Het
Kctd19	T	G	8: 106,122,983 (GRCm39)	I144L	probably benign	Het
Lama4	T	C	10: 38,842,057 (GRCm39)	I36T	probably benign	Het
Lrrn3	T	C	12: 41,504,216 (GRCm39)	T34A	probably benign	Het
Maco1	A	T	4: 134,555,359 (GRCm39)	C371*	probably null	Het
Maml3	A	G	3: 51,764,110 (GRCm39)	S285P	probably damaging	Het
Man2b2	A	G	5: 36,973,504 (GRCm39)	Y492H	probably damaging	Het
Mapk10	G	T	5: 103,114,478 (GRCm39)	N303K	probably damaging	Het
Matn2	C	T	15: 34,345,481 (GRCm39)	R163C	probably damaging	Het
Mtmr7	C	T	8: 41,034,564 (GRCm39)	A253T	probably damaging	Het
Naca	C	T	10: 127,876,372 (GRCm39)	P468L	unknown	Het
Nckap1l	T	C	15: 103,401,714 (GRCm39)	S1084P	possibly damaging	Het
Nek11	T	C	9: 105,040,173 (GRCm39)	*629W	probably null	Het
Nfkb1	C	T	3: 135,299,613 (GRCm39)	A731T	possibly damaging	Het
Nop2	T	C	6: 125,117,775 (GRCm39)	V442A	probably damaging	Het
Oaz2	C	T	9: 65,596,425 (GRCm39)	P163L	probably damaging	Het
Or5p57	T	C	7: 107,665,223 (GRCm39)	T231A	probably benign	Het
Or6d14	C	T	6: 116,533,434 (GRCm39)	T16I	possibly damaging	Het
Or8k23	A	G	2: 86,186,306 (GRCm39)	V140A	probably benign	Het
Pabpc2	A	T	18: 39,907,875 (GRCm39)	N380I	probably benign	Het
Pax3	T	C	1: 78,080,003 (GRCm39)	D461G	probably benign	Het
Pds5b	G	T	5: 150,731,300 (GRCm39)	R1443L	unknown	Het
Per1	G	A	11: 68,997,309 (GRCm39)	R828H	probably damaging	Het
Phlpp2	T	A	8: 110,622,189 (GRCm39)	S144T	probably benign	Het
Plod1	A	T	4: 148,012,941 (GRCm39)	I207N	probably damaging	Het
Psmc6	A	T	14: 45,578,260 (GRCm39)	I208F	probably damaging	Het
Rev3l	T	C	10: 39,719,491 (GRCm39)	S2494P	probably damaging	Het
Rgs3	T	C	4: 62,521,214 (GRCm39)		probably benign	Het
Rtraf	T	C	14: 19,872,631 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,294,792 (GRCm39)	N166K	probably damaging	Het
Slc18a2	A	T	19: 59,272,572 (GRCm39)	T348S	probably benign	Het
Slc39a8	G	T	3: 135,532,347 (GRCm39)	A39S	probably benign	Het
Slc8a3	C	T	12: 81,249,032 (GRCm39)	G799S	probably damaging	Het
Sp1	T	G	15: 102,316,337 (GRCm39)	S46R	possibly damaging	Het
Spta1	A	G	1: 174,045,936 (GRCm39)		probably benign	Het
Stab1	G	A	14: 30,882,198 (GRCm39)	P499L	probably benign	Het
Trav21-dv12	C	A	14: 54,114,178 (GRCm39)	D99E	probably damaging	Het
Trpv6	T	G	6: 41,601,520 (GRCm39)	I467L	probably benign	Het
Ttc41	A	G	10: 86,548,842 (GRCm39)	Y12C	probably benign	Het
Vmn1r233	T	C	17: 21,214,698 (GRCm39)	N84S	probably benign	Het
Vrtn	T	C	12: 84,696,690 (GRCm39)	F480S	probably benign	Het
Zc3h13	C	G	14: 75,565,250 (GRCm39)	R788G	unknown	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
R6864:Defb30	UTSW	14	63,273,552 (GRCm39)	critical splice acceptor site	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'- CAAGGTTAAATGGGTTCTGGGAC -3'
(R):5'- CCCCTCTGTTTGCAGTTAGAAG -3'

Sequencing Primer
(F):5'- AGAAGCATCTTAGGAAATGTCCC -3'
(R):5'- CAGTTAGAAGTGGGGTGAATATGTAC -3'

Posted On

2020-01-23