Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00834:Defb10'

10106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb10

Ensembl Gene

ENSMUSG00000044743

Gene Name

defensin beta 10

Synonyms

Defb7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL00834

Quality Score

Status

Chromosome

Chromosomal Location

22348917-22352027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22351952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 66 (C66S)

Ref Sequence

ENSEMBL: ENSMUSP00000061533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054162]

AlphaFold

Q8R2I8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054162
AA Change: C66S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061533
Gene: ENSMUSG00000044743
AA Change: C66S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Defensin_beta	33	68	3.4e-13	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	G	13: 4,562,664 (GRCm39)		probably null	Het
Alg5	T	C	3: 54,652,140 (GRCm39)		probably benign	Het
App	A	T	16: 84,762,599 (GRCm39)	F675I	probably damaging	Het
Atad1	C	A	19: 32,675,968 (GRCm39)	C152F	probably benign	Het
Atp2a3	A	C	11: 72,873,613 (GRCm39)	I829L	probably damaging	Het
B3galt1	C	T	2: 67,949,050 (GRCm39)	S255L	probably damaging	Het
Bptf	A	G	11: 106,964,754 (GRCm39)	V1417A	possibly damaging	Het
Cast	T	A	13: 74,885,093 (GRCm39)	T219S	probably damaging	Het
Cep95	A	T	11: 106,709,043 (GRCm39)	I705F	probably damaging	Het
Cnot3	C	T	7: 3,653,854 (GRCm39)	A2V	probably damaging	Het
Col1a1	A	G	11: 94,840,204 (GRCm39)	D1084G	unknown	Het
Col5a3	G	A	9: 20,697,685 (GRCm39)	Q873*	probably null	Het
Cubn	C	T	2: 13,386,738 (GRCm39)	G1509D	probably damaging	Het
Dennd4b	T	C	3: 90,186,993 (GRCm39)		probably null	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Hmcn1	C	T	1: 150,506,091 (GRCm39)	V3812I	probably benign	Het
Islr2	T	C	9: 58,107,069 (GRCm39)	T64A	probably benign	Het
Kif2b	A	T	11: 91,467,206 (GRCm39)	I359N	probably damaging	Het
Kit	A	C	5: 75,806,619 (GRCm39)	N704T	probably damaging	Het
Ksr1	A	G	11: 78,918,343 (GRCm39)	F604L	probably damaging	Het
Lrp5	A	T	19: 3,699,404 (GRCm39)	F294I	probably benign	Het
Lrrn1	A	G	6: 107,545,269 (GRCm39)	T356A	probably benign	Het
Mrps17	G	A	5: 129,793,829 (GRCm39)	V8I	probably benign	Het
Nop56	T	A	2: 130,117,915 (GRCm39)	H130Q	possibly damaging	Het
Plg	T	A	17: 12,630,380 (GRCm39)	L639Q	probably damaging	Het
Ppcdc	A	G	9: 57,322,423 (GRCm39)	F159L	probably benign	Het
Ppp1ca	A	G	19: 4,244,519 (GRCm39)	T193A	probably benign	Het
Prpf39	A	G	12: 65,090,037 (GRCm39)	D117G	probably damaging	Het
Ranbp2	C	A	10: 58,289,145 (GRCm39)	T51K	possibly damaging	Het
Sytl2	A	G	7: 90,031,844 (GRCm39)		probably benign	Het
Tenm2	T	A	11: 35,915,085 (GRCm39)	I2150F	probably damaging	Het
Wdr11	T	G	7: 129,194,817 (GRCm39)		probably null	Het

Other mutations in Defb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1442:Defb10	UTSW	8	22,348,944 (GRCm39)	start codon destroyed	probably benign	0.08
R1502:Defb10	UTSW	8	22,348,972 (GRCm39)	missense	possibly damaging	0.86
R5048:Defb10	UTSW	8	22,351,887 (GRCm39)	missense	probably damaging	0.98
R5227:Defb10	UTSW	8	22,351,894 (GRCm39)	nonsense	probably null
R6879:Defb10	UTSW	8	22,351,898 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-06