Mutagenetix > Incidental Mutation

Incidental Mutation 'R5720:Defb26'

451399

Institutional Source

Beutler Lab

Gene Symbol

Defb26

Ensembl Gene

ENSMUSG00000074680

Gene Name

defensin beta 26

Synonyms

EG654457

MMRRC Submission

043188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152349718-152353612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152350122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 53 (N53D)

Ref Sequence

ENSEMBL: ENSMUSP00000096811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099205]

AlphaFold

Q30KN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099205
AA Change: N53D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096811
Gene: ENSMUSG00000074680
AA Change: N53D

Domain	Start	End	E-Value	Type
Pfam:Defensin_beta_2	28	58	2.7e-10	PFAM
internal_repeat_1	101	133	1.35e-13	PROSPERO
internal_repeat_1	129	161	1.35e-13	PROSPERO
low complexity region	162	168	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,228,802 (GRCm39)	T1125A	possibly damaging	Het
Cplane1	T	A	15: 8,233,171 (GRCm39)	N1165K	probably benign	Het
Ctf1	A	T	7: 127,316,174 (GRCm39)		probably null	Het
Dhtkd1	T	C	2: 5,907,825 (GRCm39)	T787A	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxl7	A	G	15: 26,552,979 (GRCm39)	L96P	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr65	A	T	12: 98,241,361 (GRCm39)	S5C	probably damaging	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Itga8	G	A	2: 12,115,898 (GRCm39)	S76L	probably damaging	Het
Mpdz	A	T	4: 81,205,931 (GRCm39)	F1810Y	probably damaging	Het
Nfrkb	T	C	9: 31,306,038 (GRCm39)	L126P	probably damaging	Het
Or4a77	T	C	2: 89,487,299 (GRCm39)	Y162C	probably benign	Het
Primpol	A	G	8: 47,034,677 (GRCm39)	V417A	probably damaging	Het
Pus1	C	T	5: 110,925,584 (GRCm39)	E79K	probably damaging	Het
Rspo2	C	T	15: 43,033,210 (GRCm39)	C4Y	probably benign	Het
Serpina12	T	C	12: 104,004,563 (GRCm39)	D23G	probably benign	Het
Serpind1	A	T	16: 17,157,696 (GRCm39)	R297S	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc17a6	C	T	7: 51,275,145 (GRCm39)	P68L	probably damaging	Het
Slc6a5	C	T	7: 49,606,264 (GRCm39)	P724L	possibly damaging	Het
Spaca7	A	G	8: 12,649,004 (GRCm39)	E166G	possibly damaging	Het
Supt5	A	G	7: 28,021,993 (GRCm39)	S345P	probably damaging	Het
Syne2	G	A	12: 76,014,441 (GRCm39)	D3211N	probably benign	Het
Tmem132e	G	A	11: 82,333,276 (GRCm39)		probably null	Het
Trappc14	A	G	5: 138,261,964 (GRCm39)	V44A	probably benign	Het
Zfp384	T	C	6: 125,013,587 (GRCm39)	S536P	probably benign	Het

Other mutations in Defb26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02342:Defb26	APN	2	152,350,121 (GRCm39)	missense	possibly damaging	0.71
IGL03370:Defb26	APN	2	152,349,902 (GRCm39)	missense	probably benign	0.12
R0078:Defb26	UTSW	2	152,349,988 (GRCm39)	missense	possibly damaging	0.70
R0306:Defb26	UTSW	2	152,349,888 (GRCm39)	missense	unknown
R1351:Defb26	UTSW	2	152,349,737 (GRCm39)	missense	unknown
R1935:Defb26	UTSW	2	152,350,195 (GRCm39)	missense	possibly damaging	0.85
R1936:Defb26	UTSW	2	152,350,195 (GRCm39)	missense	possibly damaging	0.85
R4604:Defb26	UTSW	2	152,350,104 (GRCm39)	missense	possibly damaging	0.53
R4888:Defb26	UTSW	2	152,350,085 (GRCm39)	missense	possibly damaging	0.72
R5121:Defb26	UTSW	2	152,350,085 (GRCm39)	missense	possibly damaging	0.72
R5262:Defb26	UTSW	2	152,349,878 (GRCm39)	missense	unknown
R6257:Defb26	UTSW	2	152,349,860 (GRCm39)	missense	unknown
R7902:Defb26	UTSW	2	152,350,156 (GRCm39)	nonsense	probably null
Z1176:Defb26	UTSW	2	152,350,221 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGGGTGTCTTGCCAATAC -3'
(R):5'- TTAGTCTAGAGGGCAGAGGTTC -3'

Sequencing Primer
(F):5'- TGCCAATACCTGCAGGATTG -3'
(R):5'- CAGAGGTTCGGTTTTGATTGAATG -3'

Posted On

2017-01-03