Mutagenetix > Incidental Mutation

Incidental Mutation 'R4020:Defa25'

312734

Institutional Source

Beutler Lab

Gene Symbol

Defa25

Ensembl Gene

ENSMUSG00000094687

Gene Name

defensin, alpha, 25

Synonyms

Defcr25

MMRRC Submission

040954-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21574458-21575301 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21575245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 75 (R75C)

Ref Sequence

ENSEMBL: ENSMUSP00000093075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095425]

AlphaFold

Q5G864

Predicted Effect

probably benign
Transcript: ENSMUST00000095425
AA Change: R75C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000093075
Gene: ENSMUSG00000094687
AA Change: R75C

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	8.4e-24	PFAM
DEFSN	63	92	1.42e-6	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	C	8: 89,035,362 (GRCm39)	V89L	probably benign	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,369,388 (GRCm39)	T206I	probably benign	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Apob	C	T	12: 8,044,914 (GRCm39)	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,066,724 (GRCm39)		probably benign	Het
C1ra	A	T	6: 124,496,736 (GRCm39)	T391S	probably benign	Het
Catsperg2	C	A	7: 29,416,429 (GRCm39)	D328Y	probably damaging	Het
Ciapin1	G	T	8: 95,555,814 (GRCm39)	L119M	probably damaging	Het
Crhr2	A	G	6: 55,077,765 (GRCm39)		probably benign	Het
Cyp2j6	A	G	4: 96,406,407 (GRCm39)	S455P	probably benign	Het
Dctn4	G	A	18: 60,671,329 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,296 (GRCm39)	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,482,292 (GRCm39)	F185L	probably damaging	Het
Dock9	T	C	14: 121,844,267 (GRCm39)	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,422 (GRCm39)	L302R	possibly damaging	Het
Efcab5	C	T	11: 76,994,930 (GRCm39)	V1214I	probably benign	Het
Erich3	G	A	3: 154,419,686 (GRCm39)	R260H	probably damaging	Het
Fam168b	T	C	1: 34,867,860 (GRCm39)	T47A	possibly damaging	Het
Gorasp1	G	A	9: 119,757,936 (GRCm39)	R290C	probably benign	Het
Gtf2a1	A	G	12: 91,539,351 (GRCm39)	S94P	possibly damaging	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,693 (GRCm39)	I446V	probably benign	Het
Krtap5-1	T	C	7: 141,850,094 (GRCm39)		probably null	Het
Lipo3	T	A	19: 33,764,804 (GRCm39)	I17L	probably benign	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lss	T	C	10: 76,383,278 (GRCm39)	M526T	probably damaging	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,767,454 (GRCm39)	T221A	probably benign	Het
Muc21	T	C	17: 35,930,953 (GRCm39)		probably benign	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nfrkb	T	A	9: 31,325,407 (GRCm39)	L950Q	possibly damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or5b105	T	G	19: 13,079,790 (GRCm39)	K287Q	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pitrm1	A	G	13: 6,606,723 (GRCm39)	H259R	probably damaging	Het
Pllp	C	A	8: 95,406,072 (GRCm39)	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,926 (GRCm39)	T334A	probably benign	Het
Prep	T	C	10: 44,968,894 (GRCm39)		probably benign	Het
Ptprz1	C	A	6: 22,959,623 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,455,390 (GRCm39)	S170G	probably damaging	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,954,638 (GRCm39)	K56R	probably benign	Het
Ubr4	T	G	4: 139,179,116 (GRCm39)	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,151,182 (GRCm39)	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,405,816 (GRCm39)	N262K	probably benign	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably damaging	Het

Other mutations in Defa25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Defa25	APN	8	21,575,281 (GRCm39)	missense	possibly damaging	0.87
R2960:Defa25	UTSW	8	21,575,273 (GRCm39)	missense	probably benign	0.00
R3945:Defa25	UTSW	8	21,574,506 (GRCm39)	missense	probably null	0.36
R3946:Defa25	UTSW	8	21,574,506 (GRCm39)	missense	probably null	0.36
R6208:Defa25	UTSW	8	21,575,197 (GRCm39)	critical splice acceptor site	probably null
R6647:Defa25	UTSW	8	21,575,201 (GRCm39)	missense	possibly damaging	0.63
R7248:Defa25	UTSW	8	21,575,216 (GRCm39)	missense	probably damaging	0.98
R7681:Defa25	UTSW	8	21,574,535 (GRCm39)	missense	probably benign	0.39
R8031:Defa25	UTSW	8	21,575,253 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CACCCCTGAAGTGTGTTGTTG -3'
(R):5'- CTGTCAGCTAAGGTGTCCAAG -3'

Sequencing Primer
(F):5'- TGAGATGTCCTTGCTGAAGTC -3'
(R):5'- GTCAGCTAAGGTGTCCAAGTATTAAG -3'

Posted On

2015-04-30